Publications of the Group Functional Genetics
2023 Scientific Article in Kidney International Kidney Int. 105, 844-864 (2023)
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
2023 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 120:e2200057120 (2023)
Intranasal delivery of full-length anti-Nogo-A antibody: A potential alternative route for therapeutic antibodies to central nervous system targets.
2022 Scientific Article in Cell Death Discovery Cell Death Discov. 8:387 (2022)
Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.
2022 Scientific Article in Radiation Research Radiat. Res. 197, 7-21 (2022)
On the nature of murine radiation-induced subcapsular cataracts: Optical coherence tomography-based fine classification, in vivo dynamics and impact on visual acuity.
2021 Scientific Article in EMBO Molecular Medicine EMBO Mol. Med.:e14397 (2021)
Characterising a homozygous two-exon deletion in UQCRH: Comparing human and mouse phenotypes.
2021 Scientific Article in Nature Communications Nat. Commun. 12:4957 (2021)
Offspring born to influenza A virus infected pregnant mice have increased susceptibility to viral and bacterial infections in early life.
2021 Review in Mammalian Genome Mamm. Genome, DOI: 10.1007/s00335-021-09892-2 (2021)
INFRAFRONTIER quality principles in systemic phenotyping.
2021 Scientific Article in Molecular Metabolism Mol. Metab. 54:101334 (2021)
A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes.
2021 Scientific Article in Diabetes Aktuell Diabetes akt. 19, 62-65 (2021)
Einfluss von Genetik und Epigenetik auf die Entstehung von Diabetes.
2021 Scientific Article in Mammalian Genome Mamm. Genome 32, 332-349 (2021)
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
2021 Nature Communications Nat. Commun. 12:1804 (2021)
Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice (Nature Communications, (2020), 11, 1, (624), 10.1038/s41467-019-14069-2).
2021 Scientific Article in FASEB Journal FASEB J. 35:e21302 (2021)
Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.
2020 Editorial in Diabetologie, Die Diabetologie 16, 627-629 (2020)
Neues aus der Diabetesforschung.
2020 Scientific Article in Communications Biology Comm. Biol. 3:628 (2020)
PAX6 mutation alters circadian rhythm and beta cell function in mice without affecting glucose tolerance.
2020 Scientific Article in Diabetes Diabetes 69, 915-926 (2020)
DLL1- and DLL4-mediated Notch signaling is essential for adult pancreatic islet homeostasis.
2020 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 61:44 (2020)
Mutation in Bmpr1b leads to optic disc coloboma and ventral retinal gliosis in mice.
2019 Scientific Article in Journal of Clinical Endocrinology & Metabolism, The J. Clin. Endocrinol. Metab. 104, 6357-6370 (2019)
Plasma metabolomics to identify and stratify patients with impaired glucose tolerance.
2019 Scientific Article in Journal of Cellular and Molecular Medicine J. Cell. Mol. Med. 23, 5144-5153 (2019)
Metabolic signature associated with parameters of the complete blood count in apparently healthy individuals.
2019 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 116, 11872-11877 (2019)
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.
2019 Scientific Article in Journal of Dental Research - JDR Online J. Dent. Res. 98, 642-651 (2019)
The saliva metabolome in association to oral health status.
2019 Scientific Article in Frontiers in Endocrinology Front. Endocrin. 10:72 (2019)
Gene X gene interactions highlight the role of incretin resistance for insulin secretion.
2018 Scientific Article in Kidney International Kidney Int. 94, 49-59 (2018)
The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk.
2018 Scientific Article in Pigment Cell & Melanoma Research Pigment Cell Melanoma Res. 31, 693-707 (2018)
Melanocyte development in the mouse tail epidermis requires the Adamts9 metalloproteinase.
2018 Scientific Article in Scientific Reports Sci. Rep. 8:5975 (2018)
Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.
2017 Scientific Article in Scientific Reports Sci. Rep. 7:15486 (2017)
Excessive fuel availability amplifies the FTO-mediated obesity risk: Results from the TUEF and Whitehall II studies.
2017 Scientific Article in Journal of Biomedical Science J. Biomed. Sci. 24:57 (2017)
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1I27N mutant mice.
2017 Scientific Article in Molecular Metabolism Mol. Metab. 6, 1304-1312 (2017)
Point mutation of Ffar1 abrogates fatty acid-dependent insulin secretion, but protects against HFD-induced glucose intolerance.
2017 Scientific Article in Journal of Theoretical Biology J. Theor. Biol. 430, 32-44 (2017)
Modeling coexistence of oscillation and Delta/Notch-mediated lateral inhibition in pancreas development and neurogenesis.
2017 Scientific Article in PLoS ONE PLoS ONE 12:e177148 (2017)
Common variation in the sodium/glucose cotransporter 2 gene SLC5A2 does neither affect fasting nor glucose-suppressed plasma glucagon concentrations.
2017 Meeting abstract in Molecular and Cellular Pediatrics Mol. Cell. Pediatr. 4, 1:5 (2017)
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.
2017 Scientific Article in Diabetes Diabetes 66, 2019-2032 (2017)
A low-frequency inactivating Akt2 variant enriched in the Finnish population is associated with fasting insulin levels and type 2 diabetes risk.
2017 Scientific Article in Scientific Reports Sci. Rep. 7:44041 (2017)
The redox environment triggers conformational changes and aggregation of hIAPP in Type II Diabetes.
2017 Scientific Article in Journal of Molecular Endocrinology J. Mol. Endocrinol. 58, 67-68 (2017)
Genetic characterization of a mouse line with primary aldosteronism.
2017 Scientific Article in Molecular Metabolism Mol. Metab. 6, 256-266 (2017)
Bezafibrate ameliorates diabetes via reduced steatosis and improved hepatic insulin sensitivity in diabetic TallyHo mice.
2016 Meeting abstract in Diabetologia Diabetologia 59, S259-S259 (2016)
Systemic metabolic effects exerted by a point mutation in the RED subdomain of PAX6.
2016 Meeting abstract in Diabetologia Diabetologia 59, S274-S274 (2016)
Mitogenic activity of the metabolically relevant hepatokine FGF21 in human carcinoma cells.
2016 Meeting abstract in Diabetologia Diabetologia 59, S188-S188 (2016)
Dll1-and Dll4-mediated Notch signalling in adult pancreatic beta cells is essential for the structural integrity of islets and maintenance of glucose homeostasis.
2016 Meeting abstract in Diabetologia Diabetologia 59, S127-S127 (2016)
Targeted metabolomics to predict the primary success of metformin monotherapy in type 2 diabetes.
2016 Meeting abstract in Diabetologia Diabetologia 59, S47-S47 (2016)
miRNA signatures in maternal whole blood cells of women with gestational diabetes.
2016 Meeting abstract in Allergy Allergy 71, 47-47 (2016)
Alum-free thermosensitive hydrogel as matrix for immunomodulatory substances and allergens during allergen-specific immunotherapy.
2016 Letter to the Editor in Obstetrical & gynecological survey Obstet. Gynecol. Surv. 71, 719-720 (2016)
Epigenetic germline inheritance of diet-induced obesity and insulin resistance.
2016 Scientific Article in Molecular Neurobiology Mol. Neurobiol. 54, 8242–8262 (2016)
Serum response factor (SRF) ablation interferes with acute stress-associated immediate and long-term coping mechanisms.
2016 Scientific Article in Genes Genomes Genetics G3 Genes Genomes Genetics G3 6, 4035-4046 (2016)
The first Scube3 mutant mouse line with pleiotropic phenotypic alterations.
2016 Meeting abstract in Journal of Investigative Dermatology, The J. Invest. Dermatol. 136, 2, S231-S231 (2016)
Alum-free thermosensitive hydrogel as subcutaneous matrix for immunomodulators and allergens during specific immunotherapy.
2016 Scientific Article in Mammalian Genome Mamm. Genome 27, 587-598 (2016)
Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
2016 Scientific Article in Diabetes Diabetes 65, 3776-3785 (2016)
Metformin effect on non-targeted metabolite profiles in patients with type 2 diabetes and multiple murine tissues.
2016 Scientific Article in Journal of the American Society of Nephrology J. Am. Soc. Nephrol. 28, 761-768 (2016)
Hyperoxaluria requires TNF receptors to initiate crystal adhesion and kidney stone disease.
2016 Scientific Article in Glycoconjugate Journal Glycoconj. J. 34, 393–404 (2016)
A novel biological function of soluble biglycan: Induction of erythropoietin production and polycythemia.
2016 Scientific Article in Archives of Physiology and Biochemistry Arch. Physiol. Biochem. 122, 281-288 (2016)
Impact of fibroblast growth factor 21 on the secretome of human perivascular preadipocytes and adipocytes: A targeted proteomics approach.
2016 Scientific Article in Nature Nature 536, 41-47 (2016)
The genetic architecture of type 2 diabetes.
2016 Scientific Article in Diabetes Diabetes 65, 2849-2861 (2016)
TGFβ contributes to impaired exercise response by suppression of mitochondrial key regulators in skeletal muscle.
2016 Scientific Article in Diabetes Diabetes 65, 2540-2552 (2016)
Bezafibrate improves insulin sensitivity and metabolic flexibility in STZ-treated diabetic mice.
2016 Scientific Article in Mammalian Genome Mamm. Genome 27, 445-450 (2016)
INFRAFRONTIER: A European resource for studying the functional basis of human disease.
2016 Meeting abstract in Transgenic Research Transgenic Res. 25, 228 (2016)
EMMA: The European Mouse Mutant Archive.
2016 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 25, 2082-2092 (2016)
Testing the role of predicted gene knockouts in human anthropometric trait variation.
2016 Scientific Article in American Journal of Physiology - Renal Physiology Am. J. Physiol.-Renal Physiol. 310, F785-F795 (2016)
Oxalate-induced chronic kidney disease with its uremic and cardiovascular complications in C57BL/6 mice.
2016 Scientific Article in Mammalian Genome Mamm. Genome 27, 111-121 (2016)
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
2015 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 39, 499-508 (2015)
Evaluating the calibration and power of three gene-based association tests of rare variants for the X chromosome.
In: Han, D.* ; Kaplowitz, N.* [Eds.]: Mitochondria in Liver Disease. Boca Raton, FL: CRC Press, 2015. 383-412
Mitochondrial function, dysfunction, and adaption in the liver during the development of diabetes.
2015 Meeting abstract in Nephrology Dialysis Transplantation Nephrol. Dial. Transplant. 30:SP045 (2015)
Detailed morphological analyses of a novel mouse model of site-specific glomerular thrombotic microangiopathy.
2015 Scientific Article in Nature Communications Nat. Commun. 6:8261 (2015)
eIF6 coordinates insulin sensitivity and lipid metabolism by coupling translation to transcription.
2015 Scientific Article in Archives of Biochemistry and Biophysics Arch. Biochem. Biophys. 589, 93-107 (2015)
Metabolic switch during adipogenesis: From branched chain amino acid catabolism to lipid synthesis.
2015 Scientific Article in Development / Company of Biologists Development 142, 3009-3020 (2015)
Meis1 coordinates a network of genes implicated in eye development and microphthalmia.
2015 Scientific Article in Diabetes Care Diabetes Care 38, 1858-1867 (2015)
Effects of metformin on metabolite profiles and LDL cholesterol in patients with type 2 diabetes.
2015 Scientific Article in Transgenic Research Transgenic Res. 24, 921-927 (2015)
Blastocyst genotyping for quality control of mouse mutant archives: An ethical and economical approach.
2015 Scientific Article in Steroids Steroids 103, 123-144 (2015)
Steroids in teleost fishes: A functional point of view.
2015 Scientific Article in Diabetologia Diabetologia 58, 1845-1854 (2015)
Type 2 diabetes alters metabolic and transcriptional signatures of glucose and amino acid metabolism during exercise and recovery.
2015 Scientific Article in Diabetes Aktuell Diabetes akt. 13, 72-74 (2015)
Epigenetische Vererbung - ist die Zukunft diabetisch?
2015 Scientific Article in Diabetes Aktuell Diabetes akt. 13, 58-62 (2015)
5 Jahre erfolgreiche translationale Forschung - Deutsches Zentrum für Diabetesforschung.
2015 Scientific Article in BMC Genomics BMC Genomics 16:351 (2015)
Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over.
2015 Scientific Article in PLoS ONE PLoS ONE 10:e0125304 (2015)
New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.
2015 Scientific Article in PLoS Genetics PLoS Genet. 11:e1005165 (2015)
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.
2015 Scientific Article in Molecular Metabolism Mol. Metab. 4, 519-527 (2015)
Fibroblast growth factor 21 is elevated in metabolically unhealthy obesity and affects lipid deposition, adipogenesis, and adipokine secretion of human abdominal subcutaneous adipocytes.
2015 Scientific Article in Methods in Molecular Biology Methods Mol. Biol. 1295, 55-64 (2015)
Methods for proteomics-based analysis of the human muscle secretome using an in vitro exercise model.
2015 Scientific Article in PLoS Genetics PLoS Genet. 11:e1004876 (2015)
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
2015 Scientific Article in BioMetals Biometals 28, 293-306 (2015)
Screen for alterations of iron related parameters in N-ethyl-N-nitrosurea-treated mice identified mutant lines with increased plasma ferritin levels.
2015 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 24, 2247-2266 (2015)
MTO1 mediates tissue-specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
2015 Scientific Article in Developmental Biology Dev. Biol. 399, 2-14 (2015)
Loss of Npn1 from motor neurons causes postnatal deficits independent from Sema3A signaling.
2015 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 53, D1171-D1175 (2015)
INFRAFRONTIER - providing mutant mouse resources as research tools for the international scientific community.
2015 Scientific Article in Molecular Metabolism Mol. Metab. 4, 39-50 (2015)
High fat diet-induced modifications in membrane lipid and mitochondrial-membrane protein signatures precede the development of hepatic insulin resistance in mice.
2015 Scientific Article in Mammalian Genome Mamm. Genome 26, 33-42 (2015)
Generation of mice lacking DUF1220 protein domains: Effects on fecundity and hyperactivity.
2015 Scientific Article in Diabetes Diabetes 64, 284-290 (2015)
Metformin supports the antidiabetic effect of a sodium glucose cotransporter 2 inhibitor by suppressing endogenous glucose production in diabetic mice.
2014 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 4, 67-83 (2014)
In vitro fertilization in mice using the MBCD-GSH protocol.
2014 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 4, 85-104 (2014)
Contemporary techniques for freezing mouse spermatozoa.
2014 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 4, 47-65 (2014)
Transporting mouse embryos and germplasm as frozen or unfrozen materials.
2014 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 4, 205-227 (2014)
Conservation of mouse models through embryo freezing.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e114918 (2014)
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.
2014 Scientific Article in Beitrage zur Entomologie Beitr. Entomol. 64, 221-229 (2014)
Haplotypes, median networks, and diagnostic characters as tools to elucidate the intraspecific genetic and taxonomic structure of bumblebees, with a description of Bombus cryptarum pallidocinctus new subspecies (Hymenoptera: Apida: Bombus).
2014 Scientific Article in PLoS ONE PLoS ONE 9:e113125 (2014)
Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: Renal transcriptome studies in mouse models of uromodulin-associated kidney disease.
2014 Scientific Article in International Journal of Cancer Int. J. Cancer 136, 2293-2303 (2014)
MiR-34a deficiency accelerates medulloblastoma formation in vivo.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e111239 (2014)
Impact of temporal variation on design and analysis of mouse knockout phenotyping studies.
2014 Scientific Article in Nature Communications Nat. Commun. 5:5215 (2014)
Calcitonin controls bone formation by inhibiting the release of sphingosine 1-phosphate from osteoclasts.
2014 Meeting abstract in Transgenic Research Transgenic Res. 23, 851-852 (2014)
Efficient shipment of refrigerated mouse embryos across Europe.
2014 Meeting abstract in Transgenic Research Transgenic Res. 23, 851 (2014)
The INFRAFRONTIER research infrastructure and EMMA: The European mouse mutant archive.
2014 Meeting abstract in Transgenic Research Transgenic Res. 23, 899 (2014)
Infrafrontier research infrastructure.
2014 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 10:e1003843 (2014)
Fast synchronization of ultradian oscillators controlled by Delta-Notch signaling with Cis-inhibition.
2014 Scientific Article in Mammalian Genome Mamm. Genome 25, 497-507 (2014)
A review of standardized metabolic phenotyping of animal models.
2014 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 111, 13127-13132 (2014)
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
2014 Scientific Article in European Journal of Immunology Eur. J. Immunol. 44, 3232-3239 (2014)
Endothelial amine oxidase AOC3 transiently controbutes to adaptive immune responses in the airways.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e104568 (2014)
Pleiotropic functions for transcription factor Zscan10.
2014 Scientific Article in Journal of Biomedical Science J. Biomed. Sci. 21:68 (2014)
Standardized, systemic phenotypic analysis of Slc12a1 I299F mutant mice.
2014 Scientific Article in EMBO Journal, The EMBO J. 33, 2020-2039 (2014)
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.
2014 Scientific Article in Journal of Proteome Research J. Proteome Res. 13, 4220-4231 (2014)
The importance of sulfur-containing metabolites in discriminating fecal extracts between normal and type 2 diabetic mice.
2014 Scientific Article in ISME Journal ISME J. 8, 2380-2396 (2014)
Distinct signatures of host-microbial meta-metabolome and gut microbiome in two C57BL/6 strains under high-fat diet.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e98072 (2014)
Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments.
2014 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 23, 5597-5614 (2014)
Peroxidasin is essential for eye development in the mouse.
2014 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 94, 710-720 (2014)
Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
2014 Scientific Article in Frontiers in Behavioral Neuroscience Front. Behav. Neurosci. 8:125 (2014)
A robust and reliable non-invasive test for stress responsivity in mice.
2014 Scientific Article in Journal of Comparative Physiology B J. Comp. Physiol. B 184, 763-775 (2014)
High-throughput phenotypic assessment of cardiac physiology in four commonly used inbred mouse strains.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e93148 (2014)
Metabolic signatures of cultured human adipocytes from metabolically healthy versus unhealthy obese individuals.
2014 Scientific Article in Genome Medicine Genome Med. 6:25 (2014)
Interrogating causal pathways linking genetic variants, small molecule metabolites and circulating lipids.
2014 Scientific Article in Genome Research Genome Res. 24, 592-603 (2014)
Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
2014 Scientific Article in Journal of Breath Research J. Breath Res. 8:016004 (2014)
Effects of diet-matrix on volatile organic compounds in breath in diet-induced obese mice.
2014 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 289, 10715-10726 (2014)
No amelioration of uromodulin maturation and trafficking defect by sodium-4-phenylbutyrate in vivo: Studies in mouse models of uromodulin-associated kidney disease.
München, Technische Universität, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2014, 202 S.
In vivo and in vitro analysis of Dll1 and Pax6 function in the adult mouse pancreas.
2014 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 289, 10769-10784 (2014)
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.
2014 Scientific Article in Journal of Hepatology J. Hepatol. 60, 816-823 (2014)
Liver adapts mitochondrial function to insulin resistant and diabetic states in mice.
2014 Scientific Article in Biochimica et Biophysica Acta - Molecular Basis of Disease Biochim. Biophys. Acta-Mol. Basis Dis. 1842, 304–317 (2014)
Peri-conceptional obesogenic exposure induces sex-specific programming of disease susceptibilities in adult mouse offspring.
2014 Scientific Article in Mammalian Genome Mamm. Genome 25, 129-140 (2014)
Online breath gas analysis in unrestrained mice by hs-PTR-MS.
2014 Scientific Article in Biomedical Chromatography Biomed. Chromatogr. 28, 231-240 (2014)
The impact of blood on liver metabolite profiling - a combined metabolomic and proteomic approach.
2014 Scientific Article in European Journal of Pain Eur. J. Pain 18, 249-257 (2014)
Smad-interacting protein 1 affects acute and tonic, but not chronic pain.
2013 Scientific Article in Nature Genetics Nat. Genet. 45, 1418-1427 (2013)
Evaluating empirical bounds on complex disease genetic architecture.
2013 Scientific Article in Bioinformatics Bioinformatics 29, 2419-2426 (2013)
Assessing association between protein truncating variants and quantitative traits.
2013 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 37, 539-550 (2013)
Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e82392 (2013)
Efficient isolation of pure and functional mitochondria from mouse tissues using automated tissue disruption and enrichment with anti-TOM22 magnetic beads.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e80923 (2013)
A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington’s diesease CAG knock-in mice.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e81833 (2013)
Prdm6 is essential for cardiovascular development in vivo.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e78337 (2013)
Standardized, systemic phenotypic analysis of UmodC93F and UmodA227T mutant mice.
2013 Scientific Article in American Journal of Physiology - Cell Physiology Am. J. Physiol.-Cell Physiol. 305, C877-C886 (2013)
Cytokine response of primary human myotubes in an in vitro exercise model.
2013 Review in Journal of Internal Medicine J. Intern. Med. 274, 425-439 (2013)
Identification of biomarkers for apoptosis in cancer cell lines using metabolomics: Tolls for individualized medicine.
2013 Scientific Article in Experimental Dermatology Exp. Dermatol. 22, 667-669 (2013)
Ligand-independent epidermal growth factor receptor hyperactivation increases sebaceous gland size and sebum secretion in mice.
2013 Scientific Article in Mammalian Genome Mamm. Genome 24, 333-348 (2013)
Crybb2 coding for βB2-crystallin affects sensorimotor gating and hippocampal function.
2013 Scientific Article in Journal of Immunology J. Immunol. 191, 3913-3921 (2013)
IFIT2 is an effector protein of type 1 IFN-mediated amplification of lipopolysaccharide (LPS)-induced TNF-α secretion and LPS-induced endotoxin shock.
2013 Scientific Article in Mammalian Genome Mamm. Genome 24, 376-388 (2013)
Long-term experiment to study the development, interaction and influencing factors of DEXA parameters.
2013 Scientific Article in Diabetologia Diabetologia 57, 192-203 (2013)
Retinal proteome alterations in a mouse model of type 2 diabetes.
2013 Scientific Article in Pediatric Research Pediatr. Res. 74, 384-392 (2013)
Abca3 haploinsufficiency is a risk factor for lung injury induced by hyperoxia or mechanical ventilation in a murine model.
2013 Scientific Article in Biochimica et Biophysica Acta - Proteins and Proteomics Biochim. Biophys. Acta-Proteins Proteom. 1844, 1011-1017 (2013)
Secretome profiling of primary human skeletal muscle cells.
2013 Scientific Article in Genome Biology Genome Biol. 14:R82 (2013)
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
2013 Scientific Article in Mammalian Genome Mamm. Genome 24, 295-302 (2013)
Lens density tracking in mice by Scheimpflug imaging.
2013 Scientific Article in Molecular Metabolism Mol. Metab. 2, 435-446 (2013)
Phenotypic comparison of common mouse strains developing high-fat diet-induced hepatosteatosis.
2013 Scientific Article in Journal of Clinical Investigation J. Clin. Invest. 123, 3272-3291 (2013)
Rapamycin extends murine lifespan but has limited effects on aging.
2013 Scientific Article in American Journal of Pathology, The Am. J. Pathol. 183, 352-368 (2013)
An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.
2013 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 22, 4871-4887 (2013)
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA, and inflammatory factors.
2013 Scientific Article in Human Mutation Hum. Mutat. 34, 1102-1110 (2013)
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
2013 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 3, 69-100 (2013)
Clinical chemistry and other laboratory tests on mouse plasma and serum.
2013 Scientific Article in Current Protocols of Mouse Biology Curr. Protoc. Mouse Biol. 3, 101-119 (2013)
Blood collection from mice and hematological analyses on mouse blood.
2013 Scientific Article in Disease Models and Mechanisms Dis. Model. Mech. 6, 571-579 (2013)
Bloomsbury report on mouse embryo phenotyping: Recommendations from the IMPC workshop on embryonic lethal screening.
2013 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 22, 4148-4163 (2013)
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.
2013 Scientific Article in Bone: Official Journal of the International Bone and Mineral Society Bone 55, 501-511 (2013)
Modeling hepatic osteodystrophy in Abcb4 deficient mice.
2013 Scientific Article in Mammalian Genome Mamm. Genome 24, 198-205 (2013)
Longitudinal fundus and retinal studies with SD-OCT: A comparison of five mouse inbred strains.
2013 Review in Journal of Steroid Biochemistry and Molecular Biology, The J. Steroid Biochem. Mol. Biol. 137, 165-173 (2013)
Zebrafish and steroids: What do we know and what do we need to know?
2013 Scientific Article in PLoS ONE PLoS ONE 8:e61903 (2013)
Common genetic variation in the human FNDC5 locus, encoding the novel muscle-derived 'browning’ factor Irisin, determines insulin sensitivity.
2013 Scientific Article in Journal of Clinical Endocrinology & Metabolism, The J. Clin. Endocrinol. Metab. 98, E1137-E1142 (2013)
Production and release of acylcarnitines by primary myotubes reflect the differences in fasting fat oxidation of the donors.
2013 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 288, 16690-16703 (2013)
High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner.
2013 Scientific Article in Molecular Vision Mol. Vis. 19, 877-884 (2013)
Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e61406 (2013)
Mouse nuclear myosin 1 knock-out shows interchangeability and redundancy of myosin isoforms in the cell nucleus.
2013 Scientific Article in Systembiologie.de Systembiologie.de 6, 16-19 (2013)
Wer hat an der Uhr gedreht? Regulationsmechanismen der Segmentierung im Wirbeltierembryo.
2013 Scientific Article in PLoS Biology PLoS Biol. 11:e1001506 (2013)
Neuronal expression of glucosylceramide synthase in central nervous system regulates body weight and energy homeostasis.
2013 Scientific Article in DNA Repair DNA Repair 12, 356-366 (2013)
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities.
2013 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 110, 3782-3787 (2013)
Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides.
2013 Scientific Article in Diabetes Care Diabetes Care 36, 2331-2338 (2013)
Circulating lysophosphatidylcholines are markers of a metabolically benign nonalcoholic fatty liver.
2013 Scientific Article in Biochemical and Biophysical Research Communications Biochem. Biophys. Res. Commun. 432, 389-393 (2013)
Ex-vivo assessment and non-invasive in vivo imaging of internal hemorrhages in Aga2/+ mutant mice.
2013 Scientific Article in Journal of Bone and Mineral Metabolism J. Bone Miner. Metab. 31, 293-303 (2013)
In vitro analysis of bone phenotypes in Col1a1 and Jagged1 mutant mice using a standardized osteoblast cell culture system.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e54851 (2013)
Zebrafish 20β-hydroxysteroid dehydrogenase type 2 is important for glucocorticoid catabolism in stress response.
2013 Scientific Article in Journal of Proteome Research J. Proteome Res. 12, 1331-1343 (2013)
Apoe, Mbl2 and Psp plasma protein levels correlate with diabetic phenotype in NZO mice - an optimized rapid workflow for SRM-based quantification.
2013 Review in Antioxidants & Redox Signaling Antioxid. Redox Signal. 18, 1418-1427 (2013)
Neuroprotection after stroke by targeting NOX4 as a source of oxidative stress.
2013 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 133, 49-58 (2013)
Differential effects of neurofibromin gene dosage on melanocyte development.
2013 Scientific Article in Diabetes Diabetes 62, 639-648 (2013)
Identification of serum metabolites associated with risk of type 2 diabetes using a targeted metabolomic approach.
2013 Scientific Article in Oncogene Oncogene 32, 2586–2591 (2013)
Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
München, Ludwig-Maximilians-Universität, Tierärztliche Fakultät, Diss., 2012, 106 S.
Genetische und phänotypische Charakterisierung eines Mausmodells für erbliche Polycythämie.
2012 Scientific Article in Journal of Chromatography J. Chromatogr. B 910, 156-162 (2012)
Independent component analysis in non-hypothesis driven metabolomics: Improvement of pattern discovery and simplification of biological data interpretation demonstrated with plasma samples of exercising humans.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e50818 (2012)
The endocytic adaptor Eps15 controls marginal zone B cell numbers.
2012 Scientific Article in Journal of Endocrinology J. Endocrinol. 215, 375-381 (2012)
Gender-, strain- and inheritance-dependent variation in aldosterone secretion in mice.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 572-579 (2012)
Overview of new developments in and the future of cryopreservation in the laboratory mouse.
2012 Scientific Article in Journal of natural medicines J. Nat. Med. 18, 1847-1856 (2012)
Targeted estrogen delivery reverses the metabolic syndrome.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 559-571 (2012)
Centralized mouse repositories.
2012 Scientific Article in FASEB Journal FASEB J. 26, 5081-5091 (2012)
The hepatic phosphatidylcholine transporter ABCB4 as modulator of glucose homeostasis.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 600-610 (2012)
Mouse large-scale phenotyping initiatives: Overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute mouse genetics project.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 611-622 (2012)
Innovations in phenotyping of mouse models in the German Mouse Clinic.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e44609 (2012)
In vivo functional requirement of the mouse Ifitm1 gene for germ cell development, interferon mediated immune response and somitogenesis.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 580-586 (2012)
The mammalian gene function resource: The International Knockout Mouse Consortium.
2012 Scientific Article in Analytical Chemistry Anal. Chem. 84, 8853-8862 (2012)
Two-dimensional peptide separation improving sensitivity of selected reaction monitoring-based quantitative proteomics in mouse liver tissue: Comparing off-gel electrophoresis and strong cation exchange chromatography.
2012 Scientific Article in Molecular Systems Biology Mol. Syst. Biol. 8:615 (2012)
Novel biomarkers for pre-diabetes identified by metabolomics.
2012 Scientific Article in European Journal of Immunology Eur. J. Immunol. 42, 2395-2408 (2012)
A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia.
2012 Scientific Article in Molecular and Cellular Endocrinology Mol. Cell. Endocrinol. 362, 139-148 (2012)
Enhanced oxidative stress and endocrine pancreas alterations are linked to a novel glucokinase missense mutation in ENU-derived Munich GckD217V mutants.
2012 Scientific Article in Journal of Comparative Neurology, The J. Comp. Neurol. 520, 3150-3180 (2012)
Visualizing corticotropin-releasing hormone receptor type 1 expression and neuronal connectivities in the mouse using a novel multifunctional allele.
2012 Scientific Article in Journal of Dermatological Science J. Dermatol. Sci. 67, 190-192 (2012)
Gsdma3I359N is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis.
2012 Scientific Article in Journal of the American Association for Laboratory Animal Science J. Amer. Assoc. Lab. Anim. Sci. 51, 418-435 (2012)
Structural and functional concepts in current mouse phenotyping and archiving facilities.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e41537 (2012)
Functional inactivation of the genome-wide association study obesity gene neuronal growth regulator 1 in mice causes a body mass phenotype.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 416-430 (2012)
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
2012 Scientific Article in FASEB Journal FASEB J. 26, 2916-2930 (2012)
Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathology.
2012 Scientific Article in European Journal of Oral Sciences Eur. J. Oral Sci. 120, 269-277 (2012)
Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines.
2012 Scientific Article in FASEB Journal FASEB J. 26, 4418-4428 (2012)
Srgap3-/- mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes.
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Mouse genetics and metabolic mouse phenotyping.
2012 Scientific Article in BMC Neuroscience BMC Neurosci. 13:61 (2012)
Voluntary wheel running in mice increases the rate of neurogenesis without affecting anxiety-related behaviour in single tests.
2012 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 21, 3535-3545 (2012)
Cardiopulmonary dysfunction in the osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
2012 Scientific Article in Acta Neuropathologica Acta Neuropathol. 124, 187-197 (2012)
Long-term proteasomal inhibition in transgenic mice by UBB+1 expression results in dysfunction of central respiration control reminiscent of brainstem neuropathology in Alzheimer patients.
2012 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 8:e1002586 (2012)
From dynamic expression patterns to boundary formation in the presomitic mesoderm.
In: Ruf, T.* ; Bieber, C.* ; Arnold, W.* ; Millesi, E.* [Eds.]: Living in a Seasonal World. Berlin, Heidelberg: Springer, 2012. 459-469
Systematic screening for mutant mouse lines with defects in body temperature regulation.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e38310 (2012)
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
2012 Scientific Article in Nature Methods Nat. Methods 9, 615-620 (2012)
FMT-XCT: In vivo animal studies with hybrid fluorescence molecular tomography-X-ray computed tomography.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e35035 (2012)
MAPK signaling determines anxiety in the juvenile mouse brain but depression-like behavior in adults.
2012 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 109, 9354-9359 (2012)
Modeling disease mutations by gene targeting in one-cell mouse embryos.
2012 Scientific Article in PLoS Genetics PLoS Genet. 8:e1002711 (2012)
Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone.
2012 Scientific Article in American Journal of Pathology, The Am. J. Pathol. 180, 1378-1385 (2012)
Negative feedback mechanisms surpass the effect of intrinsic EGFR activation during skin chemical carcinogenesis.
2012 Scientific Article in Molecular and Cellular Endocrinology Mol. Cell. Endocrinol. 349, 202-213 (2012)
Discovery of a novel enzyme mediating glucocorticoid catabolism in fish: 20beta-hydroxysteroid dehydrogenase type 2.
2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 259-269 (2012)
Clinical chemistry of human FcRn transgenic mice.
2012 Scientific Article in Experimental Neurology Exp. Neurol. 235, 214-227 (2012)
Pink1-deficiency in mice impairs gait, olfaction and serotonergic innervation of the olfactory bulb.
2012 Scientific Article in PLoS Genetics PLoS Genet. 8:e1002568 (2012)
Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e32354 (2012)
Expression of Tas1 taste receptors in mammalian spermatozoa: Functional role of Tas1r1 in regulating basal Ca2+ and cAMP concentrations in spermatozoa.
2011 Scientific Article in Animal Animal 5, 663-671 (2011)
A sensitised mutagenesis screen in the mouse to explore the bovine genome: Study of muscle characteristics.
München, Technische Universität, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2011, 196 S.
Discovery of new pathomechanisms in murine bone disease mutants by systemic analysis.
2011 Scientific Article in Particle and Fibre Toxicology Part. Fibre Toxicol. 8:28 (2011)
Carbon-nanoparticle-triggered acute lung inflammation and its resolution are not altered in PPARγ-defective (P465L) mice.
2011 Scientific Article in Particle and Fibre Toxicology Part. Fibre Toxicol. 8:30 (2011)
Comparison of particle-exposure triggered pulmonary and systemic inflammation in mice fed with three different diets.
2011 Scientific Article in Biochemical and Biophysical Research Communications Biochem. Biophys. Res. Commun. 413, 537-540 (2011)
Systematic selection of housekeeping genes for gene expression normalization in chicken embryo fibroblasts infected with Newcastle disease virus.
2011 Scientific Article in Mammalian Genome Mamm. Genome 22, 495-505 (2011)
Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters.
2011 Scientific Article in European Journal of Endocrinology Eur. J. Endocrinol. 165, 555-561 (2011)
Monocarboxylate transporter 8 deficiency: Altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.
2011 Scientific Article in Pain Pain 152, 2384-2398 (2011)
The transcription factor Smad-interacting protein 1 controls pain sensitivity via modulation of DRG neuron excitability.
2011 Scientific Article in Nature Nature 477, 54-60 (2011)
Human metabolic individuality in biomedical and pharmaceutical research.
2011 Scientific Article in Respiratory Research Respir. Res. 12, 94 (2011)
Impaired resolution of inflammatory response in the lungs of JF1/Msf mice following carbon nanoparticle instillation.
2011 Scientific Article in Nature Communications Nat. Commun. 2:395 (2011)
Toxicity modelling of Plk1-targeted therapies in genetically engineered mice and cultured primary mammalian cells.
2011 Scientific Article in PLoS ONE PLoS ONE 6:e23678 (2011)
The pathologic effect of a novel neomorphic Fgf9Y162C allele is restricted to decreased vision and retarded lens growth.
2011 Scientific Article in Diabetologia Diabetologia 54, 2132-2142 (2011)
Osteopontin deficiency protects against obesity-induced hepatic steatosis and attenuates glucose production in mice.
2011 Scientific Article in Journal of Biomolecular Screening J. Biomol. Screen. 16, 467-475 (2011)
Identification of a potential biomarker for FABP4 inhibition: The power of lipidomics in preclinical drug testing.
2011 Scientific Article in Arthritis & Rheumatology Arthritis Rheum. 63, 1301-1311 (2011)
A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model.
2011 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 286, 18614-18622 (2011)
Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice.
2011 Scientific Article in Molecular Vision Mol. Vis. 17, 1164-1171 (2011)
Microphakia and congenital cataract formation in a novel Lim2C51R mutant mouse.
2011 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 52, 2571-2576 (2011)
First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.
2011 Scientific Article in OMICS OMICS 15, 141-154 (2011)
Huge splicing frequency in human Y chromosomal UTY gene.
2011 Scientific Article in Journal of Cell Science J. Cell Sci. 124, 1245-1255 (2011)
Missing-in-metastasis MIM/MTSS1 promotes actin assembly at intercellular junctions and is required for integrity of kidney epithelia.
2011 Scientific Article in Endocrinology Endocrinology 152, 326-331 (2011)
Utilization of a mutagenesis screen to generate mouse models of hyperaldosteronism.
2011 Scientific Article in Blood Blood 117, 519-529 (2011)
Immune modulation by Fas ligand reverse signaling: Lymphocyte proliferation is attenuated by the intracellular Fas ligand domain.
2011 Review in Methods Methods 53, 120-135 (2011)
Mouse phenotyping.
2010 Scientific Article in Proceedings of SPIE Proc. SPIE 7622:762230 (2010)
Development and quality characterization of a novel CT system.
2010 Scientific Article in Tissue Antigens Tissue Antigens 75, 65-67 (2010)
Mapping of susceptibility locus for endometriosis within the HLA region using microsatellite markers in Japanese women.
2010 Editorial in Science Science 330, 592-593 (2010)
Research funding: Sustaining the data and bioresource commons.
2010Vortrag: EVER-Meeting (Eurpean Vision and Eye Researchers), 6.-9. Oktober 2010, Kreta. (2010)
Mutation in the Bmpr1b gene affects optic nerve development.
2010Vortrag: XIX Biennal Meeting of the International Society for Eye Research (ISER), 18-23 July 2010, Montreal, Canada. (2010)
New lessons from mouse mutants for eye and lens development: The role of BMPR1B, FGF9, FGF10 and GJF1.
2010 Scientific Article in Environmental Toxicology and Pharmacology Environ. Toxicol. Pharmacol. 29, 190-194 (2010)
Association study between sick building syndrome and polymorphisms of seven human detoxification genes in the Japanese.
2010 Scientific Article in PLoS ONE PLoS ONE 5:e13953 (2010)
Metabolic footprint of diabetes: A multiplatform metabolomics study in an epidemiological setting.
2010 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 107, 15022-15026 (2010)
Gene targeting by homologous recombination in mouse zygotes mediated by zinc-finger nucleases.
2010 Scientific Article in Beitrage zur Entomologie Beitr. Entomol. 60, 229-242 (2010)
A phylogenetic framework for the North American bumblebee species of the subgenus Bombus sensu stricto (Bombus affinis, B. franklini, B. moderatus, B. occidentalis & B. terricola) based on mitochondrial DNA markers.
2010 Scientific Article in Beitrage zur Entomologie Beitr. Entomol. 60, 13-32 (2010)
Phylogenetic relationships of the bumblebees Bombus moderatus, B. albocinctus, B. burjaeticus, B. florilegus and B. cryptarum based on mitochondrial DNA markers: A complex of closely related taxa with circumpolar distribution.
2010 Scientific Article in Biochemical and Biophysical Research Communications Biochem. Biophys. Res. Commun. 399, 531-536 (2010)
Selection and evaluation of stable housekeeping genes for gene expression normalization in carbon nanoparticle-induced acute pulmonary inflammation in mice.
2010 Scientific Article in PLoS Biology PLoS Biol. 8:e1000479 (2010)
Post-stroke inhibition of induced NADPH oxidase type 4 prevents oxidative stress and neurodegeneration.
2010 Scientific Article in Pathologe, Der Pathologe 31, 2, 147-152 (2010)
Charakterisierung von ENU-Mausmutanten. Tiermodelle für menschliche Erkrankungen mittels morphologischer und molekularer Methoden.
2010 Scientific Article in Gene Expression Patterns Gene Expr. Patterns 10, 265-273 (2010)
Combination of in silico and in situ hybridisation approaches to identify potential Dll1 associated miRNAs during mouse embryogenesis.
2010 Scientific Article in EMBO Journal, The EMBO J. 29, 2421-2432 (2010)
CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice.
2010 Scientific Article in Science Science 328, 1158-1161 (2010)
Cyclooxygenase-2 controls energy homeostasis in mice by de novo recruitment of brown adipocytes.
2010 Scientific Article in American Journal of Physiology - Renal Physiology Am. J. Physiol.-Renal Physiol. 298, F1405-F1415 (2010)
Mutation of the Na⁺-K⁺-2Cl‾ cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia.
2010 Scientific Article in Nature Biotechnology Nat. Biotechnol. 28, 684-685 (2010)
Systematic phenotyping of mouse mutants.
2010 Scientific Article in Journal of Neuroscience J. Neurosci. 30, 9103-9116 (2010)
Urocortin 3 modulates social discrimination abilities via corticotropin-releasing hormone receptor type 2.
2010 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 285, 21724-21735 (2010)
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
2010 Scientific Article in PLoS ONE PLoS ONE 5:e9468 (2010)
Loss of the actin remodeler Eps8 causes intestinal defects and improved metabolic status in mice.
2010 Scientific Article in Development / Company of Biologists Development 137, 437-445 (2010)
Domain-specific control of neurogenesis achieved through patterned regulation of Notch ligand expression.
2010 Scientific Article in American Journal of Physiology - Endocrinology and Metabolism Am. J. Physiol. Endocrinol. Metab. 298, E512-E523 (2010)
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2).
2010 Scientific Article in Experimental and Molecular Pathology Exp. Mol. Pathol. 88, 216-218 (2010)
EGFR ligands exert diverging effects on male reproductive organs.
2010 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 38, D570-D576 (2010)
EMMA - mouse mutant resources for the international scientific community.
2010 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 38, 1, D577-D585 (2010)
EuroPhenome: A repository for high-throughput mouse phenotyping data.
2010 Scientific Article in American Journal of Respiratory and Critical Care Medicine Am. J. Respir. Crit. Care Med. 181, 7-16 (2010)
Specific CD8 T cells in IgE-mediated allergy correlate with allergen dose and allergic phenotype.
2010 Scientific Article in Nature Genetics Nat. Genet. 42, 137-141 (2010)
A genome-wide perspective of genetic variation in human metabolism.
2010 Scientific Article in Mammalian Genome Mamm. Genome 21, 13-27 (2010)
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3(416insG ) mice.
2010 Scientific Article in Genes, Brain and Behavior Genes Brain Behav. 9, 305-317 (2010)
DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments.
2009 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 50, 5653-5661 (2009)
Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2(G257D) mutant mouse.
München, Technische Universität München, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2009, 138 S.
Development of an osteoblast cell culture system for functional characterization and comparative analyses of mouse models with bone phenotypes and systemic investigation of an Osteogenesis imperfecta disease model.
2009Vortrag: 52. Symposion der Deutschen Gesellschaft für Endokrinologie, 04-07 May 2009, Gießen, Germany. (2009)
Characterisation of a mouse model with mutagenesis induced hyperaldosteronism.
2009 Scientific Article in Methods in Molecular Biology Methods Mol. Biol. 530, 407-420 (2009)
Sperm cryopreservation and in vitro fertilization.
2009 Scientific Article in Methods in Molecular Biology Methods Mol. Biol. 530, 463-509 (2009)
Systemic first-line phenotyping.
2009 Other: Opinion in Nature Nature 461, 171-173 (2009)
Post-publication sharing of data and tools.
2009 Scientific Article in Mammalian Genome Mamm. Genome 20, 664-673 (2009)
Effect of IVF and laser zona dissection on DNA methylation pattern of mouse zygotes.
2009 Scientific Article in American Journal of Physiology - Renal Physiology Am. J. Physiol.-Renal Physiol. 297, F1391-F1398 (2009)
Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism.
2009 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 50, 4311-4318 (2009)
A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: A novel model for dry-eye disease?
2009 Scientific Article in Cytogenetic and Genome Research Cytogenet. Genome Res. 125, 186-200 (2009)
Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function.
2009 Scientific Article in Infection and Immunity Infect. Immun. 77, 3948-3957 (2009)
Clinical chemistry of congenic mice with quantitative trait loci for predicted responses to Trypanosoma congolense infection.
2009 Scientific Article in Methods in Molecular Biology Methods Mol. Biol. 530, 407-420 (2009)
Sperm cryopreservation and in vitro fertilization.
2009 Scientific Article in Methods in Molecular Biology Methods Mol. Biol. 530, 463-509 (2009)
Systemic first-line phenotyping.
2009 Scientific Article in PLoS ONE PLoS ONE 4:e5170 (2009)
Mechanisms controlling anaemia in Trypanosoma congolense infected mice.
2009 Scientific Article in PLoS ONE PLoS ONE 4:e6054 (2009)
Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes.
2009 Scientific Article in Journal of Molecular Endocrinology J. Mol. Endocrinol. 42, 407-413 (2009)
Short term regulation of aldosterone secretion after stimulation and suppression experiments in mice.
2009 Scientific Article in FASEB Journal FASEB J. 23, 3233-3242 (2009)
Mitochondrial glutathione peroxidase 4 disruption causes male infertility.
2009 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 284, 23083-23093 (2009)
Characterization of phospholipase Cγ enzymes with gain-of-function mutations.
2009 Scientific Article in Journal of Neuroscience J. Neurosci. 29, 9439-9449 (2009)
Neuronal 3',3,5-triiodothyronine (T₃) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T₃ transporter mutated in Allan-Herndon-Dudley syndrome.
2009 Scientific Article in Journal of Biomedical Science J. Biomed. Sci. 16:53 (2009)
N-ethyl-N-nitrosourea mutagenesis produced a small number of mice with altered plasma electrolyte levels.
2009 Scientific Article in International Journal of Cancer Int. J. Cancer 124, 140-149 (2009)
Cancer-retina antigens as potential paraneoplastic antigens in melanoma-associated retinopathy.
2009 Scientific Article in Nature Genetics Nat. Genet. 41, 614-618 (2009)
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.
2009 Scientific Article in British Journal of Cancer BJC Br. J. Cancer 100, 656-662 (2009)
Overexpressed vs mutated Kras in murine fibroblasts: A molecular phenotyping study.
2009 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 106, 3354-3359 (2009)
Inflammation and mitochondrial fatty acid beta-oxidation link obesity to early tumor promotion.
2009 Scientific Article in Developmental Biology Dev. Biol. 328, 285-296 (2009)
Catweasel mice: A novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.
2009 Review in Current Pharmaceutical Biotechnology Curr. Pharm. Biotechnol. 10, 198-213 (2009)
Features and strategies of ENU mouse mutagenesis.
2009 Scientific Article in Cell Cell 137, 961-971 (2009)
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.
2009 Review in Nature Reviews - Genetics Nat. Rev. Genet. 10, 371-380 (2009)
Towards better mouse models: Enhanced genotypes, systemic phenotyping and envirotype modelling.
2009 Review in Current Pharmaceutical Biotechnology Curr. Pharm. Biotechnol. 10, 236-243 (2009)
The German Mouse Clinic: A platform for systemic phenotype analysis of mouse models.
2009 Scientific Article in Experimental Physiology Exp. Physiol. 94, 412-421 (2009)
Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models.
2009 Scientific Article in FEBS Letters FEBS Lett. 583, 1349-1357 (2009)
The C-terminal cytoplasmic domain of human proEGF is a negative modulator of body and organ weights in transgenic mice.
2009 Scientific Article in Endocrinology Endocrinology 150, 1722-1730 (2009)
Expression pattern of G protein-coupled receptor 30 in LacZ reporter mice.
2009 Scientific Article in Mammalian Genome Mamm. Genome 20, 152-161 (2009)
Genome-wide search for genes that modulate inflammatory arthritis caused by Ali18 mutation in mice.
2009 Scientific Article in Biochimica et Biophysica Acta - Bioenergetics Biochim. Biophys. Acta-Bioenerg. 1787, 371-376 (2009)
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
2008 Scientific Article in BMC Developmental Biology BMC Dev. Biol. 8:118 (2008)
Pleiotropic effects in Eya3 knockout mice.
2008 Scientific Article in Mammalian Genome Mamm. Genome 19, 77-84 (2008)
A phenotype-driven ENU mutagenesis screen for the identification of dominant mutations involved in alcohol consumption.
2008 Scientific Article in Molecular Oncology Mol. Oncol. 2, 356-367 (2008)
The CALM and CALM/AF10 interactor CATS is a marker for proliferation.
2008 Scientific Article in PLoS Genetics PLoS Genet. 4:e1000238 (2008)
The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.
2008 Scientific Article in PLoS Genetics PLoS Genet. 4:e1000207 (2008)
A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.
2008 Scientific Article in The journal of allergy and clinical immunology J. Allergy Clin. Immunol. 121, 179-184 (2008)
Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis.
2008 Scientific Article in Genesis : The Journal of Genetics and Development Genesis 46, 463-477 (2008)
Sall4 isoforms act during proximal-distal and anterior-posterior axis formation in the mouse embryo.
2008 Scientific Article in Nature Genetics Nat. Genet. 40, 963-970 (2008)
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
2008 Scientific Article in Neurobiology of Aging Neurobiol. Aging 29, 1404-1411 (2008)
Creatine improves health and survival of mice.
2008 Scientific Article in Frontiers in Bioscience Front. Biosci. 13, 5810-5823 (2008)
'Sighted C3H' mice - a tool for analysing the influence of vision on mouse behaviour?
2008 Scientific Article in Frontiers in Bioscience Front. Biosci. 13, 6269-6275 (2008)
Variation of the response to the optokinetic drum among various strains of mice.
2008 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 49, 1525-1532 (2008)
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.
2008 Scientific Article in Journal of Musculoskeletal and Neuronal Interactions J. Musculoskelet. Neuronal. Interact. 8, 13-14 (2008)
Phenotypic characterization of mouse models for bone-related diseases in the German Mouse Clinic.
2008 Scientific Article in Proteomics Proteomics 8, 1248-1256 (2008)
Systematic gene expression profiling of mouse model series reveals coexpressed genes.
2008 Scientific Article in Proteomics Proteomics 8, 1165-1169 (2008)
An approach to handling and interpretation of ambiguous data in transcriptome and proteome comparisons.
2008 Scientific Article in Mutation Research / Fundamental and Molecular Mechanisms of Mutagenesis Mutat. Res. -Fund. Mol. Mech. Mutag. 651, 105-113 (2008)
The chemotherapeutic agents nocodazole and amsacrine cause meiotic delay and non-disjunction in spermatocytes of mice.
2008 Scientific Article in Rheumatology Rheumatology 47, 292-300 (2008)
Novel lymphocyte-independent mechanisms to initiate inflammatory arthritis via bone marrow-derived cells of Ali18 mutant mice.
2008 Scientific Article in American Journal of Physiology - Endocrinology and Metabolism Am. J. Physiol. Endocrinol. Metab. 294, 232-240 (2008)
Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects.
2008 Scientific Article in PLoS Genetics PLoS Genet. 4:e7 (2008)
ER stress-mediated apoptosis in a new mouse model of Osteogenesis imperfecta.
München, Technische Universität München, Wissenschaftszentrum Weihenstephan, Diss., 2007, 147 S.
Ein neuartiges Konzept zur genomweiten Kartierung von ENU-induzierten Mausmutanten im Hochdurchsatz.
2007Vortrag: Neuroscience Conference, 3-07 November 2007, San Diego, USA. (2007)
A mouse model for human-specific changes in FOXP2, a gene important for speech and language.
2007 Scientific Article in Reproduction, Fertility and Development Reprod. Fertil. Dev. 19, 984-994 (2007)
Emergency prevention of extinction of a transgenic allele in a less-fertile transgenic mouse line by crossing with an inbred or outbred mouse strain coupled with assisted reproductive technologies.
2007 Scientific Article in Genesis : The Journal of Genetics and Development Genesis 45, 722-727 (2007)
Targeted disruption of Mib2 causes exencephaly with a variable penetrance.
2007 Scientific Article in BioSpektrum BioSpektrum 13, 504-506 (2007)
Von der funktionellen Genomforschung zur systemischen Krankheitsanalyse.
2007 Scientific Article in Lipids Lipids 42, 731-737 (2007)
Generation of ENU-induced mouse mutants with hypocholesterolemia: Novel tools for dissecting plasma lipoprotein homeostasis.
2007 Scientific Article in American Journal of Physiology - Renal Physiology Am. J. Physiol.-Renal Physiol. 292, 1560-1567 (2007)
Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models.
2007 Scientific Article in Journal of Theoretical Biology J. Theor. Biol. 248, 120-129 (2007)
Cell-based simulation of dynamic expression patterns in the presomitic mesoderm.
2007 Scientific Article in BMC Developmental Biology BMC Dev. Biol. 7:81 (2007)
KIT is required for hepatic function during mouse post-natal development.
2007 Scientific Article in Journal of Dental Research - JDR Online J. Dent. Res. 86, 764-768 (2007)
A mutation in the enamelin gene in a mouse model.
2007 Scientific Article in Briefings in Functional Genomics Brief. Funct. Genomic. Proteomic. 6, 186-192 (2007)
EMMA - The European mouse mutant archive.
2007 Scientific Article in Diabetes Diabetes 56, 1268-1276 (2007)
Dominant-Negative Effects of a Novel Mutated Ins2 Allele Causes Early-Onset Diabetes and Severe ß-Cell Loss in Munich Ins2C95S Mutant Mice.
2007 Scientific Article in Biochemical and Biophysical Research Communications Biochem. Biophys. Res. Commun. 359, 947-951 (2007)
Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.
In: Fox, J.* [Eds.]: The Mouse in Biomedical Research. Amsterdam: Elsevier, 2007. 225-260
Chemical mutagenesis in mice.
2007 Scientific Article in Mammalian Genome Mamm. Genome 18, 157-163 (2007)
Integration of mouse phenome data resources.
2007 Scientific Article in Journal of Steroid Biochemistry and Molecular Biology, The J. Steroid Biochem. Mol. Biol. 103, 35-43 (2007)
Functional genome analysis indicates loss of 17beta-hydroxysteroid dehydrogenase type 2 enzyme in the zebrafish.
2006 Scientific Article in Mammalian Genome Mamm. Genome 17, 1172-1182 (2006)
Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations : Krt71(rco12) and Krt71(rco13).
2006 Scientific Article in Nature Genetics Nat. Genet. 38, 967-969 (2006)
Iron homeostasis in the brain : Complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse.
2006 Scientific Article in Mammalian Genome Mamm. Genome 17, 851-857 (2006)
Variations of eye size parameters among different strains of mice.
2006 Scientific Article in Genetics Genetics 173, 2111-2119 (2006)
Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (tmc1Bth) mouse model of progressive hearing loss DFNA36.
2006 Scientific Article in Mammalian Genome Mamm. Genome 17, 915-926 (2006)
New ENU-induced semidominant mutation, Ali18, causes inflammatory arthritis, dermatitis and osteoporosis in the mouse.
2006 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 126, 1013-1016 (2006)
A mouse Keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.
2006 Scientific Article in LabAnimal Lab. Animal. 40, 247-260 (2006)
Microbiological monitoring of laboratory mice and biocontainment in individually ventilated cages: A field study.
2006 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 127, 60-64 (2006)
Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus.
2006 Scientific Article in Applied Physics Letters Appl. Phys. Lett. 88:102102 (2006)
Conductivity of single-stranded and double-stranded deoxyribose nucleic acid under ambient conditions: The dominance of water.
2006 Scientific Article in Theoretical Biology and Medical Modelling Theor. Biol. Med. Model. 3, 11:11 (2006)
Number of active transcription factor binding sites is essential for the Hes7 oscillator.
2006 Scientific Article in Mammalian Genome Mamm. Genome 17, 93-102 (2006)
Genotype-specific environmental impact on the variance of blood values in inbred and F1 hybrid mice.
2006 Scientific Article in Biology of Reproduction Biol. Reprod. 74, 246-252 (2006)
Risk assessment of mouse hepatitis virus infection via in vitro fertilization and embryo transfer by the use of zona-intact and laser-microdissected oocytes.
München, Ludwig-Maximilians-Universität, Diss., 2005, 161 S.
Risikoeinschätzung einer Infektion mit Maus Hepatitis Virus bei der Anwendung von kryokonservierten Mausspermien in der in vitro Fertilisation mit intakten und laserbehandelten Oozyten.
2005 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 46, 4671-4683 (2005)
Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.
2005 Scientific Article in Nature Genetics Nat. Genet. 37, 1155 (2005)
EMPReSS: Standardized phenotype screens for functional annotation of the mouse genome.
2005 Scientific Article in Nature Methods Nat. Methods 2, 403-404 (2005)
Introducing the German Mouse Clinic: Open access platform for standardized phenotyping.
2005 Scientific Article in Nephron : Experimental Nephrology Nephron Exp. Nephrol 100, 143-149 (2005)
Large-scale albuminuria screen for nephropathy models in chemically induced mouse mutants.
2005 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 33, 2, W496-W500 (2005)
ARTS: A web-based tool for the set-up of high-throughput genome-wide mapping panels for the SNP genotyping of mouse mutants.
2005 Scientific Article in Mutation Research / Fundamental and Molecular Mechanisms of Mutagenesis Mutat. Res. -Fund. Mol. Mech. Mutag. 583, 158-167 (2005)
Orthovanadate increased the frequency of aneuploid mouse sperm without micronucleus induction in mouse bone marrow erythrocytes at the same dose level.
2005 Scientific Article in Laryngoscope, The Laryngoscope 115, 116-124 (2005)
Hush puppy: A new mouse mutant with pinna, ossicle and inner ear defects.
2005 Scientific Article in Immunity Immunity 22, 451-465 (2005)
Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase Cgamma2 that specifically increases external Ca2+ entry.
2005 Scientific Article in Molecular and Cellular Biology Mol. Cell. Biol. 25, 1980-1988 (2005)
Cytoplasmic thioredoxin reductase is essential for embryogenesis but dispensable for cardiac development.
2005 Scientific Article in American Journal of Respiratory and Critical Care Medicine Am. J. Respir. Crit. Care Med. 171, 880-888 (2005)
Genomewide linkage analysis identifies novel genetic loci for lung function in mice.
2005 Scientific Article in International Journal of Cancer Int. J. Cancer 114, 590-597 (2005)
Identification and validation of novel ERBB2 (HER2, NEU) targets including genes involved in angiogenesis.
In: Heinrich, U.* [Eds.]: Effects of air contaminants on the respiratory tract - Interpretations from molecular to meta analysis. 9. International Inhalat. Stuttgart: Fraunhofer-IRB-Verl., 2004. 435-444 (INIS Monographs)
Differences in lung function among mouse inbred strains are genetically determined.
2004 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 123, 1030-1036 (2004)
Alterations of glucosylceramide-ß-glucosidase levels in the skin of patients with psoriasis vulgaris.
2004 Scientific Article in Nature Genetics Nat. Genet. 36, 925-927 (2004)
The European dimension for the mouse genome mutagenesis program.
2004 Scientific Article in Otology & Neurotology Otol. Neurotol. 25, 707-713 (2004)
Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.
2004 Scientific Article in Journal of Lipid Research J. Lipid Res. 45, 2132-2137 (2004)
Hypercholesterolemia in ENU-induced mouse mutants.
2004 Scientific Article in Journal of Dental Research - JDR Online J. Dent. Res. 83, 608-812 (2004)
Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21).
2004 Scientific Article in Endocrinology Endocrinology 145, 2531-2541 (2004)
A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia and obesity.
2004 Scientific Article in Mammalian Genome Mamm. Genome 15, 686-697 (2004)
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.
2004 Scientific Article in Genomics Genomics 84, 824-835 (2004)
The dominant alopecia phenotypes Bareskin, Rex-denuded and recuced coat 2 are caused by mutations in gasdermin 3.
2004 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 101, 14126-14131 (2004)
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
2004 Scientific Article in Nature Genetics Nat. Genet. 36, 961-968 (2004)
Effects of G-protein mutations on skin color.
2004 Scientific Article in Mammalian Genome Mamm. Genome 15, 424-432 (2004)
An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.
2004 Scientific Article in Genomics Genomics 83, 932-935 (2004)
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.
2004 Scientific Article in Cytogenetic and Genome Research Cytogenet. Genome Res. 104, 271-276 (2004)
Heritable translocations by dermal exposure of male mice to acrylamide.
2004 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 45, 601-609 (2004)
Electroretinography as a screening method for mutations causing retinal dysfunction in mice.
2004 Scientific Article in Reproduction, Fertility and Development Reprod. Fertil. Dev. 16, 211-212 (2004)
Importance of embryo transfers in transgenic mouse facilities.
2003 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 121, 674-680 (2003)
Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency.
2003 Scientific Article in Current Genomics Curr. Genomics 4, 615-621 (2003)
Artefacts and Reliability of DNA Microarray Expression Profiling Data.
2003 Scientific Article in Journal of Molecular Biology J. Mol. Biol. 333, 229-235 (2003)
Interaction of the MAGUK family member Acvrinp1 and the cytoplasmic domain of the notch ligand Delta1.
2003 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 31, 2-10 (2003)
Specificity assessment from fractionation experiments (SAFE) : a novel method to evaluate microarray probe specificity based on hybridisation strinencies.
In: Proceedings (8th FELASA Symposium). London: Laboratory Animals Ltd, 2002. 19-22
The GSF - Phenotype analysis center (German Mouse Clinic, GMC) : a sentinel-based health monitoring concept in a multi-user unit for standardized characterization of mouse mutants.
2001 Scientific Article in Genomics Genomics 74, 320-332 (2001)
Isolation and Characterization of a Novel Gene from the DiGeorge Chromosomal Region That Encodes for a Mediator Subunit.
2001 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 42, 1574-1580 (2001)
Aey2, a New Mutation in the ßB2-Crystallin-Encoding Gene of the Mouse.
2001 Scientific Article in Genetics Genetics 157, 1313-1320 (2001)
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.
2001 Scientific Article in Investigative Ophthalmology & Visual Science, IOVS Invest. Ophthalmol. Vis. Sci. 42, 2909-2915 (2001)
Characterization of a New, Dominant V124E Mutation in the Mouse alphaA-Crystallin-Encoding Gene.
2000 Scientific Article in Experimental Physiology Exp. Physiol. 85, 635-644 (2000)