Lorenz-Depiereux

2024 Scientific Article in Gesundheitswesen, Das Gesundheitswesen 86, 647-654 (2024)

Hofmann, A.L. ; Vehreschild, J.J. ; Witzenrath, M. ; Hoffmann, W. ; ... ; Anton, G. ; Kraus, M. ; Lorenz-Depiereux, B. ; Reese, J.P.

Integration von Bestandsdaten aus Kohorten- und Registerstudien in ein existierendes Forschungsnetzwerk: Nationales Pandemie Kohorten Netz (NAPKON).

2024 Scientific Article in Infection - A Journal of Infectious Disease Infection, DOI: 10.1007/s15010-024-02270-5 (2024)

Hopff, S.M. ; Appel, K.S. ; Miljukov, O. ; Schneider, J. ; ... ; Lorenz-Depiereux, B. ; Vehreschild, J.J.

Comparison of post-COVID-19 symptoms in patients infected with the SARS-CoV-2 variants delta and omicron-results of the Cross-Sectoral Platform of the German National Pandemic Cohort Network (NAPKON-SUEP).

2024 Scientific Article in Nature Communications Nat. Commun. 15:4259 (2024)

Devaux, Y. ; Zhang, L. ; Lumley, A.I. ; Karaduzovic-Hadziabdic, K. ; ... ; Lorenz-Depiereux, B. ; Firat, H.

Development of a long noncoding RNA-based machine learning model to predict COVID-19 in-hospital mortality.

2024 Scientific Article in Journal of Affective Disorders J. Affect. Disord. 352, 296-305 (2024)

Weiß, M.J. ; Gutzeit, J. ; Appel, K.S. ; Bahmer, T. ; ... ; Lorenz-Depiereux, B. ; Hein, G.

Depression and fatigue six months post-COVID-19 disease are associated with overlapping symptom constellations: A prospective, multi-center, population-based cohort study.

2023 Scientific Article in Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Bundesgesundheitsbl.-Gesund. 66, 114-125 (2023)

Heyder, R. ; NUKLEUS Study Group (Kraus, M.) ; NUKLEUS Study Group (Anton, G.) ; NUKLEUS Study Group (Lorenz-Depiereux, B.)

Das Netzwerk Universitätsmedizin: Technisch-organisatorische Ansätze für Forschungsdatenplattformen.

2023 Scientific Article in BMC Medical Ethics BMC Med. Ethics 24:84 (2023)

Tilch, K. ; Hopff, S.M. ; Appel, K. ; Kraus, M. ; Lorenz-Depiereux, B. ; Pilgram, L. ; Anton, G. ; ... ; Vehreschild, J.J.

Ethical and coordinative challenges in setting up a national cohort study during the COVID-19 pandemic in Germany.

2023 Scientific Article in Studies in Health Technology and Informatics Stud. Health Technol. Inform. 307, 152-158 (2023)

Yusuf, K.O. ; Chaplinskaya-Sobol, I. ; Schoneberg, A. ; Hanss, S. ; ... ; Lorenz-Depiereux, B. ; Krefting, D.

Impact of clinical study implementation on data quality assessments - using contradictions within interdependent health data items as a pilot indicator.

2023 Scientific Article in Infection - A Journal of Infectious Disease Infection 51, 1679-1694 (2023)

Shi, Y. ; Strobl, R. ; Apfelbacher, C. ; Bahmer, T. ; ... ; Lorenz-Depiereux, B. ; Grill, E.

Persistent symptoms and risk factors predicting prolonged time to symptom-free after SARS‑CoV‑2 infection: An analysis of the baseline examination of the German COVIDOM/NAPKON-POP cohort.

2023 Scientific Article in Studies in Health Technology and Informatics Stud. Health Technol. Inform. 302, 93-97 (2023)

Krefting, D. ; Anton, G. ; Chaplinskaya-Sobol, I. ; Hanss, S. ; Hoffmann, W. ; ... ; Kraus, M. ; Lorenz-Depiereux, B. ; Vehreschild, J.

The importance of being FAIR and FAST – The clinical epidemiology and study platform of the German network university medicine (NUKLEUS).

2023 Scientific Article in Infection - A Journal of Infectious Disease Infection:12 (2023)

Steinbeis, F. ; Thibeault, C. ; Steinbrecher, S. ; Ahlgrimm, Y. ; ... ; Lorenz-Depiereux, B. ; Witzenrath, M.

Analysis of acute COVID-19 including chronic morbidity: Protocol for the deep phenotyping National Pandemic Cohort Network in Germany (NAPKON-HAP).

2022 Scientific Article in Frontiers in Medicine Front. Med. 9:953643 (2022)

Günthner, R. ; Knipping, L. ; Jeruschke, S. ; Satanoskij, R. ; Lorenz-Depiereux, B. ; ... ; Hoefele, J.

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

2022 Review in European Journal of Epidemiology Eur. J. Epidemiol. 37, 849-870 (2022)

Schons, M. ; Pilgram, L. ; Reese, J.P. ; Stecher, M. ; Anton, G. ; ... ; Kraus, M. ; Kunze, S. ; Lorenz-Depiereux, B. ; Tauchert, M. ; Vehreschild, J.J.

The German National Pandemic Cohort Network (NAPKON): Rationale, study design and baseline characteristics.

2021 Scientific Article in Molecular Metabolism Mol. Metab. 54:101334 (2021)

Chhabra, N.F. ; Amend, A.-L. ; Bastidas-Ponce, A. ; Sabrautzki, S. ; Tarquis Medina, M. ; Sachs, S. ; Rubey, M. ; Lorenz-Depiereux, B. ; Feuchtinger, A. ; Bakhti, M. ; Lickert, H. ; Przemeck, G.K.H. ; Hrabě de Angelis, M.

A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes.

2021 Scientific Article in Intractable & rare diseases research Intractable Rare Dis. Res. 10, 55-57 (2021)

Dayal, D. ; Gupta, S. ; Kumar, R. ; Srinivasan, R. ; Lorenz-Depiereux, B. ; Strom, T.M.

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

2021 Scientific Article in FASEB Journal FASEB J. 35:e21302 (2021)

Daryadel, A. ; Ruiz, P.A. ; Gehring, N. ; Stojanovic, D. ; ... ; Sabrautzki, S. ; Lorenz-Depiereux, B. ; Hrabě de Angelis, M. ; Wagner, C.A. ; Rubio-Aliaga, I.

Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.

2020 Scientific Article in Nature Immunology Nat. Immunol. 21, 555-566 (2020)

Baumann, T. ; Dunkel, A. ; Schmid, C. ; Schmitt, S. ; ... ; Lorenz-Depiereux, B. ; Körber, N. ; Bauer, T. ; Eyerich, S. ; Zischka, H. ; Höchst, B.

Regulatory myeloid cells paralyze T cells through cell-cell transfer of the metabolite methylglyoxal.

2020 Scientific Article in Journal of Medical Genetics J. Med. Genet. 57, 624-633 (2020)

Krenn, M. ; Wagner, M. ; Hotzy, C. ; Graf, E. ; Weber, S. ; Brunet, T. ; Lorenz-Depiereux, B. ; Kasprian, G. ; ... ; Strom, T.M. ; Meitinger, T. ; Zimprich, F.

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

2019 Meeting abstract in Acta Physiologica Acta Physiol. 227 (2019)

Rubio-Aliaga, I. ; Daryadel, A. ; Ruiz, P.A. ; Gehring, N. ; ... ; Sabrautzki, S. ; Lorenz-Depiereux, B. ; Diener, S. ; Michalke, B. ; Strom, T.M. ; Hrabě de Angelis, M. ; Wagner, C.A.

Constitutive activation of Jak1 leads to increased fibroblast growth factor 23 levels in mice.

2019 Scientific Article in Journal of Inherited Metabolic Disease J. Inherit. Metab. Dis. 42, 909-917 (2019)

Wagner, M. ; Berutti, R. ; Lorenz-Depiereux, B. ; Graf, E. ; Eckstein, G. ; Mayr, J.A. ; Meitinger, T. ; Ahting, U. ; Prokisch, H. ; Strom, T.M. ; Wortmann, S.B.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease.

2018 Scientific Article in Kidney International Kidney Int. 94, 49-59 (2018)

Pastor-Arroyo, E.M. ; Gehring, N.H. ; Krudewig, C. ; Costantino, S. ; ... ; Sabrautzki, S. ; Lorenz-Depiereux, B. ; Strom, T.M. ; Hrabě de Angelis, M. ; Rubio-Aliaga, I.

The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk.

2016 Scientific Article in Genes Genomes Genetics G3 Genes Genomes Genetics G3 6, 4035-4046 (2016)

Fuchs, H. ; Sabrautzki, S. ; Przemeck, G.K.H. ; Leuchtenberger, S. ; Lorenz-Depiereux, B. ; Becker, L. ; Rathkolb, B. ; Horsch, M. ; Garrett, L. ; Östereicher, M.A. ; Hans, W. ; Abe, K. ; Sagawa, N. ; Rozman, J. ; Vargas Panesso, I.L. ; Sandholzer, M. ; Lisse, T.S. ; Adler, T. ; Aguilar-Pimentel, J.A. ; Calzada-Wack, J. ; Ehrhard, N. ; Elvert, R. ; Gau, C. ; Hölter, S.M. ; Micklich, K. ; Moreth, K. ; Prehn, C. ; Puk, O. ; Rácz, I. ; Stoeger, C. ; Vernaleken, A. ; Michel, D. ; Diener, S. ; Wieland, T. ; Adamski, J. ; ... ; Lengger, C. ; Maier, H. ; Neff, F. ; Stöger, T. ; Yildirim, A.Ö. ; Strom, T.M. ; Wurst, W. ; Beckers, J. ; Gailus-Durner, V. ; Hrabě de Angelis, M.

The first Scube3 mutant mouse line with pleiotropic phenotypic alterations.

2016 Scientific Article in Mammalian Genome Mamm. Genome 27, 587-598 (2016)

Sabrautzki, S. ; Sandholzer, M.A. ; Lorenz-Depiereux, B. ; Brommage, R. ; Przemeck, G.K.H. ; Vargas Panesso, I.L. ; Vernaleken, A. ; Garrett, L. ; Baron, K. ; Yildirim, A.Ö. ; Rozman, J. ; Rathkolb, B. ; Gau, C. ; Hans, W. ; Hölter, S.M. ; Marschall, S. ; Stoeger, C. ; Becker, L. ; Fuchs, H. ; Gailus-Durner, V. ; ... ; Lengger, C. ; Stefanie, L. ; Strom, T.M. ; Wurst, W. ; Hrabě de Angelis, M.

Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

2016 Scientific Article in Mammalian Genome Mamm. Genome 27, 111-121 (2016)

Diener, S. ; Bayer, S. ; Sabrautzki, S. ; Wieland, T. ; Mentrup, B. ; Przemeck, G.K.H. ; Rathkolb, B. ; Graf, E. ; Hans, W. ; Fuchs, H. ; Horsch, M. ; Schwarzmayr, T. ; Wolf, E. ; Klopocki, E. ; ... ; Strom, T.M. ; Hrabě de Angelis, M. ; Lorenz-Depiereux, B.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

2015 Scientific Article in Assay and Drug Development Technologies Assay Drug Dev. Technol. 13, 476-487 (2015)

Diener, S. ; Schorpp, K.K. ; Strom, T.M. ; Hadian, K. ; Lorenz-Depiereux, B.

Development of a cell-based assay to identify small molecule inhibitors of FGF23 signaling.

2015 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 96, 826-831 (2015)

Hadchouel, A. ; Wieland, T. ; Griese, M.E. ; Baruffini, E. ; Lorenz-Depiereux, B. ; Enaud, L. ; Graf, E. ; Dubus, J.C. ; Halioui-Louhaïchi, S. ; ... ; Eckstein, G.N. ; Schwarzmayr, T. ; Meitinger, T. ; Strom, T.M.

Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island.

2015 Scientific Article in Journal of Pediatric Endocrinology and Metabolism J. Pediatr. Endocrinol. Metab. 28, 967-970 (2015)

Steichen-Gersdorf, E. ; Lorenz-Depiereux, B. ; Strom, T.M. ; Shaw, N.J.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

2014 Scientific Article in American Journal of Medical Genetics, Part A Am. J. Med. Genet. A 164, 2931-2937 (2014)

Pekkarinen, T.A. ; Lorenz-Depiereux, B. ; Lohman, M. ; Mäkitie, O.M.

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.

2013 Scientific Article in American Journal of Pathology, The Am. J. Pathol. 183, 352-368 (2013)

Sabrautzki, S. ; Janas, E. ; Lorenz-Depiereux, B. ; Calzada-Wack, J. ; Aguilar-Pimentel, J.A. ; Rathkolb, B. ; Adler, T. ; Cohrs, C.M. ; Hans, W. ; Diener, S. ; Fuchs, H. ; Gailus-Durner, V. ; Busch, D.H. ; Höfler, H. ; Ollert, M. ; Strom, T.M. ; ... ; Neff, F. ; Hrabě de Angelis, M.

An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.

2012 Scientific Article in Mammalian Genome Mamm. Genome 23, 416-430 (2012)

Sabrautzki, S. ; Rubio-Aliaga, I. ; Hans, W. ; Fuchs, H. ; Rathkolb, B. ; Calzada-Wack, J. ; Cohrs, C.M. ; Klaften, M. ; Seedorf, H. ; Eck, S.H. ; Benet-Pagès, A. ; Favor, J. ; Esposito, I. ; Strom, T.M. ; Wolf, E. ; Lorenz-Depiereux, B. ; Hrabě de Angelis, M.

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

2011 Scientific Article in Leukemia Leukemia 25, 821-827 (2011)

Greif, P.A. ; Eck, S.H. ; Konstandin, N.P. ; Benet-Pagès, A. ; Ksienzyk, B. ; Dufour, A. ; Vetter, A.T. ; Popp, H.D. ; Lorenz-Depiereux, B. ; Meitinger, T. ; Bohlander, S.K. ; Strom, T.M.

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing.

2010 Scientific Article in Human Mutation Hum. Mutat. 31, E1851-E1860 (2010)

Horn, D. ; Kapeller, J. ; Rivera-Brugues, N. ; Moog, U. ; Lorenz-Depiereux, B. ; Eck, S.H. ; Hempel, M. ; Wagenstaller, J. ; ... ; Illig, T. ; Strom, T.M.

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

2010 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 86, 267-272 (2010)

Lorenz-Depiereux, B. ; Schnabel, D. ; Tiosano, D. ; Häusler, G. ; Strom, T.M.

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

2008 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 1, 133-40 (2008)

Rutsch, F. ; Böyer, P. ; Nitschke, Y. ; Ruf, N. ; Lorenz-Depiereux, B. ; ... ; Strom, T.M. ; Terkeltaub, R.

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

2007 Letter to the Editor in Diabetes Care Diabetes Care 30:e104 (2007)

Däublin, G. ; Lorenz-Depiereux, B. ; Strom, T.M. ; Blankenstein, O. ; Raile, K.

Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation.

2007 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 81, 768-779 (2007)

Wagenstaller, J. ; Spranger, S. ; Lorenz-Depiereux, B. ; Kazmierczak, B. ; Nathrath, M. ; ... ; Meitinger, T. ; Strom, T.M.

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

2006 Scientific Article in Nature Genetics Nat. Genet. 38, 1248-1250 (2006)

Lorenz-Depiereux, B. ; Bastepe, M. ; Benet-Pagès, A. ; Amyere, M. ; Wagenstaller, J. ; Müller-Barth, U. ; ... ; Strom, T.M.

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

2006 Scientific Article in Journal of Biological Chemistry, The J. Biol. Chem. 281, 18370-18377 (2006)

Kato, K. ; Jeanneau, C. ; Tarp, M.A. ; Benet-Pagès, A. ; Lorenz-Depiereux, B. ; Bennett, E.P. ; ... ; Strom, T.M. ; Clausen, H.

Polypeptide GaINAc-transferase T3 and familial tumoral calcinosis.

2006 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 78, 193-201 (2006)

Lorenz-Depiereux, B. ; Benet-Pagès, A. ; Eckstein, G. ; Tenenbaum-Rakover, Y. ; Wagenstaller, J. ; Tiosano, D. ; Gershoni-Baruch, R. ; ... ; Lichtner, P. ; Hochberg, Z.

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

2005 Scientific Article in Lancet, The Lancet 366, 371-377 (2005)

Dichgans, M. ; Freilinger, T. ; Eckstein, G. ; Babini, E. ; Lorenz-Depiereux, B. ; Biskup, S. ; Ferrari, M.D. ; ... ; Strom, T.M.

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting.

2000 Scientific Article in Nature Genetics Nat. Genet. 26, 345-358 (2000)

ADHR Consortium (Lorenz-Depiereux, B. ; Grabowski, M. ; Meitinger, T. ; Strom, T.M.)

Publications from Dr. Bettina Lorenz-Depiereux