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MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch B, Bartram MP, Dafinger C, Palacio-Escat N, Wenzel A, Fenton RA, Saez-Rodriguez J, Schermer B, Benzing T, Altmüller J, Beck BB, Rinschen MM. Reusch B, et al. Among authors: altmuller j. J Proteomics. 2022 Feb 10;252:104424. doi: 10.1016/j.jprot.2021.104424. Epub 2021 Nov 12. J Proteomics. 2022. PMID: 34775100
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: altmuller j. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: altmuller j. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M. Schlingmann KP, et al. Among authors: altmuller j. Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004. Am J Hum Genet. 2018. PMID: 30388404 Free PMC article.
The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury.
Johnsen M, Kubacki T, Yeroslaviz A, Späth MR, Mörsdorf J, Göbel H, Bohl K, Ignarski M, Meharg C, Habermann B, Altmüller J, Beyer A, Benzing T, Schermer B, Burst V, Müller RU. Johnsen M, et al. Among authors: altmuller j. J Am Soc Nephrol. 2020 Apr;31(4):716-730. doi: 10.1681/ASN.2019050534. Epub 2020 Feb 28. J Am Soc Nephrol. 2020. PMID: 32111728 Free PMC article.
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger F, Nörling D, Borchert D, Leenen E, Habbig S, Wiesener MS, Bartram MP, Wenzel A, Becker C, Toliat MR, Nürnberg P, Beck BB, Altmüller J. Erger F, et al. Among authors: altmuller j. Genome Med. 2020 Jun 24;12(1):54. doi: 10.1186/s13073-020-00750-5. Genome Med. 2020. PMID: 32580754 Free PMC article.
CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease.
Talyan S, Filipów S, Ignarski M, Smieszek M, Chen H, Kühne L, Butt L, Göbel H, Hoyer-Allo KJR, Koehler FC, Altmüller J, Brinkkötter P, Schermer B, Benzing T, Kann M, Müller RU, Dieterich C. Talyan S, et al. Among authors: altmuller j. Cells. 2021 Mar 20;10(3):692. doi: 10.3390/cells10030692. Cells. 2021. PMID: 33804736 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: altmuller j. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
361 results