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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Frank V, et al. Among authors: bergmann c. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418306
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: bergmann c. 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.
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H. Bergmann C, et al. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371931 Free PMC article.
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.
Rinschen MM, Gödel M, Grahammer F, Zschiedrich S, Helmstädter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Küttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Krüger M, Hildebrandt F, Dengjel J, Benzing T, Huber TB. Rinschen MM, et al. Among authors: bergmann c. Cell Rep. 2018 May 22;23(8):2495-2508. doi: 10.1016/j.celrep.2018.04.059. Cell Rep. 2018. PMID: 29791858 Free PMC article.
Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier.
Koehler S, Odenthal J, Ludwig V, Unnersjö Jess D, Höhne M, Jüngst C, Grawe F, Helmstädter M, Janku JL, Bergmann C, Hoyer PF, Hagmann HH, Walz G, Bloch W, Niessen C, Schermer B, Wodarz A, Denholm B, Benzing T, Iden S, Brinkkoetter PT. Koehler S, et al. Among authors: bergmann c. Kidney Int. 2022 Apr;101(4):733-751. doi: 10.1016/j.kint.2021.11.030. Epub 2021 Dec 17. Kidney Int. 2022. PMID: 34929254
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.
Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. Among authors: bergmann c. JAMA Pediatr. 2018 Jan 1;172(1):74-86. doi: 10.1001/jamapediatrics.2017.3938. JAMA Pediatr. 2018. PMID: 29181500
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Among authors: bergmann c. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 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: bergmann c. 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.
743 results