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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: zenker m. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Germline KRAS mutations cause Noonan syndrome.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Schubbert S, et al. Among authors: zenker m. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Nat Genet. 2006. PMID: 16474405
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. Hasselbacher K, et al. Among authors: zenker m. Kidney Int. 2006 Sep;70(6):1008-12. doi: 10.1038/sj.ki.5001679. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912710 Free article.
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group. Hinkes BG, et al. Among authors: zenker m. Pediatrics. 2007 Apr;119(4):e907-19. doi: 10.1542/peds.2006-2164. Epub 2007 Mar 19. Pediatrics. 2007. PMID: 17371932
A milder variant of Pierson syndrome.
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. Kagan M, et al. Among authors: zenker m. Pediatr Nephrol. 2008 Feb;23(2):323-7. doi: 10.1007/s00467-007-0624-x. Epub 2007 Oct 18. Pediatr Nephrol. 2008. PMID: 17943323
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. Gbadegesin R, et al. Among authors: zenker m. Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065803
Variable phenotype of Pierson syndrome.
Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Choi HJ, et al. Among authors: zenker m. Pediatr Nephrol. 2008 Jun;23(6):995-1000. doi: 10.1007/s00467-008-0748-7. Pediatr Nephrol. 2008. PMID: 18278520
383 results