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Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Schneider S, Schierbaum L, Burger WAC, Seltzsam S, Wang C, Zheng B, Wu CW, Nakayama M, Connaughton DM, Mann N, Shalaby MA, Kari JA, ElDesoky S, Tasic V, Eid LA, Shril S, Thal DM, Hildebrandt F. Schneider S, et al. Among authors: shalaby ma. Am J Med Genet A. 2023 Aug;191(8):2083-2091. doi: 10.1002/ajmg.a.63241. Epub 2023 May 22. Am J Med Genet A. 2023. PMID: 37213061
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, Sharma V, Rubin A, Ball D, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Sun L, Guerrero-Castillo S; Nephrotic Syndrome Study Network (NEPTUNE); Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby M, Kari J, Fawcett JP, Hildebrandt F, Majmundar AJ. Buerger F, et al. Among authors: shalaby m. medRxiv [Preprint]. 2024 Mar 21:2024.03.17.24303374. doi: 10.1101/2024.03.17.24303374. medRxiv. 2024. PMID: 38562757 Free PMC article. Preprint.
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Klämbt V, Werth M, Onuchic-Whitford AC, Getwan M, Kitzler TM, Buerger F, Mao Y, Deutsch K, Mann N, Majmundar AJ, Kaminski MM, Shen T, Schmidt-Ott KM, Shalaby M, El Desoky S, Kari JA, Shril S, Lienkamp SS, Barasch J, Hildebrandt F. Klämbt V, et al. Among authors: shalaby m. Nephrol Dial Transplant. 2021 Jan 25;36(2):237-246. doi: 10.1093/ndt/gfaa215. Nephrol Dial Transplant. 2021. PMID: 33097957 Free PMC article.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F. Mann N, et al. Among authors: shalaby m. Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. doi: 10.1016/j.ajhg.2019.10.004. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708116 Free PMC article.
517 results