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Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN. Grassmann F, et al. Among authors: schmied d. J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0. J Neuroinflammation. 2016. PMID: 27090374 Free PMC article.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.
Grosch M, Brunner K, Ilyaskin AV, Schober M, Staudner T, Schmied D, Stumpp T, Schmidt KN, Madej MG, Pessoa TD, Othmen H, Kubitza M, Osten L, de Vries U, Mair MM, Somlo S, Moser M, Kunzelmann K, Ziegler C, Haerteis S, Korbmacher C, Witzgall R. Grosch M, et al. Among authors: schmied d. J Cell Sci. 2021 Aug 15;134(16):jcs259013. doi: 10.1242/jcs.259013. Epub 2021 Aug 23. J Cell Sci. 2021. PMID: 34345895 Free PMC article.