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A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R. Meindl K, et al. Among authors: othmen h. Front Cell Dev Biol. 2023 Oct 12;11:1240558. doi: 10.3389/fcell.2023.1240558. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37900275 Free PMC article.
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry.
Heinl ES, Lorenz S, Schmidt B, Nasser M Laqtom N, Mazzulli JR, Francelle L, Yu TW, Greenberg B, Storch S, Tegtmeier I, Othmen H, Maurer K, Steinfurth M, Witzgall R, Milenkovic V, Wetzel CH, Reichold M. Heinl ES, et al. Among authors: othmen h. iScience. 2022 Oct 21;25(10):105082. doi: 10.1016/j.isci.2022.105082. Epub 2022 Sep 6. iScience. 2022. PMID: 36093380 Free PMC article.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. Issler N, et al. Among authors: othmen h. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. J Am Soc Nephrol. 2022. PMID: 35149593 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: othmen h. 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.