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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: warth r. 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.
Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism.
Rege J, Bandulik S, Nanba K, Kosmann C, Blinder AR, Plain A, Vats P, Kumar-Sinha C, Lerario AM, Else T, Yamazaki Y, Satoh F, Sasano H, Giordano TJ, Williams TA, Reincke M, Turcu AF, Udager AM, Warth R, Rainey WE. Rege J, et al. Among authors: warth r. Nat Genet. 2023 Oct;55(10):1623-1631. doi: 10.1038/s41588-023-01498-5. Epub 2023 Sep 14. Nat Genet. 2023. PMID: 37709865
Somatic Mutations in MCOLN3 in Aldosterone-Producing Adenomas cause Primary Aldosteronism.
van Rooyen D, Bandulik S, Coon G, Laukemper M, Kumar-Sinha C, Udager AM, Lee C, Wachtel H, Cohen DL, Luther JM, Giordano T, Turcu A, Warth R, Rainey WE, Rege J. van Rooyen D, et al. Among authors: warth r. bioRxiv [Preprint]. 2024 Oct 23:2024.10.20.619295. doi: 10.1101/2024.10.20.619295. bioRxiv. 2024. PMID: 39484451 Free PMC article. Preprint.
192 results