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PubMed (OMIM) for id: 8468
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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Am J Hum Genet. 2022 Oct 6;109(10):1850-1866. doi: 10.1016/j.ajhg.2022.09.002. Epub 2022 Sep 22.
Am J Hum Genet. 2022.
PMID: 36150389
Free PMC article.
Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
Miyamato T, Sato H, Yogev L, Kleiman S, Namiki M, Koh E, Sakugawa N, Hayashi H, Ishikawa M, Lamb DJ, Sengoku K.
Miyamato T, et al.
Cell Mol Biol Lett. 2006;11(4):557-69. doi: 10.2478/s11658-006-0043-1. Epub 2006 Sep 14.
Cell Mol Biol Lett. 2006.
PMID: 16983454
Free PMC article.
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Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M.
Metcalfe K, et al.
Clin Dysmorphol. 2005 Apr;14(2):61-65.
Clin Dysmorphol. 2005.
PMID: 15770126
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Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.
Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, Wada T, Kunieda T, Moens PB, Penninger JM.
Crackower MA, et al.
Science. 2003 May 23;300(5623):1291-5. doi: 10.1126/science.1083022.
Science. 2003.
PMID: 12764197
Free PMC article.
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A novel human gene FKBP6 is deleted in Williams syndrome.
Meng X, Lu X, Morris CA, Keating MT.
Meng X, et al.
Genomics. 1998 Sep 1;52(2):130-7. doi: 10.1006/geno.1998.5412.
Genomics. 1998.
PMID: 9782077
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