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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S. Callier P, et al. Among authors: nef s. PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May. PLoS Genet. 2014. PMID: 24784881 Free PMC article.
Sertoli cell Dicer is essential for spermatogenesis in mice.
Papaioannou MD, Pitetti JL, Ro S, Park C, Aubry F, Schaad O, Vejnar CE, Kühne F, Descombes P, Zdobnov EM, McManus MT, Guillou F, Harfe BD, Yan W, Jégou B, Nef S. Papaioannou MD, et al. Among authors: nef s. Dev Biol. 2009 Feb 1;326(1):250-9. doi: 10.1016/j.ydbio.2008.11.011. Epub 2008 Nov 28. Dev Biol. 2009. PMID: 19071104 Free PMC article.
Dcp1-bodies in mouse oocytes.
Swetloff A, Conne B, Huarte J, Pitetti JL, Nef S, Vassalli JD. Swetloff A, et al. Among authors: nef s. Mol Biol Cell. 2009 Dec;20(23):4951-61. doi: 10.1091/mbc.e09-02-0123. Epub 2009 Oct 7. Mol Biol Cell. 2009. PMID: 19812249 Free PMC article.
Soy, phyto-oestrogens and male reproductive function: a review.
Cederroth CR, Auger J, Zimmermann C, Eustache F, Nef S. Cederroth CR, et al. Among authors: nef s. Int J Androl. 2010 Apr;33(2):304-16. doi: 10.1111/j.1365-2605.2009.01011.x. Epub 2009 Nov 16. Int J Androl. 2010. PMID: 19919579 Review.
Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice.
Papaioannou MD, Lagarrigue M, Vejnar CE, Rolland AD, Kühne F, Aubry F, Schaad O, Fort A, Descombes P, Neerman-Arbez M, Guillou F, Zdobnov EM, Pineau C, Nef S. Papaioannou MD, et al. Among authors: nef s. Mol Cell Proteomics. 2011 Apr;10(4):M900587MCP200. doi: 10.1074/mcp.M900587-MCP200. Epub 2010 May 13. Mol Cell Proteomics. 2011. PMID: 20467044 Free PMC article.
Beta- and gamma-cytoplasmic actins are required for meiosis in mouse oocytes.
Brockmann C, Huarte J, Dugina V, Challet L, Rey E, Conne B, Swetloff A, Nef S, Chaponnier C, Vassalli JD. Brockmann C, et al. Among authors: nef s. Biol Reprod. 2011 Nov;85(5):1025-39. doi: 10.1095/biolreprod.111.091736. Epub 2011 Jul 20. Biol Reprod. 2011. PMID: 21778137
146 results