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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: bernard p. 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.
Marker genes identify three somatic cell types in the fetal mouse ovary.
Rastetter RH, Bernard P, Palmer JS, Chassot AA, Chen H, Western PS, Ramsay RG, Chaboissier MC, Wilhelm D. Rastetter RH, et al. Among authors: bernard p. Dev Biol. 2014 Oct 15;394(2):242-52. doi: 10.1016/j.ydbio.2014.08.013. Epub 2014 Aug 23. Dev Biol. 2014. PMID: 25158167 Free article.
Loss of Fgfr2 leads to partial XY sex reversal.
Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR. Bagheri-Fam S, et al. Among authors: bernard p. Dev Biol. 2008 Feb 1;314(1):71-83. doi: 10.1016/j.ydbio.2007.11.010. Epub 2007 Nov 19. Dev Biol. 2008. PMID: 18155190 Free article.
The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice.
Bradford ST, Hiramatsu R, Maddugoda MP, Bernard P, Chaboissier MC, Sinclair A, Schedl A, Harley V, Kanai Y, Koopman P, Wilhelm D. Bradford ST, et al. Among authors: bernard p. Biol Reprod. 2009 Jun;80(6):1178-88. doi: 10.1095/biolreprod.108.071480. Epub 2009 Feb 11. Biol Reprod. 2009. PMID: 19211811 Free PMC article.
1,862 results