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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: wilhelm d. 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.
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D. Bagheri-Fam S, et al. Among authors: wilhelm d. PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020. PLoS One. 2020. PMID: 31910233 Free PMC article.
Loss of NEDD4 causes complete XY gonadal sex reversal in mice.
Windley SP, Mayère C, McGovern AE, Harvey NL, Nef S, Schwarz Q, Kumar S, Wilhelm D. Windley SP, et al. Among authors: wilhelm d. Cell Death Dis. 2022 Jan 24;13(1):75. doi: 10.1038/s41419-022-04519-z. Cell Death Dis. 2022. PMID: 35075134 Free PMC article.
Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad.
Mayère C, Regard V, Perea-Gomez A, Bunce C, Neirijnck Y, Djari C, Bellido-Carreras N, Sararols P, Reeves R, Greenaway S, Simon M, Siggers P, Condrea D, Kühne F, Gantar I, Tang F, Stévant I, Batti L, Ghyselinck NB, Wilhelm D, Greenfield A, Capel B, Chaboissier MC, Nef S. Mayère C, et al. Among authors: wilhelm d. Sci Adv. 2022 May 27;8(21):eabm0972. doi: 10.1126/sciadv.abm0972. Epub 2022 May 25. Sci Adv. 2022. PMID: 35613264 Free PMC article.
Mammalian sex determination and gonad development.
Wilhelm D, Yang JX, Thomas P. Wilhelm D, et al. Curr Top Dev Biol. 2013;106:89-121. doi: 10.1016/B978-0-12-416021-7.00003-1. Curr Top Dev Biol. 2013. PMID: 24290348 Review.
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: wilhelm d. 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.
407 results