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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: stevant i. 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.
Insulin and IGF1 receptors are essential for the development and steroidogenic function of adult Leydig cells.
Neirijnck Y, Calvel P, Kilcoyne KR, Kühne F, Stévant I, Griffeth RJ, Pitetti JL, Andric SA, Hu MC, Pralong F, Smith LB, Nef S. Neirijnck Y, et al. Among authors: stevant i. FASEB J. 2018 Jun;32(6):3321-3335. doi: 10.1096/fj.201700769RR. Epub 2018 Jan 24. FASEB J. 2018. PMID: 29401624
However, the precise role and contribution of the membrane receptors mediating those effects, namely, insulin receptor (INSR) and type-I insulin-like growth factor receptor (IGF1R), have not, to our knowledge, been investigated. ...-Neirijnck, Y., Calvel, P., Kilcoyne, K. …
However, the precise role and contribution of the membrane receptors mediating those effects, namely, insulin receptor (INSR) and type-I …
A brief history of sex determination.
Stévant I, Papaioannou MD, Nef S. Stévant I, et al. Mol Cell Endocrinol. 2018 Jun 15;468:3-10. doi: 10.1016/j.mce.2018.04.004. Epub 2018 Apr 7. Mol Cell Endocrinol. 2018. PMID: 29635012 Review.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A. Harris A, et al. Among authors: stevant i. Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. doi: 10.1073/pnas.1801223115. Epub 2018 May 7. Proc Natl Acad Sci U S A. 2018. PMID: 29735715 Free PMC article.
30 results