The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylglutaryl coenzyme A synthase 2 (HMGCS2), encoding a met...
Main Authors: | Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2020-01-01
|
Series: | PLoS ONE |
Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0227411&type=printable |
Similar Items
-
A Novel <i>WT1</i> Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9
by: Dmytro Sirokha, et al.
Published: (2021-11-01) -
Regulation of Ketogenic Enzyme HMGCS2 by Wnt/β-catenin/PPARγ Pathway in Intestinal Cells
by: Ji Tae Kim, et al.
Published: (2019-09-01) -
HMGCS2 is a key ketogenic enzyme potentially involved in type 1 diabetes with high cardiovascular risk
by: Sanket Kumar Shukla, et al.
Published: (2017-07-01) -
COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors
by: Lucas G. A. Ferreira, et al.
Published: (2024-01-01) -
Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias
by: Nurin A. Listyasari, et al.
Published: (2022-04-01)