Mammalian SD is a balance of mutually antagonistic pathways
Our data on the role of nuclear receptors in human ovarian development and the repression of WNT signaling during mammalian testis formation suggests the main function of pro-testis genes may be to antagonize pro-ovary […]
Control of expression of the human testis-determining gene SRY.
Cell fate decisions requiring appropriate transcriptional regulation key genes. SRY is pivotal in mammalian SD but how the expression of SRY is regulated in mammals is unknown. We identified a family from central India […]
Cellular reprogramming to understand human sex-determination.
A major gap in the field is the lack of appropriate cellular models to study human SD. This is particularly pressing since we are identifying differences between the human and mouse SD systems. We […]
Protected: Pasteur Human Genome
There is no excerpt because this is a protected post.
Identification of key components of the human sex-determination pathway. The DSD exome/genome project.
Disorders/differences in Sex Development (DSD) are defined as congenital conditions with discordant development of chromosomal and gonadal/anatomical sex and cover a wide range of phenotypes that involve the endocrine and reproductive systems. In the […]
The role of the ribosome biogenesis factor DHX37 in vertebrate sex-determination.
The identification of variants in DHX37 as a cause of 46,XY DSD opens up the possibility that some forms of human sex-reversal are ribosomopathies. Pathogenic variants associated with a lack of testis-determination or, the […]
2023In vitro cellular reprogramming to model gonad development and its disorders., Sci Adv 2023 Jan; 9(1): eabn9793.
2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
2021Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
2021Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
2021Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
2015An ancient protein-DNA interaction underlying metazoan sex determination, Nat. Struct. Mol. Biol. 2015 Jun;22(6):442-51.
2015Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis, Fertil. Steril. 2015 May;103(5):1297-304.
2014Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy, Nat. Genet. 2014 Dec;46(12):1283-92.
2014Consanguinity and disorders of sex development, Hum. Hered. 2014;77(1-4):108-17.
2014Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination, Hum. Mol. Genet. 2014 Jul;23(14):3657-65.
+Voir la liste complète de publications