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 […]
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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 […]
2020Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene., Proc. Natl. Acad. Sci. U.S.A. 2020 Jun; 117(24): 13680-13688.
2019Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome, Genet. Med. 2019 Jul;.
2019The TALE homeodomain of PBX1 is involved in human primary testis-determination, Hum. Mutat. 2019 May;.
2018GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’, Eur. J. Endocrinol. 2018 10;179(4):R197-R206.
2018Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer, Hum. Mutat. 2018 Dec;39(12):1861-1874.
2018ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
2018Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies, Hum. Mol. Genet. 2018 04;27(7):1228-1240.
2018Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children., Am J Hum Genet. 2018 Mar 1;102(3):487-493.
2017A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD, Sex Dev 2017;11(5-6):269-274.
2017Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2017 07;102(7):2401-2406.
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