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ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):1368013688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

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ey0021.6-1 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.1. The -KTS splice variant of WT1 is essential for ovarian determination in mice

EP Gregoire , MC De Cian , R Migale , A Perea-Gomez , S Schaub , N Bellido-Carreras , I Stevant , C Mayere , Y Neirijnck , A Loubat , P Rivaud , ML Sopena , S Lachambre , MM Linssen , P Hohenstein , R Lovell-Badge , S Nef , F Chalmel , A Schedl , MC Chaboissier

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...

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ESPE Yearbook of Paediatric Endocrinology

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

6.1. The -KTS splice variant of WT1 is essential for ovarian determination in mice

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