Article

A RNF12-USP26 amplification loop promotes germ cell specification and is disrupted in urogenital disorders

2020-11-16

Abstract excerpt

<h4>Summary</h4> Ubiquitylation regulates all aspects of development, and components are frequently mutated in developmental disorders. Tonne-Kalscheuer Syndrome (TOKAS) is a X-linked multiple congenital anomaly disorder caused by mutations in the E3 ubiquitin ligase RNF12/RLIM and characterized by intellectual disability and urogenital abnormalities. However, the molecular underpinnings of TOKAS remain largely u...

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Literature Corpus work: fcbc20b6-916c-5579-8b5b-dd85665a9c82
DOI: 10.1101/2020.11.16.378398

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