Article
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
The Journal of clinical endocrinology and metabolism - 16 Jun 2023
Magnotto John C, Mancini Alessandra, Bird Keisha, Montenegro Luciana, Tütüncüler Filiz, Pereira Sidney A, Simas Vitoria, Garcia Leonardo, Roberts Stephanie A, Macedo Delanie, Magnuson Melissa, Gagliardi Priscila, Mauras Nelly, Witchel Selma F, Carroll Rona S, Latronico Ana Claudia, Kaiser Ursula B, Abreu Ana Paula
Abstract excerpt
CONTEXT: Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations in MKRN3 are the most common known genetic etiology of CPP. OBJECTIVE: This work aimed to screen patients with CPP for MKRN3 and DLK1 mutations and analyze the effects of identified mutations on protein function in vitro. METHODS: Participants included 84 unrelated...
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