POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism

POU Class 1 Homeobox1 (POU1F1/Pou1f1) is a well-established pituitary-specific transcription factor, and causes, when mutated, combined pituitary hormone deficiency in humans and mice. POU1F1/Pou1f1 has 2 isoforms: the alpha and beta isoforms. Recently, pathogenic variants in the unique coding regio...

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Detalles Bibliográficos
Autores principales: Akiba, Kazuhisa, Hasegawa, Yukihiro, Katoh-Fukui, Yuko, Terao, Miho, Takada, Shuji, Hasegawa, Tomonobu, Fukami, Maki, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795478/
https://www.ncbi.nlm.nih.gov/pubmed/36427334
http://dx.doi.org/10.1210/endocr/bqac198

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