POU1F1/Pou1f1 c.14383A G Variant Disrupts the Branh Site in Pre-mRNA and Leads to Dwarfsm

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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Veröffentlicht in:	Endocrinology (Philadelphia) 2023-02, Vol.164 (2), p.1
Hauptverfasser:	Akiba, Kazuhisa, Hasegawa, Yukihiro, Katoh-Fukui, Yuko, Terao, Miho, Takada, Shuji, Hasegawa, Tomonobu, Fukami, Maki, Narumi, Satoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Enzyme-linked immunosorbent assay Genetic engineering Genetically modified organisms Messenger RNA Neuropeptides Pituitary hormones Thyroxine
Online-Zugang:	Volltext
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