MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

Signal transducer and activator of transcription 5b (STAT5b) has been identified as a key downstream mediator of GH signaling in somatic growth. Autosomic recessive human mutations in STAT5B lead to severe growth retardation associated to immune dysregulation. On the other hand, some heterozygous ST...

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Détails bibliographiques
Publié dans:J Endocr Soc
Auteurs principaux: Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Genetics and Development (including Gene Regulation)
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208618/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.324
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