کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2811026 1158509 2007 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Defects in growth hormone receptor signaling
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
پیش نمایش صفحه اول مقاله
Defects in growth hormone receptor signaling
چکیده انگلیسی

Severe growth failure and insulin-like growth factor (IGF) deficiency were first reported 40 years ago in patients who ultimately proved to have mutations in the gene encoding the growth hormone receptor (GHR). So far, over 250 similar patients, encompassing more than 60 different mutations of GHR, have been reported. The GHR is a member of the cytokine receptor superfamily and has been shown to signal, at least in part, through the Janus-family tyrosine kinase–signal transducer and activator of transcription (JAK–STAT) pathway. Six patients, from five distinct families, have been reported to have phenotypes similar to that of patients with GHR defects but with wild-type receptors and homozygosity for five different mutations of the STAT5b gene. These patients define a new cause of GH insensitivity and primary IGF deficiency and confirm the crucial role of STAT5b in GH-mediated IGF-I gene transcription.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 18, Issue 4, May–June 2007, Pages 134–141
نویسندگان
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