Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature

• Published in: The journal of clinical endocrinology and metabolism Vol. 96; no. 2; pp. E373 - E378
• Main Authors: Inoue, Hiroshi, Kangawa, Natsumi, Kinouchi, Atsuko, Sakamoto, Yukiko, Kimura, Chizuko, Horikawa, Reiko, Shigematsu, Yosuke, Itakura, Mitsuo, Ogata, Tsutomu, Fujieda, Kenji
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 01.02.2011
• Subjects: Blotting, Western; Body height; Body Height - genetics; Body Height - physiology; Cohort Studies; DNA Mutational Analysis; DNA, Complementary - biosynthesis; DNA, Complementary - genetics; Dwarfism - genetics; Enzyme-Linked Immunosorbent Assay; Etiology; Ghrelin; Ghrelin - metabolism; Growth Disorders - genetics; Growth hormone; Growth hormones; Humans; Intracellular signalling; Inverse agonists; Japan; Molecular modelling; Mutation; Mutation - genetics; Mutation - physiology; Point mutation; Population genetics; Receptor mechanisms; Receptors, Ghrelin - genetics; Reverse Transcriptase Polymerase Chain Reaction; Signal Transduction - genetics; Subcellular Fractions - metabolism; Transfection; Japan

Context:Short stature (SS) is a multifactorial developmental condition with a significant genetic component. Recent studies have revealed that rare deleterious mutations in the GH-secretagogue receptor type 1A (GHSR1A) gene could be a cause of familial SS or GH deficiency.Objective:The aim of this s...