Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.F279L
Back to variants list

GHSR

NM_198407.2:p.F279L

Associated Papers

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Punt LD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

The structure and function of the ghrelin receptor coding for drug actions.

Shiimura Y et al.

Nature Structural & Molecular Biology, 2025

Ghrelin receptor signaling in health and disease: a biased view.

Gross JD et al.

Trends in Endocrinology and Metabolism: Tem, 2023

Binding Domain Characterization of Growth Hormone Secretagogue Receptor.

Sun Y et al.

Journal of Translational Internal Medicine, 2022

Molecular recognition of an acyl-peptide hormone and activation of ghrelin receptor.

Wang Y et al.

Nature Communications, 2021

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

Wit JM et al.

Hormone Research in Paediatrics, 2021

Molecular genetics of human obesity: A comprehensive review.

Singh RK et al.

Comptes Rendus Biologies, 2017

The growth hormone secretagogue receptor: its intracellular signaling and regulation.

Yin Y et al.

International Journal of Molecular Sciences, 2014

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population.

Hess O et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Spectrum of insulin-like growth factor deficiency.

Wit JM et al.

Endocrine Development, 2012

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

Pugliese-Pires PN et al.

European Journal of Endocrinology, 2011

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

Inoue H et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.

Gjesing AP et al.

Plos One, 2010

Associations of GHSR gene polymorphisms with chicken growth and carcass traits.

Fang M et al.

Molecular Biology Reports, 2010

Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity.

Gueorguiev M et al.

Obesity (silver Spring, Md.), 2009

A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature.

Gueorguiev M et al.

Annals of Human Genetics, 2009

Genomic location of the bovine growth hormone secretagogue receptor (GHSR) gene and investigation of genetic polymorphism.

Colinet FG et al.

Animal Biotechnology, 2009

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Four missense mutations in the ghrelin receptor result in distinct pharmacological abnormalities.

Liu G et al.

The Journal of Pharmacology and Experimental Therapeutics, 2007

The truncated ghrelin receptor polypeptide (GHS-R1b) acts as a dominant-negative mutant of the ghrelin receptor.

Leung PK et al.

Cellular Signalling, 2007

Ghrelin receptor mutations--too little height and too much hunger.

Holst B et al.

The Journal of Clinical Investigation, 2006

Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature.

Wang HJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."