Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.A204E
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GHSR

NM_198407.2:p.A204E

Associated Papers

MRAP2 potentiates GPCR signaling by conserved mechanisms that are disrupted by obesity-associated genetic variants.

Jamaluddin A et al.

Cell Reports, 2026

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Aouchiche K et al.

European Journal of Pediatrics, 2025

MRAP2 potentiates GPCR signaling by conserved mechanisms that are disrupted by obesity-associated genetic variants.

Jamaluddin A et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report.

Laaraje A et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 2025

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

Gross JD et al.

Trends in Endocrinology and Metabolism: Tem, 2023

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

Andrade NLM et al.

Endocrine Connections, 2022

Binding Domain Characterization of Growth Hormone Secretagogue Receptor.

Sun Y et al.

Journal of Translational Internal Medicine, 2022

Genetic deletion of the ghrelin receptor (GHSR) impairs growth and blunts endocrine response to fasting in Ghsr-IRES-Cre mice.

Peris-Sampedro F et al.

Molecular Metabolism, 2021

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

Wang Y et al.

Nature Communications, 2021

Allosteric modulation of ghrelin receptor signaling by lipids.

Damian M 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

Metabolic insights from a GHSR-A203E mutant mouse model.

Torz LJ et al.

Molecular Metabolism, 2020

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

30926952 (PubMed )
Supplement: 41366_2019_357_MOESM5_ESM.xlsx › Suppl_1_EOO_RSVs

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Growth hormone secretagogue receptor constitutive activity impairs voltage-gated calcium channel-dependent inhibitory neurotransmission in hippocampal neurons.

Martínez Damonte V et al.

The Journal of Physiology, 2018

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Dworschak GC et al.

Clinical Genetics, 2017

Molecular genetics of human obesity: A comprehensive review.

Singh RK et al.

Comptes Rendus Biologies, 2017

Ghrelin and Growth.

Perchard R et al.

Endocrine Development, 2017

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N et al.

Clinical Endocrinology, 2015

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

Yin Y et al.

International Journal of Molecular Sciences, 2014

GHS-R1a constitutive activity and its physiological relevance.

Mear Y et al.

Frontiers in Neuroscience, 2013

Modulation of constitutive activity and signaling bias of the ghrelin receptor by conformational constraint in the second extracellular loop.

Mokrosiński J et al.

The Journal of Biological Chemistry, 2012

The roles played by highly truncated splice variants of G protein-coupled receptors.

Wise H

Journal of Molecular Signaling, 2012

GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood.

Riedl S et al.

European Journal of Endocrinology, 2012

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

G protein-coupled receptors: mutations and endocrine diseases.

Vassart G et al.

Nature Reviews. Endocrinology, 2011

Ghrelin plasma levels in patients with idiopathic short stature.

Iñiguez G et al.

Hormone Research in Paediatrics, 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

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Alatzoglou KS et al.

Nature Reviews. Endocrinology, 2010

Nucleotide polymorphisms and the 5'-UTR transcriptional analysis of the bovine growth hormone secretagogue receptor 1a (GHSR1a) gene.

Komatsu M et al.

Animal Science Journal = Nihon Chikusan Gakkaiho, 2010

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

Fang M et al.

Molecular Biology Reports, 2010

Associations of polymorphism within the GHSR gene with growth traits in Nanyang cattle.

Zhang B et al.

Molecular Biology Reports, 2009

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

Pantel J et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Polymorphisms of the ghrelin/obestatin gene and ghrelin levels in Chinese children with short stature.

Zou CC et al.

Clinical Endocrinology, 2008

Importance of constitutive activity and arrestin-independent mechanisms for intracellular trafficking of the ghrelin receptor.

Holliday ND et al.

Molecular Endocrinology (baltimore, Md.), 2007

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

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

Pantel J et al.

The Journal of Clinical Investigation, 2006

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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."