Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of clinical endocrinology and metabolism - 1 Nov 2009

Pantel Jacques, Legendre Marie, Nivot Sylvie, Morisset Séverine, Vie-Luton Marie-Pierre, le Bouc Yves, Epelbaum Jacques, Amselem Serge

Abstract excerpt

CONTEXT: Both GH releasing- and orexigenic properties of the gut-to-brain hormone ghrelin are mediated by the GH secretagogue receptor (GHSR). Recently in several patients, a missense mutation (p.A204E) resulting in a complete loss of GHSR constitutive activity has been implicated in short stature with dominant transmission. OBJECTIVE: The objective of the study was to describe the phenotype associated with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Birth Weight
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Human Growth Hormone

Share to Nuclear Family

Share to Receptors, Ghrelin

Share to Reference Values

Share to Siblings

Source

Identifiers

PMID: 19789204
DOI: 10.1210/jc.2009-1327

Genes

GHSR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.PMID 19789204Read ↗

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-ISemantic proximity Read ↗

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and pubertySemantic proximity Read ↗

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.Semantic proximity Read ↗

Isolated GH deficiency with dominant inheritance: new mutations, new insights.Semantic proximity Read ↗

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short statureSemantic proximity Read ↗

Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.Semantic proximity Read ↗

Ghrelin Receptor Mutations and Human Obesity.Semantic proximity Read ↗

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsSemantic proximity Read ↗

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

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.Semantic proximity Read ↗

Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IBSemantic proximity Read ↗

Molecular and clinical aspects of GHRH receptor mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.