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

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

7 Jun 2011

Abstract excerpt

BACKGROUND: A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients. SUBJECTS AND METHODS: The GHSR coding region was directly sequenced in 96 independent patients with ISS, 31 of them with...

Read the complete abstract on PubMed

Topics

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

Share to Growth Hormone and Insulin-like Growth Factors
Share to Hypothalamic control of reproductive hormones
Share to Regulation of Appetite and Obesity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21646290
DOI: 10.1530/eje-11-0168

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and pubertyPMID 21646290Read ↗

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

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

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

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.Semantic proximity Read ↗

GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood.Semantic proximity Read ↗

Four missense mutations in the ghrelin receptor result in distinct pharmacological abnormalities.Semantic proximity Read ↗

Ghrelin Receptor Mutations and Human Obesity.Semantic proximity Read ↗

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

Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.Semantic proximity Read ↗

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.Semantic proximity Read ↗

Ghrelin receptor gene polymorphisms and body size in children and adults.Semantic proximity Read ↗

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