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

Molecular and clinical aspects of GHRH receptor mutations.

Endocrine development - 1 Jan 2013

Corazzini Valentina, Salvatori Roberto

Abstract excerpt

The growth hormone (GH)-releasing hormone (GHRH) receptor (GHRHR) belongs to the G protein-coupled receptor family. It binds GHRH resulting in somatotroph cell proliferation and stimulation of GH secretion. Mutations in the gene encoding for GHRHR (GHRHR, OMIM No. 139191) are being reported with increasing frequency in familial isolated GH deficiency. To date, the reported GHRHR mutations include eight missense,...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism, Pituitary
Share to Heterozygote
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Human Growth Hormone

Share to Models, Biological

Share to Phenotype

Share to Receptors, Neuropeptide

Share to Receptors, Pituitary Hormone-Regulating Hormone

Source

Identifiers

PMID: 23392099
DOI: 10.1159/000342575

Genes

GHRHR
GHRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Molecular and clinical aspects of GHRH receptor mutations.PMID 23392099Read ↗

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

Growth hormone releasing hormone receptor.Semantic proximity Read ↗

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.Semantic proximity Read ↗

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.Semantic proximity Read ↗

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

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.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 ↗

Growth Hormone Receptor Mutations Related to Individual Dwarfism.Semantic proximity Read ↗

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.Semantic proximity Read ↗

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.Semantic proximity Read ↗

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.Semantic proximity Read ↗

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.Semantic proximity Read ↗

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