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Usage
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Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
Gene References into Functions
Mutation in GHRHR is associated with pituitary diseases.PMID:29277338
Report GHRH-R labelling of apocrine glands and neoplastic epithelium in adnexal tumours and apocrine glands of the skin.PMID:29895126
Single nucleotide variant in GHRHR gene is associated with isolated growth hormone deficiency.PMID:28910730
GHRHR mutation is associated with growth hormone deficiency.PMID:28525353
The pP79L mutation is associated with the compromise in function, with the residual partial activity explaining the mild phenotype.PMID:27501283
This is the first report to demonstrate the GHRH-R codon 72 mutation in Sri Lankan patients with confirmed growth hormone deficiency.PMID:27031974
This study shows that GHRH-R is expressed by the majority of malignant mixed Mullerian tumors in both epithelial and mesenchymal componentsPMID:26535981
Identification of new missense mutations and an insertion mutation for the GHRHR gene in patients with isolated growth hormone deficiency.PMID:25541890
A reduced stature in older subjects heterozygous for the c.57+1G>A GHRHR mutation, indicating different effects of heterozygosis through lifespan.PMID:25761575
we found that pGHRH-R and its main splice variant are expressed in thyroid tissue and was upregulated in tumor cells compared to normal thyroid cellsPMID:25752763
Indel mutation in the growth hormone releasing hormone receptor gene is associated with isolated growth hormone deficiency.PMID:25153028
These preliminary results suggest a greater than average GHRH-R expression in invasive lobular carcinomas and invasive ductal carcinomas associated with casting-type calcifications on the mammogram.PMID:24479854
Compound heterozygous mutations of the growth hormone-releasing hormone receptor gene is associated with isolated growth hormone deficiencyPMID:23602557
Genu valgum was more prevalent in growth hormone deficiency GHRHR mutation patients than controls.PMID:24057284
We report a novel splice-disrupting mutation in GHRHR in 2 siblings and provide evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes have the same haplotype ancestorPMID:23052699
The study established the GHRHR gene sequence variation map in isolated severe growth hormone deficiency patients and normal adult height.PMID:22489751
bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in GHRHRPMID:21995288
GHRH-R and Hsp90 were found to be independent predictive factors of histopathological response to neoadjuvant RCT.PMID:22160161
study describes a new frame shift mutation in the coding sequence of exon 4 (corresponding to the extracellular domain of the receptor)(c.391delG) in the GHRHR in a family with isolated GH deficiencyPMID:21816782
This chapter reviews the biology of the GHRHR, the mutations that affect its gene and their effects in homozygous and heterozygous individuals.PMID:20374725
The homozygous GHRHR mutation was rare, being detected in only one Japanese isolated GH deficiency family.PMID:21044116
The endometriotic stromal cells (ESCs) and transformed human ESCs, but not normal endometrial tissues, expressed GHRH-R mRNA.PMID:19524226
These results show, for the first time, the activation of the MAPKs cascade by the splic variant (SV1) receptor.PMID:19897610
Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.PMID:19965916
To ascertain whether (splice variant) SV1 mediates mitogenic effects on nonpituitary tissues, we expressed SV1 in 3T3 mouse fibroblasts and studied the properties of the transfected cellsPMID:11773624
results demonstrate that mutations in the GHRHR are not limited to the coding sequence and that promoter mutations that impair Pit-1 binding can reduce expression of the GHRHR genePMID:11875102
human GHRHR isoforms are found in experimental prostate neoplasms in mice; this could explain the effects of GHRH antagonists on growth of prostate cancerPMID:12126741
expression of mRNA and splice variants of this receptor in human malignant bone tumorsPMID:12220726
an examination of the possible clinical significance of a polymorphism in the gene of this receptor: involvement in acromegalyPMID:12220735
mutations in the GHRH receptor gene make abnormalities of this gene one of the most common causes of of isolated growth hormone deficiency--REVIEWPMID:12424433
Compound heterozygotes for two previously undescribed mutations in the GHRHR that are predicted to cause complete lack of functional GHRHR protein: a nonsense mutation in codon 43 (Q43X), and a splice mutation at the beginning of intron 3 (IVS3+1G-->A).PMID:12444890
GHRH receptor may be associated with carcinogenesisPMID:12867592
autocrine stimulatory loop between GHRH and SV1 variant of GHRH receptor in primary cancers.PMID:15362970
GHRH-R was demonstrated in prostate and breast carcinomas, opening a variety of possibilities for the use of GHRH antagonists in the treatment of prostatic and mammary tumors.PMID:15944917
analysis of receptors for growth hormone-releasing hormone in human osteosarcomas and Ewing's sarcomasPMID:16820890
Heterozygosity for a null GHRHR mutation is not associated with reduction in adult stature or in serum IGF-I but is associated with changes in body composition and possibly an increase in insulin sensitivityPMID:17356054
Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation.PMID:18034778
the expression of GHRH and its tumoral receptor SV1 in primary human melanomas and dysplastic nevi by immunohistochemistry. None of the specimens tested expressed GHRHPMID:18255167
targeting the GHRH receptor may be a therapeutic option in Triple-negative breast cancersPMID:18629632
Gsp mutations up-regulate GHRHR mRNA expression in GH-secreting pituitary adenoma cells & desensitize the adenoma cells to GHRH in terms of their GHRHR mRNA expression.PMID:19029774
GHRHR might be one of the most important genes so far identified affecting normal variation in human height.PMID:19209235
Mutations in GH1 and GHRHR were identified in 41 patients from 21 pedigrees, representing 11.1% of our cohort with a higher prevalence of mutations in familial cases (38.6%) and in consanguineous pedigrees (75%) of congenital growth hormone deficiency.PMID:19567534
Common variants of the GNRH1 and GNRHR genes are not associated with risk of invasive breast cancer in CaucasiansPMID:19640273
These results provide strong evidence that the splicing mutation IVS8+1G>A of growth hormone-releasing hormone receptor is a cause of pituitary dwarfism in the Chinese family.PMID:19733620