Property Summary

NCBI Gene PubMed Count 79
PubMed Score 132.38
PubTator Score 180.06

Knowledge Summary

Patent (5,628)

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer 1.200 7.3e-10
pituitary cancer -6.300 1.2e-13

Gene RIF (60)

PMID Text
25761575 A reduced stature in older subjects heterozygous for the c.57+1G>A GHRHR mutation, indicating different effects of heterozygosis through lifespan.
25752763 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 cells
25541890 Identification of new missense mutations and an insertion mutation for the GHRHR gene in patients with isolated growth hormone deficiency.
25153028 Indel mutation in the growth hormone releasing hormone receptor gene is associated with isolated growth hormone deficiency.
24479854 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.
24057284 Genu valgum was more prevalent in growth hormone deficiency GHRHR mutation patients than controls.
23789946 we present the results of screening for mutations in GH1 and GHRHR genes in a large cohort of Argentinian patients with IGHD. These suggest that the p.Arg183His mutation associated with the type II dominant form of IGHD might be relatively common.
23602557 Compound heterozygous mutations of the growth hormone-releasing hormone receptor gene is associated with isolated growth hormone deficiency
23052699 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 ancestor
22489751 The study established the GHRHR gene sequence variation map in isolated severe growth hormone deficiency patients and normal adult height.
22160161 GHRH-R and Hsp90 were found to be independent predictive factors of histopathological response to neoadjuvant RCT.
21995288 bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in GHRHR
21816782 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 deficiency
21044116 The homozygous GHRHR mutation was rare, being detected in only one Japanese isolated GH deficiency family.
20819778 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20810604 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20374725 This chapter reviews the biology of the GHRHR, the mutations that affect its gene and their effects in homozygous and heterozygous individuals.
19965916 Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.
19965916 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19897610 These results show, for the first time, the activation of the MAPKs cascade by the splic variant (SV1) receptor.
19733620 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.
19640273 Common variants of the GNRH1 and GNRHR genes are not associated with risk of invasive breast cancer in Caucasians
19622623 Observational study of gene-disease association. (HuGE Navigator)
19567534 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.
19524226 The endometriotic stromal cells (ESCs) and transformed human ESCs, but not normal endometrial tissues, expressed GHRH-R mRNA.
19487270 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19209235 GHRHR might be one of the most important genes so far identified affecting normal variation in human height.
19209235 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19029774 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.
18785993 Genetic screening of GH1 and GHRHR mutations in a Dutch population with isolated GH deficiency (IGHD).
18785993 Observational study of gene-disease association. (HuGE Navigator)
18629632 targeting the GHRH receptor may be a therapeutic option in Triple-negative breast cancers
18255167 the expression of GHRH and its tumoral receptor SV1 in primary human melanomas and dysplastic nevi by immunohistochemistry. None of the specimens tested expressed GHRH
18034778 Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation.
17546465 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17356054 Observational study of gene-disease association. (HuGE Navigator)
17356054 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 sensitivity
16820890 analysis of receptors for growth hormone-releasing hormone in human osteosarcomas and Ewing's sarcomas
16606630 Observational study of gene-disease association. (HuGE Navigator)
16284391 Observational study of gene-disease association. (HuGE Navigator)
16214911 Observational study of gene-disease association. (HuGE Navigator)
15944917 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.
15362970 autocrine stimulatory loop between GHRH and SV1 variant of GHRH receptor in primary cancers.
12867592 GHRH receptor may be associated with carcinogenesis
12444890 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).
12424433 mutations in the GHRH receptor gene make abnormalities of this gene one of the most common causes of of isolated growth hormone deficiency--REVIEW
12364462 presence of GHRH and its tumoral receptor splice variants in prostate cancers suggests the possible existence of an autocrine mitogenic loop
12220735 an examination of the possible clinical significance of a polymorphism in the gene of this receptor: involvement in acromegaly
12220726 expression of mRNA and splice variants of this receptor in human malignant bone tumors
12126741 human GHRHR isoforms are found in experimental prostate neoplasms in mice; this could explain the effects of GHRH antagonists on growth of prostate cancer
11875102 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 gene
11773624 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 cells

AA Sequence

MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGS      1 - 70
GEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSIS     71 - 140
IVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASH    141 - 210
FATMTNFSWLLAEAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSP    211 - 280
YWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPD    281 - 350
NAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT    351 - 420
SMC                                                                       421 - 423
//

Text Mined References (80)

PMID Year Title
25761575 2015 Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects.
25752763 2015 Expression of Receptors for Pituitary-Type Growth Hormone-Releasing Hormone (pGHRH-R) in Human Papillary Thyroid Cancer Cells: Effects of GHRH Antagonists on Matrix Metalloproteinase-2.
25541890 2014 Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.
25153028 2014 A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.
24479854 2014 Differential immunostaining of various types of breast carcinomas for growth hormone-releasing hormone receptor - Apocrine epithelium and carcinomas emerging as uniformly positive.
24057284 2013 Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone.
23789946 2014 Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency.
23602557 2013 Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.
23052699 2012 GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
22489751 2012 Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
22160161 2012 Possible predictors of histopathological response to neoadjuvant chemoradiotherapy for rectal cancer.
21995288 2012 The consequences of growth hormone-releasing hormone receptor haploinsufficiency for bone quality and insulin resistance.
21816782 2011 A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia.
21044116 2011 Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
20819778 2010 MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
20810604 2010 Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20374725 2009 Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
19965916 2010 Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19897610 2010 Activation of mitogen-activated protein kinases by a splice variant of GHRH receptor.
19733620 2009 Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.
19640273 2009 Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).
19622623 2009 A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
19567534 2009 Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
19524226 2010 The growth hormone-releasing hormone (GHRH) antagonist JV-1-36 inhibits proliferation and survival of human ectopic endometriotic stromal cells (ESCs) and the T HESC cell line.
19487270 2009 A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19209235 2009 Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19029774 2008 Elevation of growth hormone-releasing hormone receptor messenger ribonucleic acid expression in growth hormone-secreting pituitary adenoma with Gsalpha protein mutation.
18785993 2009 Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
18629632 2009 Triple-negative breast cancers express receptors for growth hormone-releasing hormone (GHRH) and respond to GHRH antagonists with growth inhibition.
18577758 2008 Dissociation of heterotrimeric g proteins in cells.
18255167 2008 Expression of growth hormone-releasing hormone receptor splice variant 1 in primary human melanomas.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
18034778 2008 Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.
17546465 2007 Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation.
17356054 2007 Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16820890 2006 Characterization of receptors for growth hormone-releasing hormone in human osteosarcomas and Ewing's sarcomas.
16606630 2006 Polymorphisms in genes involved in GH1 release and their association with breast cancer risk.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16284391 2005 Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.
16214911 2005 Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study.
15944917 2005 Cellular distribution of growth hormone-releasing hormone receptor in human reproductive system and breast and prostate cancers.
15362970 2004 Immunohistochemical detection of GHRH and its receptor splice variant 1 in primary human breast cancers.
12867592 2003 Ligand-dependent and -independent effects of splice variant 1 of growth hormone-releasing hormone receptor.
12853948 2003 The DNA sequence of human chromosome 7.
12794696 2003 Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12656663 2003 Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene.
12606621 2003 Interaction of the growth hormone-releasing peptides ghrelin and growth hormone-releasing peptide-6 with the motilin receptor in the rabbit gastric antrum.
12534354 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.
12444890 2002 Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.
12424433 2002 Growth Hormone Releasing Hormone (GHRH) and the GHRH Receptor.
12364462 2002 Expression of growth hormone-releasing hormone and its receptor splice variants in human prostate cancer.
12220735 2002 A polymorphism in the growth hormone-releasing hormone receptor gene: clinical significance?
12220726 2002 Expression of mRNA for growth hormone-releasing hormone and splice variants of GHRH receptors in human malignant bone tumors.
12126741 2002 Expression of growth hormone-releasing hormone (GHRH) and splice variants of GHRH receptors in human experimental prostate cancers.
12036966 2002 Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.
11773624 2002 Expression of a splice variant of the receptor for GHRH in 3T3 fibroblasts activates cell proliferation responses to GHRH analogs.
11232012 2001 Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
10962031 2000 Isolation and sequencing of cDNAs for splice variants of growth hormone-releasing hormone receptors from human cancers.
10461027 1999 Restricted presence of the growth hormone-releasing hormone receptor to somatotropes in rat and human pituitaries.
10429879 1999 Molecular and cell biology of the growth hormone-releasing hormone receptor.
10084571 1999 Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.
9814493 1998 Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.
9482665 1998 Structure and regulation of the human growth hormone-releasing hormone receptor gene.
9467553 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.
8528260 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
8188233 1994 Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization.
7680413 1993 Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.
7629234 1995 Identification of human growth hormone-releasing hormone receptor splicing variants.
7559877 1995 Identification of alternatively spliced messenger ribonucleic acid encoding truncated growth hormone-releasing hormone receptor in human pituitary adenomas.
1333056 1992 Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone.