Property Summary

NCBI Gene PubMed Count 79
Grant Count 37
R01 Count 26
Funding $3,312,372.05
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 0.000
pituitary cancer -6.300 0.000

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.
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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.
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