GHRHR Antibody

1. Mutation in GHRHR is associated with pituitary diseases. PMID: 29277338
2. Report GHRH-R labelling of apocrine glands and neoplastic epithelium in adnexal tumours and apocrine glands of the skin. PMID: 29895126
3. Single nucleotide variant in GHRHR gene is associated with isolated growth hormone deficiency. PMID: 28910730
4. GHRHR mutation is associated with growth hormone deficiency. PMID: 28525353
5. The pP79L mutation is associated with the compromise in function, with the residual partial activity explaining the mild phenotype. PMID: 27501283
6. This is the first report to demonstrate the GHRH-R codon 72 mutation in Sri Lankan patients with confirmed growth hormone deficiency. PMID: 27031974
7. This study shows that GHRH-R is expressed by the majority of malignant mixed Mullerian tumors in both epithelial and mesenchymal components PMID: 26535981
8. Identification of new missense mutations and an insertion mutation for the GHRHR gene in patients with isolated growth hormone deficiency. PMID: 25541890
9. A reduced stature in older subjects heterozygous for the c.57+1G>A GHRHR mutation, indicating different effects of heterozygosis through lifespan. PMID: 25761575
10. 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 PMID: 25752763
11. Indel mutation in the growth hormone releasing hormone receptor gene is associated with isolated growth hormone deficiency. PMID: 25153028
12. 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
13. Compound heterozygous mutations of the growth hormone-releasing hormone receptor gene is associated with isolated growth hormone deficiency PMID: 23602557
14. Genu valgum was more prevalent in growth hormone deficiency GHRHR mutation patients than controls. PMID: 24057284
15. 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 PMID: 23052699
16. The study established the GHRHR gene sequence variation map in isolated severe growth hormone deficiency patients and normal adult height. PMID: 22489751
17. bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in GHRHR PMID: 21995288
18. GHRH-R and Hsp90 were found to be independent predictive factors of histopathological response to neoadjuvant RCT. PMID: 22160161
19. 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 PMID: 21816782
20. This chapter reviews the biology of the GHRHR, the mutations that affect its gene and their effects in homozygous and heterozygous individuals. PMID: 20374725
21. The homozygous GHRHR mutation was rare, being detected in only one Japanese isolated GH deficiency family. PMID: 21044116
22. The endometriotic stromal cells (ESCs) and transformed human ESCs, but not normal endometrial tissues, expressed GHRH-R mRNA. PMID: 19524226
23. These results show, for the first time, the activation of the MAPKs cascade by the splic variant (SV1) receptor. PMID: 19897610
24. Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene. PMID: 19965916
25. 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 PMID: 11773624
26. 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 PMID: 11875102
27. human GHRHR isoforms are found in experimental prostate neoplasms in mice; this could explain the effects of GHRH antagonists on growth of prostate cancer PMID: 12126741
28. expression of mRNA and splice variants of this receptor in human malignant bone tumors PMID: 12220726
29. an examination of the possible clinical significance of a polymorphism in the gene of this receptor: involvement in acromegaly PMID: 12220735
30. mutations in the GHRH receptor gene make abnormalities of this gene one of the most common causes of of isolated growth hormone deficiency--REVIEW PMID: 12424433
31. 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
32. GHRH receptor may be associated with carcinogenesis PMID: 12867592
33. autocrine stimulatory loop between GHRH and SV1 variant of GHRH receptor in primary cancers. PMID: 15362970
34. 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
35. analysis of receptors for growth hormone-releasing hormone in human osteosarcomas and Ewing's sarcomas PMID: 16820890
36. 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 PMID: 17356054
37. 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
38. 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 PMID: 18255167
39. targeting the GHRH receptor may be a therapeutic option in Triple-negative breast cancers PMID: 18629632
40. 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
41. GHRHR might be one of the most important genes so far identified affecting normal variation in human height. PMID: 19209235
42. 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
43. Common variants of the GNRH1 and GNRHR genes are not associated with risk of invasive breast cancer in Caucasians PMID: 19640273
44. 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

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HGNC: 4266

OMIM: 139191

KEGG: hsa:2692

STRING: 9606.ENSP00000320180

UniGene: Hs.733003