GHRHR Antibody, FITC conjugated

1. Mutations in GHRHR have been linked to pituitary diseases. PMID: 29277338
2. Research has reported GHRH-R labeling of apocrine glands and neoplastic epithelium in adnexal tumors and apocrine glands of the skin. PMID: 29895126
3. A single nucleotide variant in the GHRHR gene has been associated with isolated growth hormone deficiency. PMID: 28910730
4. GHRHR mutations have been implicated in growth hormone deficiency. PMID: 28525353
5. The pP79L mutation is associated with compromised function, with residual partial activity explaining the mild phenotype. PMID: 27501283
6. This is the first reported instance of the GHRH-R codon 72 mutation in Sri Lankan patients with confirmed growth hormone deficiency. PMID: 27031974
7. This study demonstrates that GHRH-R is expressed by the majority of malignant mixed Mullerian tumors in both epithelial and mesenchymal components. PMID: 26535981
8. New missense mutations and an insertion mutation have been identified in 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 suggests different effects of heterozygosis throughout lifespan. PMID: 25761575
10. This research shows that pGHRH-R and its main splice variant are expressed in thyroid tissue and are upregulated in tumor cells compared to normal thyroid cells. PMID: 25752763
11. An indel mutation in the growth hormone releasing hormone receptor gene has been linked to isolated growth hormone deficiency. PMID: 25153028
12. Preliminary findings suggest a higher 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 are associated with isolated growth hormone deficiency. PMID: 23602557
14. Genu valgum (knock-knee) was more prevalent in growth hormone deficiency GHRHR mutation patients than controls. PMID: 24057284
15. A novel splice-disrupting mutation in GHRHR was identified in two siblings, providing evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes share the same haplotype ancestor. PMID: 23052699
16. This study established the GHRHR gene sequence variation map in isolated severe growth hormone deficiency patients and normal adult height. PMID: 22489751
17. Research has investigated 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 have been identified as independent predictive factors of histopathological response to neoadjuvant RCT. PMID: 22160161
19. This study describes a new frameshift 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 provides a review of the biology of GHRHR, the mutations affecting its gene, and their effects in homozygous and heterozygous individuals. PMID: 20374725
21. The homozygous GHRHR mutation was rare, detected only in one Japanese isolated GH deficiency family. PMID: 21044116
22. Endometriotic stromal cells (ESCs) and transformed human ESCs, but not normal endometrial tissues, expressed GHRH-R mRNA. PMID: 19524226
23. These results demonstrate, for the first time, the activation of the MAPKs cascade by the splice variant (SV1) receptor. PMID: 19897610
24. Long lifespan observed in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene. PMID: 19965916
25. To investigate whether (splice variant) SV1 mediates mitogenic effects on nonpituitary tissues, SV1 was expressed in 3T3 mouse fibroblasts and the properties of the transfected cells were studied. PMID: 11773624
26. Results show that mutations in 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, which could explain the effects of GHRH antagonists on prostate cancer growth. PMID: 12126741
28. Expression of mRNA and splice variants of this receptor has been observed in human malignant bone tumors. PMID: 12220726
29. Research has examined the possible clinical significance of a polymorphism in the gene of this receptor, suggesting its involvement in acromegaly. PMID: 12220735
30. Mutations in the GHRH receptor gene are among the most common causes of isolated growth hormone deficiency. PMID: 12424433
31. Two previously undescribed mutations in GHRHR, predicted to cause complete lack of functional GHRHR protein, were identified: a nonsense mutation in codon 43 (Q43X) and a splice mutation at the beginning of intron 3 (IVS3+1G-->A). PMID: 12444890
32. The GHRH receptor may be associated with carcinogenesis. PMID: 12867592
33. An autocrine stimulatory loop between GHRH and the SV1 variant of the GHRH receptor has been observed in primary cancers. PMID: 15362970
34. GHRH-R has been demonstrated in prostate and breast carcinomas, suggesting potential therapeutic applications for GHRH antagonists in the treatment of prostatic and mammary tumors. PMID: 15944917
35. Research has analyzed 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 reduced adult stature or serum IGF-I levels, but is linked to changes in body composition and potentially increased insulin sensitivity. PMID: 17356054
37. The size of individual abdominal organs is influenced differently by severe and congenital lack of GH due to a GHRH-R mutation. PMID: 18034778
38. Research has investigated the expression of GHRH and its tumoral receptor SV1 in primary human melanomas and dysplastic nevi by immunohistochemistry. No GHRH expression was detected in the specimens tested. PMID: 18255167
39. Targeting the GHRH receptor may be a therapeutic option for Triple-negative breast cancers. PMID: 18629632
40. Gsp mutations upregulate GHRHR mRNA expression in GH-secreting pituitary adenoma cells and 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 identified so far that affects 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 the 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 the risk of invasive breast cancer in Caucasians. PMID: 19640273
44. These results provide strong evidence that the splicing mutation IVS8+1G>A of the 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