Recombinant Human Growth hormone receptor (GHR), partial (Active)

1. co-administration of Ghr and GH is a promising therapeutic tool for reversing immunosuppression caused by sepsis in the geriatric population. PMID: 28115288
2. Growth hormone receptor gene polymorphism is associated with scoliosis in Prader-Willi syndrome. PMID: 29273483
3. Study in lung cancer BEAS-2B cells shows that SOCS2 binding to the growth hormone receptor (GHR) is impaired by a GHR threonine substitution at Pro 495. This results in decreased internalisation and degradation of the receptor. PMID: 28967904
4. Genotype frequencies of four growth hormone receptor SNPs (rs2972781, rs6451620, rs12518414, and rs7727047) significantly differed between Han and Hani obstructive sleep apnea syndrome (OSAS) patients groups, indicating ethnic differences. The A allele frequency of the rs12518414 polymorphism and G allele frequency of the rs7727047 were significantly higher in Han OSAS patients compared with Hani patients. PMID: 29651721
5. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. PMID: 29748515
6. GHRH and GHRH-R are expressed in human adipocytes and are negatively associated; GHRH at low doses may exert an anti-obesity effect by inhibiting HMSC differentiation in adipocytes and by increasing adipocyte lipolysis in an autocrine or paracrine pathway; these effects are mediated by GH and GH-R PMID: 28626214
7. Genetic variations at the human growth hormone receptor gene locus are associated with idiopathic short stature. PMID: 28557176
8. Short small for gestational age children carrying the d3-GHR polymorphism had increased spontaneous growth, lower Insulin sensitivity and a compensatory increase in glucose, C-peptide and insulin before GH therapy compared to children homozygous for the full-length allele. PMID: 28719834
9. In a meta-analysis of a combined group of 324 acromegaly patients obtained from 4 separate study cohorts, the presence of 1 or 2 copies of the exon 3 deletion-GHR polymorphism had no significant effect on the lowest insulin-like growth factor I levels during pegvisomant treatment nor on the required pegvisomant dose to achieve these levels. PMID: 27513761
10. Data suggest that subjects with 6Psi GHR point mutation [intronic GHR pseudoexon mutation 6Psi, base change A(-1) to G(-1) in intron 6] exhibit heterogeneity in phenotype and in response to therapy with rhIGF1 (recombinant human insulin-like growth factor I); there is mismatch between clinical and biochemical features in patients with this GHR mutations; rhIGF1 treatment improves target height outcomes in these patients. PMID: 29500309
11. these results show that GHR polymorphism is associated with the length and width of the lip PMID: 28415752
12. Our set of findings identify an unknown mechanism of GH regulation in mediating melanoma drug resistance and validates GHR as a unique therapeutic target for sensitizing highly therapy-resistant human melanoma cells to lower doses of anti-cancer drugs. PMID: 28293855
13. The results suggest that both of the possible single mutation-containing heteromeric GH-GHR complexes, as well as the double GHR mutant complex result in perturbation of complex structures, with altered ability of the GHR dimers to interact with the GH peptide. PMID: 28523647
14. GHR and PRLR associate in complexes comprised of GHR-GHR/PRLR-PRLR heteromers consisting of GHR homodimers and PRLR homodimers, rather than GHR-PRLR heterodimers. PMID: 27003442
15. d3/d3 GHR genotype was found twice as frequent in appropriate for gestational age (AGA) and large for gestational age (LGA) cohorts compared to small for gestational age (SGA) subjects, whereas no significant differences in the frequency distribution of the GHR genotypes between LGA and AGA newborns were detected. PMID: 25411947
16. Molecular interactions of EphA4, growth hormone receptor, Jak2, and STAT5B have been described. PMID: 28686668
17. GHR levels correlate with levels of lipases and lipid droplet-associated proteins crucial for lipolysis. Thus, higher GHR expression in the abdominal depot when compared with the gluteal depot may underlie the in vivo effect of GH to specifically reduce abdominal adipose tissue mass. PMID: 27015877
18. There was a strong relationship between growth hormone receptor (GHR)-d3/fl gene polymorphism status and leptin levels in acromegalic patients PMID: 28791847
19. GHR exon 3 genotype appears to have no clinical significance, at least in Brazilian acromegaly patients. PMID: 27001494
20. No differences were observed in GHR genotype distribution between the idiopathic growth hormone deficiency (IGHD)patients and the control group. Patients with IGHD did not differ among each other depending on their genotype (fl/fl-GHR or fl/d3-GHR) in terms of growth velocity before introducing therapy or growth rate after one year of recombinant human GH therapy. PMID: 27857044
21. GHR-exon 3 polymorphisms did not show any consistent association with clinical and laboratory features of acromegalic patients even after treatment. PMID: 25552351
22. We report a rapid, optimized method for genotyping the GHR full-length versus exon 3-deleted isoform (GHRd3) PMID: 26067082
23. Data indicate that growth hormone binding protein (GHR) and KCNQ1 potassium channel variants with large effects on stature. PMID: 26366551
24. Association between GHR/exon-3 variants and serum GH, IGF-1 and IGFBP-3 levels in diabetes and coronary heart disease. PMID: 25977383
25. Data suggest that cell membrane/lipid bilayer binding of GHR intracellular domain is independent of transient changes in protein secondary structure of GHR. PMID: 25846210
26. The d3-GHR variant genotype did not have an effect on clinical features or comorbidity in acromegalic patients, but it might play a role in GH/IGF-1 level discordance in acromegaly. PMID: 24706164
27. Genetic and epigenetic variation at the GHR and IGF-1 loci play a major role as independent modulators of individual GH sensitivity. PMID: 25835289
28. The E180splice mutation in the GHR gene causing Laron syndrome. PMID: 24664892
29. A soluble IGF-1R extracellular domain fragment (sol IGF-1R) interacts with GHR in response to GH. PMID: 25211187
30. Effective mandibular length (condylion-gnathion) and lower face height (anterior nasal spina-menton) were associated with P561T variant. finding supports GHR might be candidate gene for mandibular morphogenesis in this population. PMID: 24654940
31. miRNA (miR)-129-5p, miR-142-3p, miR-202, and miR-16 are potent inhibitors of human GHR expression in normal (HEK293) and cancer (MCF7 and LNCaP) cells. PMID: 25073105
32. The GHRd3 genotype was negatively associated with birth size but it was not associated with adult height or weight, plasma IGF1, metabolic phenotype or any marker of increased cardiovascular risk in young adults PMID: 24893921
33. The growth hormone receptor d3/fl polymorphism was found to be of functional relevance and associated with central adiposity. PMID: 25391539
34. Altogether, GHR silencing controls the growth and metastasis of pancreatic cancer and reveals its importance in pancreatic cancer pathogenesis. PMID: 25301264
35. The GC genotype of rs6898743 in the GHR gene was negatively associated with esophageal squamous-cell carcinoma. PMID: 24608110
36. In the Brazilian population, GHR exon 3 polymorphism is a severity-related risk factor for osteoporosis, but does not appear to be associated with disease status. PMID: 23812803
37. The c.266+83G>T is the second intronic GHR mutation identified that activates a cryptic 5' donor splice site and is responsible for Laron syndrome. PMID: 24296660
38. An intronic GHR mutation should be considered in all patients with signs of growth hormone insensitivity and no coding exon mutations, even if the phenotype is mild and even if other genetic variants have been found. PMID: 24335149
39. Obtained data revealed remarkable increase in the expression levels of GHR and NEDD9 proteins in both epithelial and stromal components of axillary lymph node metastases in comparison with those of non-metastatic tumours. PMID: 24676793
40. This study suggests for the first time that exon 3 deletion of GHR may predispose patients with active and controlled acromegaly to a higher risk of vertebral fractures. PMID: 24866575
41. GHR-exon 3 polymorphism is not associated with idiopathic short stature. PMID: 23999134
42. GHRd3 polymorphism seemed only to have a weak influence on male reproductive function of borderline significance. PMID: 24412931
43. siRNA targeted inhibition of GHR in human colon cancer SW480 cells resulted in anti-tumor effects in nude mice. PMID: 24307807
44. GHRs occur as approximately 500-kDa complexes that dimerize into active approximately 900-kDa complexes upon GH binding. The dimerized complexes act as platforms for transient interaction with JAK2 and ubiquitin ligases. PMID: 24280222
45. growth hormone receptor, insulin-like growth factor-1 receptor and insulin-like growth factors binding protein-3 have a role in the pathogenesis of non-melanoma skin cancers, especially squamous cell carcinoma. PMID: 24022308
46. In women, the d3-GHR polymorphism was associated with symptomatic osteoarthritis, especially at the hip site. PMID: 23740230
47. The presence of growth hormone receptor (GHR) gene polymorphism affects growth hormone treatment of the Prader-Willi syndrome patients PMID: 23696513
48. genetic association study in a population in Sweden: Data suggest that, among patients with growth hormone deficiency treated with hormone replacement therapy, homozygotes of full-length deletion of GHR respond better than those with exon 3 deletion. PMID: 24114431
49. Data suggest growth hormone (GH) potentiates estradiol effects on proliferation in breast cancer cells expressing high levels of GHR; GH/GHR signaling overcomes proliferative effect of insulin-like growth factor I receptor tyrosine kinase inhibition. PMID: 23782942
50. the GHR and IGF1 genes may have a role in African pygmies' short stature. PMID: 23047741

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HGNC: 4263

OMIM: 143890

KEGG: hsa:2690

STRING: 9606.ENSP00000230882

UniGene: Hs.125180