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Human Growth Hormone Receptor Protein expressed in HEK-293 Cells - ABIN2181159
Ghizzoni, Duquesnoy, Torresani, Vottero, Goossens, Bernasconi: Isolated growth hormone deficiency type IA associated with a 45-kilobase gene deletion within the human growth hormone gene cluster in an Italian family. in Pediatric research 1995
Show all 5 Pubmed References
our findings suggest that the d3-GHR, as indicated by the distribution of homozygotes among the four populations examined, may be involved in modulating human longevity.
variant rs6184 associated with tooth root lengths and tooth length for upper and lower lateral incisors and upper canines
rs6184 SNP alone or in combination with other SNPs in the growth hormone receptor gene yields significant horizontal and longitudinal variations of the mandibular morphology and might be a strong/independent prognostic indicator for Class III skeletal-facial profile in the present population.
co-administration of Ghr and GH is a promising therapeutic tool for reversing immunosuppression caused by sepsis in the geriatric population.
Growth hormone receptor gene polymorphism is associated with scoliosis in Prader-Willi syndrome.
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.
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.
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.
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
Genetic variations at the human growth hormone receptor gene locus are associated with idiopathic short stature.
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.
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.
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.
these results show that GHR polymorphism is associated with the length and width of the lip
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.
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.
These results implicate TIMP3 as a modulator of cell surface GHR abundance and the ability of GH to promote cellular signaling.
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.
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.
Molecular interactions of EphA4, growth hormone receptor, Jak2, and STAT5B have been described.
Chow-fed, adult-onset, hepatocyte-specific, GH receptor knockdown (aHepGHRkd) mice rapidly (within 7 days) develop steatosis associated with increased hepatic de novo lipogenesis, independent of changes in systemic metabolic function. 6 months after induction of aHepGHRkd early signs of NASH develop, which include hepatocyte ballooning, inflammation, signs of mild fibrosis, and elevated plasma alanine aminotransferase.
GHR -/- mice had decreased body weight but increased percent fat mass. Serum FGF21 levels were unchanged in GHR -/- mice. Expression of Fgf21, Fgfr1, and Klb mRNA in white AT and liver were downregulated or unchanged inGHR -/- mice. The only exception was Fgf21 expression in brown AT of GHR -/-, which trended toward increased expression.
A role for GH in influencing hormone signaling in adipose tissue in a depot-dependent manner in GHR-/- knock-out mice.
disruption of cardiomyocyte GH-induced signaling in adult GhrKO mice does not affect cardiac function, but it does play a role in systemic glucose homeostasis, in part through modulation of circulating IGF-1.
Snell, GHKRO, and PAPPA-KO mice express high levels of two proteins involved in DNA repair, O-6-methylguanine-DNA methyltransferase (MGMT) and N-myc downstream-regulated gene 1 (NDRG1).
adult-onset growth hormone receptor knockout mice (aGHRKO mice), like GHRKO animals, displayed retarded growth and high adiposity with improved insulin sensitivity. Importantly, female aGHRKO animals showed an increase in their maximal lifespan, whereas the lifespan of male aGHRKO mice was not different from controls.
Similar to other mice with decreased GH action, female GHA mice display reduced age-related lipid redistribution and improved insulin sensitivity, but no change in cellular senescence.
The dwarf phenotype was partially corrected via plasmid containing the growth hormone gene administrated intramuscularly, depending on age at treatment.
GHR-dependent downregulation of NLRP3 inflammasome in macrophages is linked to pro-longevity effects that maintain immune system homeostasis in aging.
both brown adipose tissue (BAT) and white adipose tissue (WAT) contribute in different ways to phenotypes in GHRKO mice, with Ghr ablation blunting inflammation in BAT as well as cellular metabolism and mitochondrial biogenesis in WAT
Data (including data from studies in knockout mice) suggest Socs2 (suppressor of cytokine signaling 2) regulates liver regeneration rate after partial hepatectomy, Ghr level via ubiquitination/proteolysis, and serum Igf1 (insulin-like growth factor-1).
It was concluded that endogenously secreted PTH and GHR signaling in bone are necessary to establish radial bone growth and optimize mineral acquisition during growth.
removal of GHR in muscle of male MuGHRKO mice replicates some of the health benefits seen in global GHR-/- mice including improvements to glucose homeostasis and smaller body weight in males
GHR knockdown caused increased hepatic de novo lipogenesis (DNL) as well as increased glucokinase mRNA and protein levels as well as fructose-2,6-bisphosphate levels.
deletion in liver affects regulators of mitochondrial biogenesis
Global GHR deletion induces beneficial changes in apoptotic factors, whereas liver-specific GHR disruption does not. Sexual dimorphism may play a role in regulating apoptosis during liver-specific suppression of the somatotrophic signaling.
loss of Ghr signaling may slow the progression from fibrosis/cirrhosis to cancer in the liver
Mice in which GHR has been disrupted only in the liver do not show extended lifespan and also fail to show the decline in mTORC1 and increase in mTORC2 seen in mice with global loss of GHR.
Hematopoietic-specific genetic deletion of Ghr neither impacted steady-state hematopoiesis nor serial transplantation potential.
Data (including data from knockout mice) suggest that GH/GH receptor signaling in liver plays important roles in body size and body composition throughout life; in addition, liver-derived Igf1 (somatomedin) is important for normal body growth.
rs41639262 associated with fertility in hot-humid climate
Most heifer reproductive traits were not significantly affected by CAST and CAPN1 markers that are widely used to improve beef tenderness by selection and breeders should not be concerned with how these markers affect reproduction and other heifer traits with the possible exception of CAPN1 effects on calving date.
There was no association between the genotypes of GH and IGF-IS and fertility of Holstein cows raised in semiextensive or intensive regimes, while the STAT5 ABstEII polymorphism was associated with calving-first heat interval in Holstein cows raised in the intensive system.
hepatic growth hormone receptor and suppressor of cytokine signaling (SOCS)2 messenger RNA expression appeared to be promptly and sensitively regulated by increased estradiol levels before ovulation of dairy heifers
Comparatively studied genetic diversity of growth hormone receptor (GHR) in Tibetan cattle and Chinese Holstein cow.
This work confirms the importance of CAPN1 and CAST for tenderness in beef, provides a new effect of CAST on beef tenderness, and questions the utility of GHR as a selection marker for beef quality.
the data support the high potential of the growth hormone receptor F279Y polymorphism as a marker for the improvement of milk traits in selection programs
6 of the published GHR SNPs and 7 of the novel GHR SNPs were associated with at least 1 of the traits--milk yield, fat yield, protein yield, fat percentage, protein percentage, somatic cell score, calving interval, survival and growth and size traits.
Effects of GHR p.Phe279Tyr mutations on milk, fat and protein yield, as well as fat and protein percentage in the milk of 1222 Holstein cows was found to be significantly associated with protein percentage.
Food deprivation-induced decrease in circulating IGF-I in steers is associated with decrease in expression of different IGF-I mRNA variants and specific decrease in expression of growth hormone receptor mRNA variants 1C3 and 1A in liver.
Insulin regulates the efficiency of GH signaling in liver and adipose tissue of dairy cows by acting as a rheostat of GHR synthesis.
Results show that chicken ovalbumin upstream promoter transcription factor II (COUP-TFII), hepatocyte nuclear factor 4alpha (HNF-4alpha) and HNF-4gamma regulate growth hormone receptor 1A promoter activity by binding to a common DNA element
allele and genotype frequencies of microsatellite markers located in the 5'-regulatory region of the IGF1 and GHR genes in beef cattle and effects of these markers on growth and carcass traits in an intensive production system
molecular evolution of GHR in the Bovidae
Polymorphism in exon 10 of growth hormone receptor (GHR) was found to play a role in body weight determination in three cattle breeds. Results indicated that there were six genotypes, namely AA, BB, CC, AB, AC and BC.
FSH, but not E2, stimulated the expression of IR and GHR genes during follicular development.
Single base substitution in the transmembrane domain encoding region of GH receptor gene may influence the physiological properties of the receptor.
The effect of single nucleotide polymorphisms in 6 genes and their associations with production factors in beef cattle are reported.
single nucleotide polymorphisms in GHR significantly affected feed intake, feed conversion, and body energy traits
Nine single nucleotide polymorphisms were identified.
After docking on the nuclear membrane, the porcine growth hormone (GH)-growth hormone receptor (GHR) complex fuses with the nuclear membrane and then enters into the cell nucleus.
Castration significantly reduced the serum growth hormone and the responses of the growth hormone receptor (GHR)
GHR double-allelic knockout pigs were 50% smaller than that of the controls.
Growth hormone (GH) in maturation medium did not increase cumulus expansion in porcine cumulus-oocyte complexes but did improve nuclear maturation, GH had no effect on porcine fertilization and embryo development.
subunit alignment is critical for effective signaling in GH receptor activation
the results of this study provide an anatomical basis for GH-R expression in the porcine oviduct during different stages of the oestrus cycle and pregnancy.
Fos-zippered GHR tails and Jak2, both purified from baculovirus-infected insect cells, interacted via box1 with a binding affinity of approximately 40nM.
Jak2 binding to the growth hormone receptor prevents endocytosis in a non-catalytic manner
GHR gene may be a candidate gene responsible for butcher trait in rabbit.
Reproductive tests showed that double transgenic males did not differ from non-transgenics. It is possible that GHR excess in the muscle tissues of double transgenics may have contributed to lower circulating GH levels and thus reduced the negative effects of this hormone with respect to reproduction.
that concomitant overexpression of GH and GHR resulted in a strong decrease of the somatotrophic axis intracellular signaling by diminishing its principal transcription factor signal transducer and activator of transcription 5.1.
GHR nuclear translocation is associated with muscle cell proliferation in zebrafish.
Effects of somatotrophic axis (GH/GHR) double transgenesis on structural and molecular aspects of the zebrafish immune system
Hypertrophy and hyperplasia follow two different routes for muscle growth, both of them triggered by GHR activation.
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.
, growth hormone binding protein
, serum binding protein
, somatotropin receptor
, Growth hormone receptor precursor (GH receptor) (GH binding protein) (GHBP) (Serum binding protein)
, growth hormone receptor/binding protein
, growth hormone receptor precursor splice variant D56
, growth hormone receptor variant d5-6
, growth hormone receptor
, growth hormone-binding protein
, serum-binding protein
, Somatotropin receptor