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Genes (17)
Species: human : 17 | |
Human | PRX | 57716 | periaxin | S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease | Human | GHRL | 51738 | ghrelin/obestatin prepropeptide | lowered serum levels of ghrelin in active acromegaly rise with postsurgery normalization of growth hormone and insulin-like growth factor-I and improved insulin resistance but long-acting octreotide therapy persistently suppressed serum ghrelin levels patients with active acromegaly show low levels of circulating ghrelin that are not further reduced by oral glucose tolerance test | Human | RAB18 | 22931 | RAB18, member RAS oncogene family | Rab18 is reduced in pituitary tumors causing acromegaly and its overexpression reverts growth hormone hypersecretion | Human | AIP | 9049 | aryl hydrocarbon receptor interacting protein | identification of a novel AIP mutation in a family with acromegaly, which further validates the role of this gene in human pituitary tumor predisposition A tumor-suppressor role for AIP and its involvement in familial acromegaly | Human | SSTR5 | 6755 | somatostatin receptor 5 | role for SSTR5 t-461c and c1004t alleles in influencing GH and IGF-I levels in patients with acromegaly, whereas SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs Title:Analysis of somatostatin receptors 2 and 5 polymorphisms in patients with acromegaly.|Association:Not Found|Conclusion:These data suggest a role for SSTR5 t-461c and c1004t alleles in influencing GH and IGF-I levels in patients with acromegaly, whereas SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs. | Human | SSTR2 | 6752 | somatostatin receptor 2 | SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs in acromegaly Title:Analysis of somatostatin receptors 2 and 5 polymorphisms in patients with acromegaly.|Association:Not Found|Conclusion:These data suggest a role for SSTR5 t-461c and c1004t alleles in influencing GH and IGF-I levels in patients with acromegaly, whereas SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs. | Human | PRKAR1A | 5573 | protein kinase, cAMP-dependent, regulatory, type I, alpha | | Human | NPPB | 4879 | natriuretic peptide B | An inverse significant relationship between IGF-I and both brain natriuretic peptide (BNP) and amino-terminal propeptide of procollagen type III (P-III-P) value in surgically treated acromegaly patients was observed | Human | INS | 3630 | insulin | An increase in fasting insulin levels is associated with an 8.6- to 14.8-fold increased risk of presenting with colonic adenomas in acromegaly | Human | IGFBP3 | 3486 | insulin-like growth factor binding protein 3 | Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly | Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | Pituitary gamma-knife surgery in acromegaly is effective in lowering serum IGF-I to normal levels | Human | GNAS | 2778 | GNAS complex locus | GSPalpha mutations have a role in progression of acromegaly in Mexican patients | Human | GHRHR | 2692 | growth hormone releasing hormone receptor | an examination of the possible clinical significance of a polymorphism in the gene of this receptor: involvement in acromegaly | Human | GHR | 2690 | growth hormone receptor | The GHR fl/d3 genotype modulates the relationship between GH and IGF-1 concentrations in patients presenting with acromegaly | Human | GH1 | 2688 | growth hormone 1 | Systolic function, assessed by left ventricular ejection fraction, tends to be lower in patients with growth hormone deficiency compared with patients with biochemical remission, but is higher when compared with active acromegaly mechanistic link between GH's actions and glomerular dysfunction in disorders such as acromegaly and diabetic glomerulosclerosis | Human | CYP11B2 | 1585 | cytochrome P450, family 11, subfamily B, polypeptide 2 | Association of the -344T/C CYP11B2 gene polymorphism with blood pressure in patients affected by acromegaly | Human | CDKN1B | 1027 | cyclin-dependent kinase inhibitor 1B (p27, Kip1) | |
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