MULTIPLE GENE MUTATIONS IN GNAS1, FGF23 AND FGFR3 GENES IN CKD PATIENTS WITH SH SAGLIKER SYNDROME

53rd ERA-EDTA Congress -- MAY 21-24, 2016 -- Vienna, AUSTRIAWOS: 000376653802165…European Renal Assoc, European Dialysis & Transplant Asso

MULTIPLE GNAS1, FGF23, FGFR3 GENES' STRIKING MUTATIONS IN CKD PATIENTS WITH SH. NEW BONE DISPLASIA-HEREDITARY OSTEODISTROPHY AND UGLIFYING HUMAN FACE APPEARANCES. SAGLIKER SYNDROME

WOS: 000469797101123

NOVEL STRIKING MISMUTATIONS ON GNAS1, FGF23 AND FGFR3 GENES IN CKD WITH SECONDARY HYPERPARATHYROIDISM (SH) AND SAGLIKER SYNDROME (SS). SS IS ACOMBINATION-COMPULSION OF BONE DISPLASIAS-HEREDITARY OSTEODYSTROPHIES AND CKD

52nd Congress of the European-Renal-Association-European-Dialysis-and-Transplant-Assocation -- MAY 28-31, 2015 -- London, ENGLANDWOS: 000361215101406…European Renal Assoc, European Dialysis & Transplant Asso

STRIKING NOVEL MULTI- MISMUTATIONS ON GNAS1, FGF23 AND FGFR3 GENES IN CKD WITH SECONDARY HYPERPARATHYROIDISM(SH) . SAGLIKER SYNDROME(SS) . SS IS A COMBINATION -COMPULSION OF BONE DISPLASIAS-HEREDITARY OSTEODYSTROPHIES AND SH AND CKD

56th Congress of the European-Renal-Association (ERA)-European-Dialysis-and-Transplant-Association (EDTA) - Burden, Access and Disparities in Kidney Disease -- JUN 13-16, 2019 -- Budapest, HUNGARYWOS: 000495412900557…European Dialysis & Transplant Assoc, European Renal Asso

WHOLE 13 EXONS OF GNAS1 GENE IN SAGLIKER SYNDROME(SS). COMBINATION-COMPULSION OF BONE DYSPLASIAS-HEREDITARY OSTEODISTROPHIES(BD), CHRONIC KIDNEY DISEASES (CKD) AND SECONDARY HYPERPARATHYROIDISM(SH)

52nd Congress of the European-Renal-Association-European-Dialysis-and-Transplant-Assocation -- MAY 28-31, 2015 -- London, ENGLANDWOS: 000361215100479…European Renal Assoc, European Dialysis & Transplant Asso

The Role of Rat Hypothalamus Kisspeptin, Neurokinin and their respective Receptors in the Prolactin-Infertility Interaction

WOS: 000485922402049

Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma

Objectives: Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma. Materials and Methods: In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes. Results: Among control patients, the ESR1 PvuII genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 PvuII allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 PvuII genotypes there were not any significant difference in terms of genotype (P = 0.199) and allele (P = 0.181) frequencies . Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype (P = 0.111) and allele (P = 0.093) frequencies. But the C/C genotype of the PvuII site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene, there was not any significant difference in terms of genotype (P = 0.843) and allele (P = 0.991) frequencies . But the G/A genotype of the COMT gene had a weak tendency toward increased risk. Conclusion: Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma