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Functional characterization of genetic polymorphisms identified in the human cytochrome P450 4F12 (CYP4F12) promoter region

Biochemical Pharmacology, 2004
The human cytochrome CYP4F12 has been shown to be active toward inflammatory mediators and exogenous compounds such as antihistaminic drugs. In the present study, we report the first investigation of polymorphisms in the human CYP4F12 gene. A screening for sequence variations in the 5'-flanking region was performed by a Polymerase Chain Reaction-Single
Christelle, Cauffiez   +12 more
openaire   +3 more sources

Identification and genetic effect of haplotypes in the promoter region of porcine myostatin gene.

Animal genetics, 2011
Myostatin plays a pivotal role in controlling skeletal muscle mass in mammals. Polymorphisms in its promoter region likely impact on transcription and production traits. In this study, haplotypes involving three polymorphic sites in the promoter region of the porcine myostatin gene, namely at sites 435, 447 and 879, were identified and their effect on ...
D, Liu   +6 more
openaire   +2 more sources

Functional Characterization of Genetic Polymorphisms Identified in the Promoter Region of the Xanthine Oxidase Gene

Drug Metabolism and Pharmacokinetics, 2010
Xanthine oxidase (XO) catalyzes the oxidation of endogenous and exogenous purines and pyrimidines. In the present study, we investigated polymorphisms in the promoter region of the XO gene. Sequence variations in the 5'-flanking region were screened using denaturing high-performance liquid chromatography (DHPLC) on DNA samples from 196 unrelated ...
Mutsumi, Kudo   +4 more
openaire   +2 more sources

Primary biliary cirrhosis shows association with genetic polymorphism of tumour necrosis factor alpha promoter region

Journal of Hepatology, 1999
Primary biliary cirrhosis is an autoimmune disease in which increased prevalence in first-degree relatives and an association with HLA DR8 suggest a genetic background. TNFalpha is a mediator of inflammation and immunity, and is implicated in the pathogenesis of primary biliary cirrhosis, ex vivo studies having shown reduced production of TNFalpha by ...
M A, Gordon   +5 more
openaire   +2 more sources

Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets

American Journal of Medical Genetics, 1999
The human serotonin transporter (5-HTT), encoded by a single gene on chromosome 17q11.2, is expressed in brain and blood cells. 5-HTT is implicated in mood and anxiety regulation, and is where antidepressant and antianxiety drugs initially act in the brain.
B D, Greenberg   +5 more
openaire   +2 more sources

A Genetic Variant in the Promoter Region of Toll-Like Receptor 9 and Cervical Cancer Susceptibility

DNA and Cell Biology, 2012
The Toll-like receptors (TLRs) are important for the innate immune system by recognizing pathogen-associated molecular patterns expressed in infectious agents. E6 and E7 protein from HPV16 suppress the host immune response by regulating the TLR9 transcript.
Xiaojun, Chen   +9 more
openaire   +2 more sources

[Relationship between genetic polymorphism of promoter region let-7 and genetic susceptibility to hepatocellular carcinoma].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine], 2013
The purpose of this study was to discuss the relationship between genetic polymorphism of promoter region let-7 and genetic susceptibility to hepatocellular carcinoma (HCC) in Chinese population.In this case-control study, 1300 cases of HBV positive patients were recruited in case group and another 1344 cases of persistent chronic HBV carriers were ...
Fang, Huang   +4 more
openaire   +1 more source

Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples

Environmental Toxicology and Pharmacology, 2014
The purpose of this study was to determine the interethnic differences of four CYP1A2 drug metabolizing enzyme variants. A total of 404 Roma and 396 Hungarian healthy subjects were genotyped for -163C>A, -729C>T, -2467delT and -3860G>A variants of CYP1A2 by RT-PCR and PCR-RFLP technique.
Renata, Szalai   +7 more
openaire   +2 more sources

Genetic association between interleukin-10 gene promoter region polymorphisms and type 1 diabetes age-at-onset

Human Immunology, 2002
This study investigated whether interleukin-10 (IL-10) gene promoter region polymorphisms are associated with susceptibility to or clinical presentation of type 1 diabetes. The frequency of -1082G/A, -819C/T, and -592C/A polymorphisms was analyzed in 128 Japanese patients with type 1 diabetes and in 107 healthy control subjects in a case-controlled ...
Akane, Ide   +13 more
openaire   +2 more sources

New intragenic and promoter region deletion mutations inFERMT1underscore genetic homogeneity in Kindler syndrome

Clinical and Experimental Dermatology, 2014
Kindler syndrome (KS) is a rare autosomal recessive skin disorder, which was recently reclassified as a subtype of epidermolysis bullosa. Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations ...
Fuchs-Telem, D   +5 more
openaire   +3 more sources

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