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Polymorphism - Articles

Angiotensin-converting enzyme in systemic sclerosis: from endothelial injury to a genetic polymorphism. by Jan Posted Fri 11 Sep 2009 4:55pm ) polymorphism, consisting of the presence or absence of a 287-base pair Alu sequence, has been identified. This polymorphism has been related to ACE enzyme levels, and data from experimental studies reported a functional role for this polymorphism in modulating the angiotensin II levels. We previously documented a high ACE D allele frequency in SSc patients Read on »
Genetic polymorphisms of CYP2D6 oxidation in patients with systemic sclerosis by Jan Posted Tue 16 Feb 2010 12:00am with the evaluation of the genetically determined polymorphism of CYP2D6, one of the phase I drug metabolizing isoenzymes, in patients suffering from SSc. Usefulness of the CYP2D6 genotype... polymorphism was performed with the PCR-RFLP method. RESULTS: Relative risk of SSc development for particular genotype carriers expressed by the odds ratio (OR) was statistically Read on »
Genetic Polymorphisms Of Interleukin-1 Alpha And Beta Associated With Early Onset Periodontitis by nih.gov Posted Wed 30 Sep 1998 5:00pm having a major impact on the dental health of 400,000 individuals in the U.S. population. Discovery of genetic polymorphisms at the interleukin 1 alpha and 1 beta genes Read on »
Headliners: Genetic Research: Polymorphisms Modify Breast Cancer Risk in Smokers by Environmental Health Posted Tue 31 Oct 2006 9:00pm Headliners: Genetic Research: Polymorphisms Modify Breast Cancer Risk in Smokers Formal Correction... Citation: Phelps J 2006. Headliners: Genetic Research: Polymorphisms Modify Breast Cancer Risk in Smokers. Environ Health Perspect 114:A642-A642. doi:10.1289/ehp.114-a642 Read on »
Oxygen free radical scavenger enzyme polymorphisms in systemic sclerosis by Jan Posted Fri 11 Sep 2009 4:56pm Research byTikly M. and Colleague We performed a case-control study of polymorphisms of glutathione S-transferase (GST) isoenzymes and manganese superoxide dismutase... in the diffuse cutaneous SSc subset compared with controls (OR=2.11 and 3.15, respectively, p(corr) <.1). Our findings provide new data on the distribution of GST and MnSOD polymorphisms Read on »
Oxygen free radical scavenger enzyme polymorphisms in systemic sclerosis. by Jan Posted Fri 11 Sep 2009 4:59pm By Tikly M. and Colleague We performed a case-control study of polymorphisms of glutathione S-transferase (GST) isoenzymes and manganese superoxide dismutase (MnSOD... in the diffuse cutaneous SSc subset compared with controls (OR=2.11 and 3.15, respectively, p(corr) <.1). Our findings provide new data on the distribution of GST and MnSOD polymorphisms Read on »
Macrophage migration inhibitory factor promoter polymorphisms and the clinical expression of scleroderma by Jan Posted Tue 08 Dec 2009 12:00am By Sou-Pan Wu and Colleague Objective To investigate the potential association between functional polymorphisms in the gene for the innate mediator, macrophage... and sex subsets. Significant relationships were determined between clinical variables and MIF polymorphisms for each disease subtype in the studied groups. Results Read on »
Association Between a CTGF Gene Polymorphism and Systemic Sclerosis in a French Population. by Jan Posted Wed 20 Jan 2010 12:00am polymorphisms (SNP) in the CTGF gene and scleroderma in a French population (registration number 2006/0182). METHODS: We conducted a case-control study with 241 scleroderma... the rs9399005 polymorphism in its 3'UTR region. In silico analysis indicated that this polymorphism may alter the structure of CTGF messenger RNA. CONCLUSION: These findings Read on »
Methods and Materials for Identifying Polymorphic Variants, Diagnosing Susceptibilities, and Treating Disease by nih.gov Posted Sat 30 Jun 2007 5:00pm Description of Invention: This invention relates to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one... in the promotion of DNA synthesis, a process that is critical for normal placental and fetal development. Recently, the inventors have discovered that a MTHFD1 polymorphism is also Read on »
SGK1 Polymorphisms by Matt S. Posted Tue 10 Mar 2009 12:00am 4-2, which in the absence of SGK1 ubiquitinates and degrades ENac. How does this relate to human disease? It turns out that there is a common polymorphism within the SGK1 gene.... Carriers of this polymorphism are also prone to develop an elevated BMI and thus this appears to be a key gene regulating metabolic syndrome. Perhaps drugs targeting SGK1 Read on »