gene variant
The methylenetetrahydrofolate reductase gene variant C677T influences susceptibility to migraine with aura
... MTHFR gene has been localised to chromo- some 1p36 and consists of 11 exons spanning ~17 kb ...MTHFR gene variant (C677T) alters the amino acid sequence, substituting alanine (Ala) for valine (Val) ...
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TOLLIP gene variant is associated with Plasmodium vivax malaria in the Brazilian Amazon
... The role played by the TLR pathway in keeping in check parasite multiplication in animal models and the suggestion that TOLLIP gene may downregulate TLR-2 and, TLR-4 lead us to hypothesize that variants of the ...
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A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
... SFTPA: Gene for surfactant, pulmonary- associated protein A; SFTPB: Gene for surfactant, pulmonary-associated protein B; SFTPC: Gene for surfactant, pulmonary-associated protein C; SP: ...
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Functional and genotypic study of add1 gene variant associated with hypertensive population in punjab
... ADD1can be considered as a ‘renal hypertensive gene’. Abnormalities in renal sodium reabsorption may be involved in the development and maintenance of experimental and clinical hypertension (P. Manuta 1999). ...
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Association of <em>PPARγ2</em> gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous
... revealed gene–nutrient interaction via the PPAR γ locus, suggesting a greater BMI in Ala carriers when the dietary polyunsaturated fat-to-saturated fat ratio Table 4 Distribution of the frequency of Pro12Ala ...
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SETD5 gene variant associated with mild intellectual disability - a case report.
... A>AC variant (or alternatively, ...SETD5 gene (set domain- containing protein 5, OMIM #615743), and causing the substitution of a serine at position 1286 for leucine; This is a frameshift mutation that ...
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Coming to Grips with Evolvability
... a gene variant with the slightly different sequence, selection will result in accu- mulating gene variants conferring the better suited pheno- type and cause change at the population genetic ...a ...
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Association of the Cocaine- and Amphetamine-Regulated Transcript Prepropeptide Gene (CARTPT) rs2239670 Variant with Obesity among Kampar Health Clinic Patrons, Malaysia
... rs2239670 variant has shown a positive association with alcoholism in the Korean population (14), and because substance abuse and obesity share a common neurobiological basis (17), we sought to investigate the ...
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Genetic variants of Anaplasma phagocytophilum from 14 equine granulocytic anaplasmosis cases
... phagocytophilum variant pathogenic for cattle (formerly ...ankA gene in ...rRNA gene was par- tially amplified and sequenced to gain a general overview of the genetic variety ...rRNA gene ...
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Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review
... A positive Epstein Barr virus test in the proband point to- wards a failure of immune system in protecting against EBV infection, due to an elimination of EBV-infected B lymphocytes by defective Helper T cells [28] which ...
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Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome
... ) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to ...this gene has been identified in individuals with ASC and single nucleotide ...
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Association Between aquaporin-1 and Endurance Performance: A Systematic Review
... Background: There is abundant and mounting information related to the molecular and biological structure and function of the Aquaporin-1 (AQP1) gene and the AQP1-Aquaporin channel. Regulation of water flow across ...
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Study of Akt1 Gene Intronic Variant in Chronic Myeloid Leukemia
... of gene-environment interaction and genotype-phenotype correlation especially with respect to CML susceptibility genes would enable to identify the risk genotypes and develop appropriate treatment ...
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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
... PTH1R gene (Fig. 4). This variant is classi- fied as pathogenic since it results in the production of a truncated protein, lacking all 7 transmembrane domains and the intracellular ...patient’s ...
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A functional variant in the UBE2B gene promoter is associated with idiopathic azoospermia
... Studies have identified several alternatively spliced transcripts encoding SP1 isoforms that display stage and cell-type-specific expression profiles in differentiating germ cells of the seminiferous epithelium in the ...
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Nicotinamide-N-Methyltransferase gene rs694539 variant and migraine risk
... thr21met variant have been reported to be associated with migraine ...RAMP1 gene has been shown to be associated with migraine ...C7orf10 gene and rs13208321 in the FHL5 gene have been ...
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Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility
... 100 gene list clustered by kmeans and ranked by variable importance is depicted in Figure ...the gene expression data, where we focused on module 5 which was strongly correlated with PIK3CA (p = ...
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Rett syndrome: a wide clinical and autonomic picture
... the gene in 1999 [2], MECP2 mutations have been identified in 90–95 % of the Classical RTT cases, where, after a period of appar- ently normal neuropsychic development with some al- terations in the general ...
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Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses
... common variant analysis, the recessive and co-dominant models yielded some high odds ratio estimates but also wide con- fidence intervals (as expected, as these are the models with relatively low ...rare ...
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Merozoite surface protein 3α is a reliable marker for population genetic analysis of Plasmodium vivax
... A number of genes encoding for P. vivax MSPs have been identified, including Pvmsp-1 [8], Pvmsp-3 α , Pvmsp-3 β and Pvmsp-3 γ [12,15], Pvmsp-4 and Pvmsp-5 [16] and Pvmsp-9 [17]. Of these, Pvmsp-1 has been most ...
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