Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP55271.RAk16hNvE7gDT9ZuwRNKraEy7QhUgTMsZEb8-6wBiUmt4130_assertion description "[Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55271.RAk16hNvE7gDT9ZuwRNKraEy7QhUgTMsZEb8-6wBiUmt4130_provenance.
- NP55274.RAqtHMTtdL8iuwcMArwo1iE5Kkig__UYQCszRK5ga-yIw130_assertion description "[Overall, this study demonstrates the role of the PvuII polymorphism in the LPL gene to modulate the risk for diabetic macroangiopathy in patients with Type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55274.RAqtHMTtdL8iuwcMArwo1iE5Kkig__UYQCszRK5ga-yIw130_provenance.
- NP55276.RAswUszK7qiIFz43R2jRGf1WWMns8ScRb4qD7UbFVwmjc130_assertion description "[DNA from blood collected in 1989 was genotyped for 16 SNPs in 8 obesity-related genes: monoamine oxidase A (MAOA), lipoprotein lipase (LPL), paraoxonase 1 and 2 (PON1 and PON2), leptin receptor (LEPR), tumor necrosis factor-alpha (TNFalpha), and peroxisome proliferative activated receptor-gamma and -delta (PPARG and PPARD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55276.RAswUszK7qiIFz43R2jRGf1WWMns8ScRb4qD7UbFVwmjc130_provenance.
- NP55277.RAkiVMV3XOPb38IsWAMDMvCbVvhM7VrgUKP3uMrUUOTOg130_assertion description "[ESR-1, LPL, and APO E genetic polymorphic variants could represent predictive genetic risk markers for obesity-related metabolic disorders in young healthy subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55277.RAkiVMV3XOPb38IsWAMDMvCbVvhM7VrgUKP3uMrUUOTOg130_provenance.
- NP55278.RAmELiG-DUcruMohd3n0gmMWfWfEppgMXwNVHAci4K0sY130_assertion description "[Significant associations were found between carriers of the minor alleles of APOE-epsilon2, FABP2-A54T, UCP1-L229M, LPL-HindIII, LPL-S447X and LPL-T1973C, patients bearing a combination of LPL-D9N, LPL-N291S and LPL-P207L and obesity-related phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55278.RAmELiG-DUcruMohd3n0gmMWfWfEppgMXwNVHAci4K0sY130_provenance.
- NP55282.RAnJBmkgiuU0u1jomogE39ZlxR6IX2G-WzfLazzlUrv3M130_assertion description "[Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55282.RAnJBmkgiuU0u1jomogE39ZlxR6IX2G-WzfLazzlUrv3M130_provenance.
- NP55284.RAt92cAjhDJ14QviLxXo-JwPCTDAp1bkeOny1Ig0-nsog130_assertion description "[Polymorphisms of the human lipoprotein lipase gene: possible association with lipid levels in patients with coronary heart disease in Beijing area.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55284.RAt92cAjhDJ14QviLxXo-JwPCTDAp1bkeOny1Ig0-nsog130_provenance.
- NP55285.RAv0obZ02YGBhsstwRt_Np2TKLTEK_9kWWpBGUCxb5__4130_assertion description "[These data show that some single-nucleotide polymorphisms in the LPL gene among Chinese are associated with abnormal lipid and lipoprotein profiles and predisposition to coronary heart disease, a genetically heterogeneous complex disease, and that they are gender-specific.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55285.RAv0obZ02YGBhsstwRt_Np2TKLTEK_9kWWpBGUCxb5__4130_provenance.
- NP55291.RAvyo1nADP3oYal-6w5zQqc4xylkSrMjhXxfdx_t5ZVps130_assertion description "[among all the investigated polymorphisms only the 5709G and eNOS4a alleles seem to confer protection against MI in the young age of Sardinian people.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55291.RAvyo1nADP3oYal-6w5zQqc4xylkSrMjhXxfdx_t5ZVps130_provenance.
- NP55301.RArlmG2yBYF0CeBl9fHRbUpL11skR2nJXMi2s1-Dk9Aig130_assertion description "[Conversely, mutations in LMNA appear as a rare cause of isolated dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55301.RArlmG2yBYF0CeBl9fHRbUpL11skR2nJXMi2s1-Dk9Aig130_provenance.
- NP55304.RApbnFzUDJ5ifj7pQHDLHCFSIMloGVJJDCdaPR2JNR4o0130_assertion description "[ Variant MBL genotypes coding for markedly diminished levels of MBL are predictive of CAD. After adjustment for multiple traditional risk factors for ischemic heart disease, this association remains significant. A high prevalence of variant MBL alleles and CAD in this population suggests that potentially important public health benefits may accrue from future interventions based on these genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55304.RApbnFzUDJ5ifj7pQHDLHCFSIMloGVJJDCdaPR2JNR4o0130_provenance.
- NP55305.RArVpuDda19IMzSFPPnw3x7US7Ni_VkA9IJOc0xizdaM0130_assertion description "[These results suggest that MBL mutations which decrease the formation of functional MBL could protect against the clinical development of sporadic UC, but not of CD. This could be explained by the differential T-helper response in both diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55305.RArVpuDda19IMzSFPPnw3x7US7Ni_VkA9IJOc0xizdaM0130_provenance.
- NP55308.RAqI5AVHtngYZHdWRjJUlvZkb7qpR5dOSMdJEopCRKf8M130_assertion description "[The HSL C-60G polymorphism is associated with increased waist circumference in non-obese subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55308.RAqI5AVHtngYZHdWRjJUlvZkb7qpR5dOSMdJEopCRKf8M130_provenance.
- NP55309.RAo8yShN02BFfNyool7KubJ0edga2Od4e2htBAq2gWPnk130_assertion description "[These results suggest that the associations between physical activity and body fat and plasma lipoprotein/lipid concentrations in men are dependent on the LIPE C-60G polymorphism, and highlight the importance of taking into account the role of gene-physical activity interactions in candidate gene studies of obesity and obesity-related traits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55309.RAo8yShN02BFfNyool7KubJ0edga2Od4e2htBAq2gWPnk130_provenance.
- NP55310.RAjpGRDd8yga2uRBAAznsE_E-jBVqGkKylvDiamf5BqL0130_assertion description "[Association of lifestyle factors, polymorphisms in adiponectin, perilipin and hormone sensitive lipase, and clinical markers in Japanese males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55310.RAjpGRDd8yga2uRBAAznsE_E-jBVqGkKylvDiamf5BqL0130_provenance.
- NP55312.RAulpqWI65DD4y8l4gJcQiikRa-mjwCFrW2T3cY7BMbdc130_assertion description "[Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55312.RAulpqWI65DD4y8l4gJcQiikRa-mjwCFrW2T3cY7BMbdc130_provenance.
- NP55313.RAq5B-NRT1hoAYG7O-vJnR8eqbd7lmBtKBpq-CXFlu4xY130_assertion description "[Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55313.RAq5B-NRT1hoAYG7O-vJnR8eqbd7lmBtKBpq-CXFlu4xY130_provenance.
- NP55315.RAqXe2JovFjkVIkQYjQZg_RRUzLuh2ESGyg2lO2IilS5o130_assertion description "[Hepatic lipase gene variation is related to coronary reactivity in healthy young men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55315.RAqXe2JovFjkVIkQYjQZg_RRUzLuh2ESGyg2lO2IilS5o130_provenance.
- NP55323.RAlQD0Go3K2nrOywnEiXYLPkZ_U4DVock01dGY3y0lwZk130_assertion description "[Hepatic lipase C514T polymorphism and its relationship with plasma HDL-C levels and coronary artery disease in Koreans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55323.RAlQD0Go3K2nrOywnEiXYLPkZ_U4DVock01dGY3y0lwZk130_provenance.
- NP55329.RAlwXb4curQicvzMf-eCom7wchvf5vlxP7Xer_cmoGUww130_assertion description "[Thus, our results show that the -250G/A polymorphism in the HL gene is associated with significant variations in HDL-C levels and CAD risk in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55329.RAlwXb4curQicvzMf-eCom7wchvf5vlxP7Xer_cmoGUww130_provenance.
- NP55330.RAtrdQ7CSPATe0cVxgQuhdd1WF4twOXHSk1-gbqAjy6IA130_assertion description "[The prevalence of the G+884 allele was significantly higher in the CAD patients than that in control subjects (31.4% vs. 21.3%, chi(2) =4.652, df=1, P=0.031). Data from the linkage disequilibrium analysis showed that the A(+884)-->G polymorphism was strong in linkage disequilibrium with the T(-2)-->C variation we identified previously(D'=0.699, 0.742 in CAD patients and controls, respectively), and the frequency of the C(-2)/G(+884) haplotype (mutation) is significantly higher in CAD patients than that in controls (0.253 vs. 0.172, P<0.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55330.RAtrdQ7CSPATe0cVxgQuhdd1WF4twOXHSk1-gbqAjy6IA130_provenance.
- NP55339.RAi5Dk1YeHt6cla9vF1Ry9ijVH03lvTcNsF8cakOke0rA130_assertion description "[Phenotype-genotype interactions on renal function in type 2 diabetes: an analysis using structural equation modelling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55339.RAi5Dk1YeHt6cla9vF1Ry9ijVH03lvTcNsF8cakOke0rA130_provenance.
- NP55341.RAljSpWuzCffsQ9nK-EZoz6Zf77UQUk0Hhus7tdU7A4Ds130_assertion description "[Adding SNPs previously associated with fasting glucose, insulin, lipids or obesity to a genetic risk score for type 2 diabetes significantly increases the power to discriminate between people with and without clinically manifest type 2 diabetes compared with a model including only conventional type 2 diabetes loci.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55341.RAljSpWuzCffsQ9nK-EZoz6Zf77UQUk0Hhus7tdU7A4Ds130_provenance.
- NP55346.RAgaequiublOw_LPfvfMUIS3ZNWBRZbbh6cecJhlVk19I130_assertion description "[We identified a cluster of polymorphisms in APOE, SOAT1, APOE 5'-untranslated region, OLR1, CYP46A1, LPL, LIPA, and APOA4 conferring significant (p = .0002) susceptibility for Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55346.RAgaequiublOw_LPfvfMUIS3ZNWBRZbbh6cecJhlVk19I130_provenance.
- NP55348.RAq2aYj-o4PEYyh4B2IuHw51ikMt20Wsn1NM58KTuqoYY130_assertion description "[Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55348.RAq2aYj-o4PEYyh4B2IuHw51ikMt20Wsn1NM58KTuqoYY130_provenance.
- NP55350.RAtLD-tlg9eXhx17BhM2cBJd5mAYAVk_MpLlXYmZ6W9a8130_assertion description "[Because BRCA1 is a well-documented breast cancer susceptibility gene, this association between NHEJ and BRCA1 not only suggests a role of BRCA1 in NHEJ but also provides essential support for the tumorigenic contribution of NHEJ in breast cancer development..]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55350.RAtLD-tlg9eXhx17BhM2cBJd5mAYAVk_MpLlXYmZ6W9a8130_provenance.
- NP55351.RAgadL4Zovj7WCa1RSqOp4D5wqkdXRI4LUec16heqo010130_assertion description "[ Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55351.RAgadL4Zovj7WCa1RSqOp4D5wqkdXRI4LUec16heqo010130_provenance.
- NP55358.RApj9HYg7cTR9UpS7x43X4Q1GAKHoi5fNLYBJ-y97mfvU130_assertion description "[A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55358.RApj9HYg7cTR9UpS7x43X4Q1GAKHoi5fNLYBJ-y97mfvU130_provenance.
- NP55359.RAsqhOOkPhMi0YsU_mEeRNjlUA7_T5DTI6-LOQmloia6c130_assertion description "[The present results suggest that these 4 SNPs function as genetic factors underlying lung cancer susceptibility by modulating activities to maintain the genome integrity of each individual.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55359.RAsqhOOkPhMi0YsU_mEeRNjlUA7_T5DTI6-LOQmloia6c130_provenance.
- NP55360.RAqiB6t52EuxJOLtuX7SugaGy2Nj7YjwfbYUvHV_0RKms130_assertion description "[XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55360.RAqiB6t52EuxJOLtuX7SugaGy2Nj7YjwfbYUvHV_0RKms130_provenance.
- NP55375.RAhQDkxskHMp_ST3mDrD7YSHynH2P5ASv2dIM60Pb0zy0130_assertion description "[Single-nucleotide polymorphisms within the BAT1-NFKBIL1-LTA genomic region (6p21.3) and the LGALS2 gene (22q13.1), encoding a regulator for lymphotoxin-alpha, the product of the LTA gene, have been reported to be linked with the risk of myocardial infarction in Japanese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55375.RAhQDkxskHMp_ST3mDrD7YSHynH2P5ASv2dIM60Pb0zy0130_provenance.
- NP55380.RAuuSIYSCPCuQuhA_skQfoMWJ7-0Y_A-oFTn6_6sa_lUw130_assertion description "[In obese patients, serum leptin concentration shows an independent inverse correlation with BMD and male sex, but positively with TFM and the presence of -2548A allele of leptin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55380.RAuuSIYSCPCuQuhA_skQfoMWJ7-0Y_A-oFTn6_6sa_lUw130_provenance.
- NP55384.RAqgnDAtD8vrqgnNsSXdVHdMIShBGy9yGEjCad0QyebR0130_assertion description "[We aimed to investigate whether polymorphisms LEP G-2548A and LEPR Q223R in the human leptin (LEP), and leptin receptor (LEPR) genes are associated with obesity and metabolic traits in a sample of Romanian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55384.RAqgnDAtD8vrqgnNsSXdVHdMIShBGy9yGEjCad0QyebR0130_provenance.
- NP55387.RAl08Skef-X4RhyHyz_17uCPzsJxrE73pRgr-Iq9CiZV8130_assertion description "[Taken together, the results of our study show that the LEPR Q223R polymorphism may be associated with obesity in women with a psychotic disorder treated with atypical antipsychotic drugs and stress the importance of stratification for gender when investigating the role of variations of the LEP- and LEPR genes on the metabolic side effects of antipsychotic medications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55387.RAl08Skef-X4RhyHyz_17uCPzsJxrE73pRgr-Iq9CiZV8130_provenance.
- NP55390.RAtYYCBb_WbdNCBv_mAujBAYEG9WCBRMXUTr7skVXFjIM130_assertion description "[Is there any link between severe pre-eclampsia and defined polymorphisms in leptin and adiponectin genes?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55390.RAtYYCBb_WbdNCBv_mAujBAYEG9WCBRMXUTr7skVXFjIM130_provenance.
- NP55391.RAqxsfXkVso1cWXhE-5eioKHfR7KMdPmAcxgfQTwDVNcU130_assertion description "[Specifically, among those with LEPR 223RR, the risk estimate for NHL was increased in LEP -2548GA (OR = 1.7, CI 0.88-3.1) and LEP -2548AA (OR = 2.3,CI 1.1-4.6) relative to LEP -2548GG genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55391.RAqxsfXkVso1cWXhE-5eioKHfR7KMdPmAcxgfQTwDVNcU130_provenance.
- NP55396.RApoaidkoCpnZlEdaBpX_gZldBX62cGIuefTv3fWIWIus130_assertion description "[These data together with recent functional data on the direct effect of leptin on blood pressure suggest that the leptin gene and its product, leptin, are an attractive target for studies on the mechanisms of hypertension and for the development of methods for the prediction, prevention, and therapy for hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55396.RApoaidkoCpnZlEdaBpX_gZldBX62cGIuefTv3fWIWIus130_provenance.
- NP55397.RAtPT1TzQQsPB7G_nYWCmFvbTRjT4Iggi5i4f_L1wtZoI130_assertion description "[Leptin is associated with blood pressure and hypertension in women from the National Heart, Lung, and Blood Institute Family Heart Study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55397.RAtPT1TzQQsPB7G_nYWCmFvbTRjT4Iggi5i4f_L1wtZoI130_provenance.
- NP55400.RAldhgYh0_4DV2n8ZiftxSZXEtcULcCi9m1H_8lCDbZ7I130_assertion description "[Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55400.RAldhgYh0_4DV2n8ZiftxSZXEtcULcCi9m1H_8lCDbZ7I130_provenance.
- NP55402.RAneDlfGAaDoCzl_7f919NuLvxrAlQGAU6QfsLEjNHy9E130_assertion description "[Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55402.RAneDlfGAaDoCzl_7f919NuLvxrAlQGAU6QfsLEjNHy9E130_provenance.
- NP55406.RAptgYR_TiY2hgYUmOzO9SJY4SXjPoKOsSZu7Ns7hJqsQ130_assertion description "[Association of the G-2548A polymorphism in the 5' region of the LEP gene with overweight.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55406.RAptgYR_TiY2hgYUmOzO9SJY4SXjPoKOsSZu7Ns7hJqsQ130_provenance.
- NP55416.RAs83Fy6nFLIE5fRsb0I13OdBmWy2wIQPluPpi9fBFl4Q130_assertion description "[Familial hypercholesterolemia (FH) is a common single gene disorder, which predisposes to coronary artery disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55416.RAs83Fy6nFLIE5fRsb0I13OdBmWy2wIQPluPpi9fBFl4Q130_provenance.
- NP55417.RApduKn095wCvXxs_gy2CCKEDUVN7lXaD162ILt75BxgY130_assertion description "[The study population was actively recruited in a large-scale screening program for inherited hypercholesterolemia in which FH and FDB heterozygotes were diagnosed by standard molecular techniques.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55417.RApduKn095wCvXxs_gy2CCKEDUVN7lXaD162ILt75BxgY130_provenance.
- NP55419.RAg1w7-zHuSLDGVcXMwr2Z7Bg0xiptvQuRBNDBniimX2c130_assertion description "[The class of the LDLR mutation affected the LDL-C and apoB-lowering response of heterozygous FH patients to statin therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55419.RAg1w7-zHuSLDGVcXMwr2Z7Bg0xiptvQuRBNDBniimX2c130_provenance.
- NP55425.RAjDAyWANT95-vr-qiKyBEB0zs3p79PL8MxS6BDWLT8Ys130_assertion description "[Cluster analysis of risk factor genetic polymorphisms in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55425.RAjDAyWANT95-vr-qiKyBEB0zs3p79PL8MxS6BDWLT8Ys130_provenance.
- NP55426.RAjrr6f8oZP1VSNAfwOlCBEqYKIXJOAXNTqJ2I64ahoPc130_assertion description "[Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55426.RAjrr6f8oZP1VSNAfwOlCBEqYKIXJOAXNTqJ2I64ahoPc130_provenance.
- NP55428.RAs3KoeUCnjJex4uLbh4yP61qdrOhE8OSqlvdIDFDQXXM130_assertion description "[Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55428.RAs3KoeUCnjJex4uLbh4yP61qdrOhE8OSqlvdIDFDQXXM130_provenance.
- NP55433.RAvjz_U9gXOlD5NOlQyNBsBZe2g1acYNQhgHY0xh3cjSw130_assertion description "[We therefore studied genetic variation within the LDLR gene and clinical features of hepatitis C infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55433.RAvjz_U9gXOlD5NOlQyNBsBZe2g1acYNQhgHY0xh3cjSw130_provenance.
- NP55434.RAmZ6quLcVT8rK_yngwkS5cMokScNatWgjenSdV_EJPLI130_assertion description "[ The carriers of epsilon 3, epsilon 4 or AvaII(+) alleles would have higher risk of suffering from CHD if they are drink alcohol or smoke heavily.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55434.RAmZ6quLcVT8rK_yngwkS5cMokScNatWgjenSdV_EJPLI130_provenance.
- NP55435.RAiodE4ohoV7hHoo2ojS0pqdaV8Ug6isejc_068jMmmWk130_assertion description "[In FH subjects aged over 35 years from a Southern European population, MI is associated with age, plasma TC and LDLc values, TC/HDLc ratio and the *4 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55435.RAiodE4ohoV7hHoo2ojS0pqdaV8Ug6isejc_068jMmmWk130_provenance.
- NP55437.RAsZJV5HaMp-qkSVG61bjGMzzlds3eGYdaLCF4rzFVDBc130_assertion description "[To investigate the AvaII polymorphism of low density lipoprotein receptor gene in both health and essential hypertension populations, and to evaluate the association of AvaII polymorphism with level of blood lipid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55437.RAsZJV5HaMp-qkSVG61bjGMzzlds3eGYdaLCF4rzFVDBc130_provenance.
- NP55439.RAvadx7gP0pN2o-rOavfYsvid8svkEaBlgehJYNPX1Avg130_assertion description "[Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55439.RAvadx7gP0pN2o-rOavfYsvid8svkEaBlgehJYNPX1Avg130_provenance.
- NP55441.RAkqP59QScHpFPg32F5YyWZyrSR5YpCJRZEngkc9mXrZM130_assertion description "[Twenty five mutations were identified in 35 patients in total. Of these, we were able to detect only 64% of mutations by SSCP even though all variants were detected by DHPLC. All patients are heterozygous for the mutations, which is consistent with the clinical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55441.RAkqP59QScHpFPg32F5YyWZyrSR5YpCJRZEngkc9mXrZM130_provenance.
- NP55443.RArK8jQ7VWovtN4NVeUsAxwZX39Eq4whtA0dxbloGAUB0130_assertion description "[A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55443.RArK8jQ7VWovtN4NVeUsAxwZX39Eq4whtA0dxbloGAUB0130_provenance.
- NP55449.RAlx3gG_1d4j8q06P7kkfzAY8JKfO3IovUmO9vkk7Le2A130_assertion description "[Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55449.RAlx3gG_1d4j8q06P7kkfzAY8JKfO3IovUmO9vkk7Le2A130_provenance.
- NP55455.RAlqBuDZE_CwF_rxJW0rbKsj9ZuEwnFfM53wF9zha-Llg130_assertion description "[The present results suggest that a particular population such as lumberjacks, sharing the same environment, could help target genes involved in complex traits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55455.RAlqBuDZE_CwF_rxJW0rbKsj9ZuEwnFfM53wF9zha-Llg130_provenance.
- NP55457.RAloeGbzr7GfI8MKzszo72rQULeCPkLMTNQdPnmb4LZSI130_assertion description "[An intronic single nucleotide polymorphism in ABCA1 and the APOE epsilon3 allele are associated with reduced LDLc lowering by statins and identify individuals who may be resistant to maximal LDLc lowering by statins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55457.RAloeGbzr7GfI8MKzszo72rQULeCPkLMTNQdPnmb4LZSI130_provenance.
- NP55460.RAlM4pk0P4hOjTeiGXi9qcXh_7frldteSgPfodvZMVINc130_assertion description "[In order to identify genetic factors that might predispose individuals to these alterations in ventilatory response, we conducted single stranded conformation polymorphism analysis across the exons of the lactate dehydrogenase A and B genes (LDHA and LDHB) using DNA prepared from 86 subjects previously characterized by respiratory response to a CO(2) challenge with a variable genetic loading for PD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55460.RAlM4pk0P4hOjTeiGXi9qcXh_7frldteSgPfodvZMVINc130_provenance.
- NP55461.RAjPeXM0RhH9eoLIK2WfK4DhL17GYLqYM-_egWRQRGTPQ130_assertion description "[ Low lactase enzyme activity, defined by genotyping of the C/T(-13910) variant, may increase the risk of colorectal cancer. Further studies are warranted to investigate the role of milk and other dairy products in the pathogenesis of colon cancer in different populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55461.RAjPeXM0RhH9eoLIK2WfK4DhL17GYLqYM-_egWRQRGTPQ130_provenance.
- NP55467.RAsQ9zgzeBIR13A2SrExSAIwfnYmk-cp-GOnj9JeCjG3Y130_assertion description "[A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55467.RAsQ9zgzeBIR13A2SrExSAIwfnYmk-cp-GOnj9JeCjG3Y130_provenance.
- NP55471.RAqc-Ur3TpMqPJupz38tEoQtKRkeZ-EoY3XzaMXGfmDgk130_assertion description "[Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55471.RAqc-Ur3TpMqPJupz38tEoQtKRkeZ-EoY3XzaMXGfmDgk130_provenance.
- NP55480.RAk4j6h3U1g6b879LLt_LH1MWCV3UJKfTdEU6JVOjekjw130_assertion description "[Association evaluation by Fisher's exact test (p < 0.01) revealed statistically significant SNPs in multiple genes, not only in inflammatory mediators (IL6ST and PTGDS, associated with aggressive periodontitis; and CTSD, associated with severe chronic periodontitis), but also in structural factors of periodontal tissues (COL4A1, COL1A1, and KRT23, associated with aggressive periodontitis; and HSPG2, COL17A1, and EGF, associated with severe chronic periodontitis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55480.RAk4j6h3U1g6b879LLt_LH1MWCV3UJKfTdEU6JVOjekjw130_provenance.
- NP55481.RAiv7sIU_UBoiVjfAwxfPXoXdFRYu-yz24OI_LdjGQBwE130_assertion description "[A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55481.RAiv7sIU_UBoiVjfAwxfPXoXdFRYu-yz24OI_LdjGQBwE130_provenance.
- NP55487.RAh5kgXkTb9EDHc9CDNY7kxRp2BGRecKCynGsdGi74RT8130_assertion description "[To further investigate this, we evaluated the relationship between prostate cancer and multiple potentially functional polymorphisms in three genes involved in androgen metabolism: CYP1B1 (two single nucleotide polymorphisms: 355G/T and 4326C/G), prostate-specific antigen (PSA/KLK3 (three single nucleotide polymorphisms: -158A/G, -4643G/A, and -5412C/T), and CYP11alpha (tttta)(n) repeat, using a moderately large (n = 918) sibling-based case-control population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55487.RAh5kgXkTb9EDHc9CDNY7kxRp2BGRecKCynGsdGi74RT8130_provenance.
- NP55489.RAjiJ5idt2KbXfQbnNQNPKLZMTkAHrnVxWKKd6P7Np0WA130_assertion description "[This study provides more stable OR estimates for PCa risk-associated SNPs, which is an important baseline for the effect of these SNPs in risk prediction. These SNPs explain a considerable proportion of genetic variance, however, the majority of genetic variance has yet to be explained.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55489.RAjiJ5idt2KbXfQbnNQNPKLZMTkAHrnVxWKKd6P7Np0WA130_provenance.
- NP55496.RAq8dcEo2LOWw4MRBA6bys48QJ2FQEinL5LwAt11CfvM8130_assertion description "[Our results suggest that the presence of the A-AA allele at the PSA promoter region is associated with less aggressive forms of breast cancer and could be looked on as a favorable prognostic factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55496.RAq8dcEo2LOWw4MRBA6bys48QJ2FQEinL5LwAt11CfvM8130_provenance.
- NP55502.RAkZ7oFjNHtOcXsIazT8njt7cAxpEwRwJXG58LaThtLsM130_assertion description "[SNP genotyping can be used in a clinical setting for the early detection of prostate cancer in a nomogram approach and by improving the positive predictive value of the PSA test.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55502.RAkZ7oFjNHtOcXsIazT8njt7cAxpEwRwJXG58LaThtLsM130_provenance.
- NP55505.RAqhsrTdhuzKFFqq9H4fzXJey4WNXezR5qc4w92vW6Dc0130_assertion description "[We identified associations between prostate cancer susceptibility SNPs and clinical end points. The rs61752561 in KLK3 and rs2735839 in the KLK2-KLK3 intergenic region were strongly associated with prostate cancer-specific survival, and rs10486567 in the 7JAZF1 gene were associated with biochemical recurrence. A larger study will be required to independently validate these findings and determine the role of these SNPs in prognostic models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55505.RAqhsrTdhuzKFFqq9H4fzXJey4WNXezR5qc4w92vW6Dc0130_provenance.
- NP55514.RAjDe2BFwenM45hY6QLMxNr8EVvyLkv83uLYFFsy84wp4130_assertion description "[B2 receptor promoter polymorphism may represent a susceptibility marker for essential hypertension in African-Americans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55514.RAjDe2BFwenM45hY6QLMxNr8EVvyLkv83uLYFFsy84wp4130_provenance.
- NP55526.RAs0fNy0X0yRzzGbCTkFy1GQETWaHA2GZ7jVabcqrb7i4130_assertion description "[These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55526.RAs0fNy0X0yRzzGbCTkFy1GQETWaHA2GZ7jVabcqrb7i4130_provenance.
- NP55529.RAiEJpzexrjA0leKQ4whnwaeevtolH8Iq15sw0pDUCRc8130_assertion description "[These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55529.RAiEJpzexrjA0leKQ4whnwaeevtolH8Iq15sw0pDUCRc8130_provenance.
- NP55531.RAsnakWeUV0u2pva0Opghv55lxKPnf8E67RctoG91DkTk130_assertion description "[These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55531.RAsnakWeUV0u2pva0Opghv55lxKPnf8E67RctoG91DkTk130_provenance.
- NP55548.RAsaM3jrTC8B1-EcBUmglHy-KYwtaoAdVbpuoSD-r7QOE130_assertion description "[Interestingly, when the recipient KIR genotype was `included` in the donor KIR genotype, 100% (11/11 pairs) of unrelated BMT developed GVHD compared with 60% (18/30) in all other combinations (p = 0.012).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55548.RAsaM3jrTC8B1-EcBUmglHy-KYwtaoAdVbpuoSD-r7QOE130_provenance.
- NP55549.RAqPM5ILXpYy-FnEvC5b3Z9O5oNUF7DRUPHM2foyl57aw130_assertion description "[Donor-recipient combinations of group A and B KIR haplotypes and HLA class I ligand affect the outcome of HLA-matched, sibling donor hematopoietic cell transplantation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55549.RAqPM5ILXpYy-FnEvC5b3Z9O5oNUF7DRUPHM2foyl57aw130_provenance.
- NP55550.RAjRXLFYVCKEWyNM7wrrQjGvFKVMfnzgDUoraCJzse9Qc130_assertion description "[Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55550.RAjRXLFYVCKEWyNM7wrrQjGvFKVMfnzgDUoraCJzse9Qc130_provenance.
- NP55561.RAunMJw099BjKRh3nVsQ0lyBVJkh0Y_jEiyCqwhrbygvU130_assertion description "[It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55561.RAunMJw099BjKRh3nVsQ0lyBVJkh0Y_jEiyCqwhrbygvU130_provenance.
- NP55566.RAufgbn5y8q0Fkj2XVGhvtPEPEwQsiouJCba97HzPIRD4130_assertion description "[This study of multiple new markers in the region will facilitate further association studies in this important AD region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55566.RAufgbn5y8q0Fkj2XVGhvtPEPEwQsiouJCba97HzPIRD4130_provenance.
- NP55567.RAjxJXiNs2CaHIDvbEIUUT8_KAQb9on4-NrlsklbgX7Fs130_assertion description "[These results provide substantial evidence that genetic variation within or extremely close to IDE impacts both disease risk and traits related to the severity of AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55567.RAjxJXiNs2CaHIDvbEIUUT8_KAQb9on4-NrlsklbgX7Fs130_provenance.
- NP55570.RArnc6Yu_5FzsgaLhZ9wttrCefl5C_kc0mRHdkSLDPxMo130_assertion description "[Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55570.RArnc6Yu_5FzsgaLhZ9wttrCefl5C_kc0mRHdkSLDPxMo130_provenance.
- NP55574.RAoR9O3Z0m8qdnxluemH0TEUNbwjuk_f4ncREMGwYieiU130_assertion description "[These results both support a role of the KIAA0319 gene in the development of dyslexia and suggest that this gene influences reading ability in the general population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55574.RAoR9O3Z0m8qdnxluemH0TEUNbwjuk_f4ncREMGwYieiU130_provenance.
- NP55576.RAq3tBIqZs0boy3TSPT5XFQeSkv5qIw7v77m804RonVig130_assertion description "[T-STAR may not be a susceptibility gene for CAE in Chinese populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55576.RAq3tBIqZs0boy3TSPT5XFQeSkv5qIw7v77m804RonVig130_provenance.
- NP55579.RAuK5Lwr5Gk4QC7BuNEYeE5PIGFZpk1FhJ_8mtIw3Fj2c130_assertion description "[In this study a lower frequency for 1137-1140 Del homozygote of KCNN3 gene was observed, and the HHRR and TDT analyses suggested that the 1137-1140 Del alleles of KCNN3 gene be unlikely to confer susceptibility to schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55579.RAuK5Lwr5Gk4QC7BuNEYeE5PIGFZpk1FhJ_8mtIw3Fj2c130_provenance.
- NP55580.RAmFWBv5899n3b0KRSaesByJ_b_TEJtKZoRCJz54HXZAY130_assertion description "[In 1999 Cardno et al reported that long CAG repeats in the calcium-activated potassium channel gene hSKCa3/KCNN3 are associated with higher negative symptom dimension scores in schizophrenia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55580.RAmFWBv5899n3b0KRSaesByJ_b_TEJtKZoRCJz54HXZAY130_provenance.
- NP55582.RAsNGkyeWQMf1hv_2KrYLpoeaKvU4BLMCkRurhqWFdSVM130_assertion description "[Short CAG repeats within the hSKCa3 gene associated with schizophrenia: results of a family-based study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55582.RAsNGkyeWQMf1hv_2KrYLpoeaKvU4BLMCkRurhqWFdSVM130_provenance.
- NP55583.RAj9b1iRUt-ujK11amZfXCLGRUX_vhn3eKmI_QSG29qWk130_assertion description "[Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55583.RAj9b1iRUt-ujK11amZfXCLGRUX_vhn3eKmI_QSG29qWk130_provenance.
- NP55585.RAjX1VzGJkNmBv9dGarh1eyqbGnQv1Qi79BPB6p1J8tXo130_assertion description "[No association between the KCNH1, KCNJ10 and KCNN3 genes and schizophrenia in the Han Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55585.RAjX1VzGJkNmBv9dGarh1eyqbGnQv1Qi79BPB6p1J8tXo130_provenance.
- NP55589.RAi_pzLn_IEPgr4kM9TXhVQ4jjLwjDyH0XcNcZvS25SaA130_assertion description "[These have been used as control groups in a matched case-control analysis that has demonstrated a significant over-representation of KCNN3 alleles with longer CAG repeats among AN patients (P < 0.001 for the major allele and P = 0.035 for allele sum).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55589.RAi_pzLn_IEPgr4kM9TXhVQ4jjLwjDyH0XcNcZvS25SaA130_provenance.
- NP55590.RAnGJsQCOPJ8Mnd67A3zdvNJDgx71Hk_gjiKBsJxWsxcU130_assertion description "[Association between anorexia nervosa and the hsKCa3 gene: a family-based and case control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55590.RAnGJsQCOPJ8Mnd67A3zdvNJDgx71Hk_gjiKBsJxWsxcU130_provenance.
- NP55593.RAlpHry6xL1Bq1kdb2mqxyatGuL6HMc3JMuiQX6qJBv6w130_assertion description "[The KCNMB1 Glu65Lys polymorphism associates with reduced systolic and diastolic blood pressure in the Inter99 study of 5729 Danes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55593.RAlpHry6xL1Bq1kdb2mqxyatGuL6HMc3JMuiQX6qJBv6w130_provenance.
- NP55597.RAq1CuBmPUItMQVAT55qB29lvr69gBV7Y1URKrH5A5HpM130_assertion description "[Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55597.RAq1CuBmPUItMQVAT55qB29lvr69gBV7Y1URKrH5A5HpM130_provenance.
- NP55599.RAmIxNpwZnOKTMMoHGxW2wneZeKNfwKn3qgCiiyUWn44w130_assertion description "[The current study confirmed the association between PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 and type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55599.RAmIxNpwZnOKTMMoHGxW2wneZeKNfwKn3qgCiiyUWn44w130_provenance.
- NP55603.RAoSVAfyww8A9TRYg7LT9unv98ytkSVgY4Mjb3NvD1e9M130_assertion description "[The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with the therapeutic effect of repaglinide in patients with type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55603.RAoSVAfyww8A9TRYg7LT9unv98ytkSVgY4Mjb3NvD1e9M130_provenance.
- NP55606.RAgA3DrycsmsBoGJf9mm9dGVK20idkBHDVovOCpnZ_Fhw130_assertion description "[SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55606.RAgA3DrycsmsBoGJf9mm9dGVK20idkBHDVovOCpnZ_Fhw130_provenance.
- NP55611.RAvB3yW_0yp7B55juIePudrG-tfH5dFxQL7NbrBi7NGOA130_assertion description "[ Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55611.RAvB3yW_0yp7B55juIePudrG-tfH5dFxQL7NbrBi7NGOA130_provenance.
- NP55614.RAoA1jBgNbAe56vS-2m8kBrwixVShqYq6MUvlxar9EJVg130_assertion description "[QT hysteresis was more pronounced in patients with LQT2 mutations compared with LQT1 and LQT-negative patients (LQT2: 40 ms 10, LQT1: 15 ms 40; LQTS-negative: 20 ms 20; P<0.001).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55614.RAoA1jBgNbAe56vS-2m8kBrwixVShqYq6MUvlxar9EJVg130_provenance.
- NP55617.RAuXmv2owBSA59SvhePl8j9PU5aKmqZaU56DPzJgGZY60130_assertion description "[The purpose of this study was to investigate the effect of location, coding type, and topology of KCNH2(hERG) mutations on clinical phenotype in type 2 long QT syndrome (LQTS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55617.RAuXmv2owBSA59SvhePl8j9PU5aKmqZaU56DPzJgGZY60130_provenance.
- NP55619.RAvuKdFZi5pkOcAqfKSMMgE631btqb9yi2kcAkwLDxf-8130_assertion description "[Our family-based approach provides support that KCNH2 SNP K897T confers a protective effect on LQTS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55619.RAvuKdFZi5pkOcAqfKSMMgE631btqb9yi2kcAkwLDxf-8130_provenance.
- NP55621.RAhKHUENzHqpy-JctleKg9JjF5V_zJsnUariInqPzPDmk130_assertion description "[KvLQT1 and HERG mutations (one each) reduced K+ currents in vitro, consistent with the idea that they augment risk for aLQTS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55621.RAhKHUENzHqpy-JctleKg9JjF5V_zJsnUariInqPzPDmk130_provenance.
- NP55622.RAogdES4GiW0HxfCvnMAT_jJf5RmLY2YZWN59iY3o08X0130_assertion description "[Cardiac ion channel gene mutations in Greek long QT syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55622.RAogdES4GiW0HxfCvnMAT_jJf5RmLY2YZWN59iY3o08X0130_provenance.
- NP55623.RAgANJ55muWyIUm_g7JmLRIQHYuVapuMieYvW8r_k4jTY130_assertion description "[ As confirmed in modeling studies, these changes are expected to shorten action potential duration by an increase in I(Kr). This recapitulates the shorter QTc in females homozygous for the 2690C-allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP55623.RAgANJ55muWyIUm_g7JmLRIQHYuVapuMieYvW8r_k4jTY130_provenance.