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High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians
Springer Science and Business Media LLC - Tập 13 - Trang 1-8 - 2012
Deepa Selvi Rani, Pratibha Nallari, Singh Priyamvada, Calambur Narasimhan, Lalji Singh, Kumarasamy Thangaraj
Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had been reported in hypertrophic cardiomyopathy patients (HCM). However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients o... hiện toàn bộ
Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease
Springer Science and Business Media LLC - Tập 12 - Trang 1-9 - 2011
Keyue Ding, Iftikhar J Kullo
We hypothesized that the frequencies of risk alleles of SNPs mediating susceptibility to cardiovascular diseases differ among populations of varying geographic origin and that population-specific selection has operated on some of these variants. From the database of genome-wide association studies (GWAS), we selected 36 cardiovascular phenotypes including coronary heart disease, hypertension, and ... hiện toàn bộ
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
Springer Science and Business Media LLC - Tập 9 - Trang 1-5 - 2008
Mef Nilbert, Ulf Kristoffersson, Mats Ericsson, Oskar Johannsson, Eva Rambech, Peter Mangell
Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. Full genomic sequencing combined with multiplex ligation-dependent probe amplification ... hiện toàn bộ
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients
Springer Science and Business Media LLC - Tập 12 - Trang 1-6 - 2011
Roberto Schreiber, Maria C Ferreira-Sae, Juliana A Ronchi, José A Pio-Magalhães, José A Cipolli, José R Matos-Souza, José G Mill, Aníbal E Vercesi, José E Krieger, Kleber G Franchini, Alexandre C Pereira, Wilson Nadruz Junior
Reactive oxygen species have been implicated in the physiopathogenesis of hypertensive end-organ damage. This study investigated the impact of the C242T polymorphism of the p22-phox gene (CYBA) on left ventricular structure in Brazilian hypertensive subjects. We cross-sectionally evaluated 561 patients from 2 independent centers [Campinas (n = 441) and Vitória (n = 120)] by clinical history, physi... hiện toàn bộ
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
Springer Science and Business Media LLC - Tập 15 - Trang 1-8 - 2014
Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B Gorin
A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became legally blind within a period of 2 years. An eight year-old Hispanic female presented with bilateral decreased vision following a febrile gastrointestinal illness with nausea and vomiting. Ext... hiện toàn bộ
Genome-wide association study identifies PERLD1 as asthma candidate gene
Springer Science and Business Media LLC - Tập 12 - Trang 1-12 - 2011
Ramani Anantharaman, Anand Kumar Andiappan, Pallavi Parate Nilkanth, Bani Kaur Suri, De Yun Wang, Fook Tim Chew
Recent genome-wide association studies (GWAS) for asthma have been successful in identifying novel associations which have been well replicated. The aim of this study is to identify the genetic variants that influence predisposition towards asthma in an ethnic Chinese population in Singapore using a GWAS approach. A two-stage GWAS was performed in case samples with allergic asthma, and in control ... hiện toàn bộ
Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study
Springer Science and Business Media LLC - Tập 10 - Trang 1-9 - 2009
Lisa Gallicchio, Howard H Chang, Dana K Christo, Lucy Thuita, Han Yao Huang, Paul Strickland, Ingo Ruczinski, Sandra Clipp, Kathy J Helzlsouer
The aim of this study was to examine the associations between 16 specific single nucleotide polymorphisms (SNPs) in 8 obesity-related genes and overall and cause-specific mortality. We also examined the associations between the SNPs and body mass index (BMI) and change in BMI over time. Data were analyzed from 9,919 individuals who participated in two large community-based cohort studies conducted... hiện toàn bộ
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
Springer Science and Business Media LLC - Tập 20 - Trang 1-8 - 2019
Dan Li, Qinghe Jing, Yongxiang Jiang
Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several different Chinese, Caucasian and Iranian families of congenital cataracts. Further functional studies are needed to confirm the ... hiện toàn bộ
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
Springer Science and Business Media LLC - Tập 11 - Trang 1-12 - 2010
Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
Glutamate is the principal excitatory neurotransmitter in the central nervous system which acts by the activation of either ionotropic (AMPA, NMDA and kainate receptors) or G-protein coupled metabotropic receptors. Glutamate is widely accepted to play a major role in the path physiology of migraine as implicated by data from animal and human studies. Genes involved in synthesis, metabolism and reg... hiện toàn bộ
The impact of down-regulated SK3 expressions on Hirschsprung disease
Springer Science and Business Media LLC - Tập 19 - Trang 1-5 - 2018
Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro
Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression’s impact in HSCR patients after a properly performed pull-throug... hiện toàn bộ
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