☆ 4.5 Article

Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

BMC PEDIATRICS (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Oncology

Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study

Cheng Shen et al.

Summary: This study found that genetic variants with potential risk for sporadic dilated cardiomyopathy (SDCM) were commonly present in Chinese patients. These findings indicate that genetic factors contribute to the pathogenesis and onset of DCM in these patients.

ANNALS OF TRANSLATIONAL MEDICINE (2022)

添加到收藏夹

Article Genetics & Heredity

MYH7 variants cause complex congenital heart disease

Alyssa Ritter et al.

Summary: MYH7 gene variants are a common cause of hypertrophic and dilated cardiomyopathy, as well as being associated with left ventricular noncompaction cardiomyopathy and congenital heart disease. This study found that MYH7 variants may lead to complex CHD and expand the phenotypic spectrum beyond expectations.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

添加到收藏夹

Article Pediatrics

Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case-control study encompassing meta-analysis and trial sequential analysis

Jyotdeep Kour Raina et al.

Summary: This study found a significant association between the MTHFR gene's C677T polymorphism and the risk of Congenital Heart Defects (CHD) through case-control association pilot study and meta-analysis. However, no significant association was observed between the MS gene's A2756G polymorphism and CHD risk.

BMC PEDIATRICS (2022)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Novel Mutations in b-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy

Deepa Selvi Rani et al.

Summary: This study identified 27 variations, including 7 mutations exclusively detected in Indian dilated cardiomyopathy patients. The findings suggest that these mutations in the MYH7 gene may disrupt critical networks and contribute to the development of dilated cardiomyopathy.

CJC OPEN (2022)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases

Melissa Anfinson et al.

Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease with complex genetic inheritance. Variants in the MYH6 gene have been implicated in HLHS and other cardiac malformations, highlighting the importance of genetic testing in diagnosis and treatment.

JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (2022)

添加到收藏夹

Article Genetics & Heredity

Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease

Sarah J. Spendlove et al.

Summary: Congenital heart disease (CHD) is a rare structural defect, and common genetic variants have a modest but significant contribution to the phenotypic expression of CHD.

HUMAN GENETICS AND GENOMICS ADVANCES (2022)

添加到收藏夹

Article Medicine, Research & Experimental

Congenital heart disease risk loci identified by genome-wide association study in European patients

Harald Lahm et al.

Summary: Genetic factors have a significant impact on the development of congenital heart disease (CHD), with specific SNP-carrying genes identified in a genome-wide association study of over 4000 CHD patients and 8000 healthy controls. These genes, including MACROD2, GOSR2, WNT3, and MSX7, play crucial functional roles in heart development during embryonic and newborn stages.

JOURNAL OF CLINICAL INVESTIGATION (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Plasma Hsp90 levels in patients with systemic sclerosis and relation to lung and skin involvement: a cross-sectional and longitudinal study

Hana Storkanova et al.

Summary: According to the study, plasma levels of Hsp90 are increased in patients with systemic sclerosis compared to healthy controls, and are associated with increased inflammatory activity, worsened lung function, and extent of skin involvement in patients with diffuse cutaneous systemic sclerosis. In patients with systemic sclerosis-associated interstitial lung disease treated with cyclophosphamide, baseline Hsp90 levels can predict changes in DLCO over 12 months of therapy.

SCIENTIFIC REPORTS (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Cardiac myosin contraction and mechanotransduction in health and disease

Samantha K. Barrick et al.

Summary: Cardiac myosin, as a molecular motor, plays an important role in driving heart contraction and is involved in regulating the process. Studies have shown that tension generated by cardiac myosin affects physiological processes beyond muscle contraction. Furthermore, research on cardiac myosin as a target for heart disease treatment is ongoing.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Environmental Risk Factors and Congenital Heart Disease: An Umbrella Review of 165 Systematic Reviews and Meta-Analyses With More Than 120 Million Participants

Tie-Ning Zhang et al.

Summary: This umbrella review examined 165 meta-analyses of different environmental factors and congenital heart disease, finding significant associations between severe obesity and CHD risk, as well as other factors like maternal lithium exposure and maternal obesity. More well-designed studies are needed to establish robust evidence in this area.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2021)

添加到收藏夹

Article Genetics & Heredity

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease

Ritu Dixit et al.

Summary: NKX2-5 variants were found to impair downstream promoter activities and result in abnormal expression of target genes involved in cardiac development pathways. The role of N-terminal variants in this process is gradually emerging.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy

Alejandro Junco-Vicente et al.

Summary: Bicuspid aortic valve (BAV) associated with aortopathy is a common congenital heart disease that is complex and heterogeneous in nature. While recent studies have identified genetic mutations and explored molecular alterations involved, the pathophysiology of the disease is still not fully understood. Further research is needed to find therapeutic targets for prevention and treatment.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Multidisciplinary Sciences

The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene

Minoo Bagheri et al.

Summary: Inflammation, particularly involving the SH2B3 pathways, may contribute to the increased risk of cardiometabolic disease by affecting plasma kynurenine levels. Genetic approaches have identified specific inflammatory mechanisms associated with kynurenine variability, suggesting that kynurenine could be a biomarker of inflammation contributing to cardiometabolic disease risk. Mendelian randomization showed associations between kynurenine, central obesity, and C-reactive protein, further supporting the role of kynurenine in inflammation and cardiometabolic disease.

SCIENTIFIC REPORTS (2021)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene

Sujata S. Alawani et al.

Summary: Left Ventricular Non Compaction (LVNC) is considered a unique cardiomyopathy according to the American Heart Association guidelines, with up to 41% cases thought to be genetic. This report presents a family with LVNC due to a novel mutation in the MYH 7 gene.

ANNALS OF PEDIATRIC CARDIOLOGY (2021)

添加到收藏夹

Review Genetics & Heredity

The genetic workup for structural congenital heart disease

Teodoro Jerves et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)

添加到收藏夹

Review Genetics & Heredity

Development of the human heart

Marieke F. J. Buijtendijk et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)

添加到收藏夹

Article Cell Biology

Genetic Basis of Human Congenital Heart Disease

Shannon N. Nees et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2020)

添加到收藏夹

Article Genetics & Heredity

Nuclear Co-repressor 1: A Potential Candidate Gene in the Manifestation of Congenital Heart Diseases

Rahim Gholipoorfeshkecheh et al.

INTERNATIONAL JOURNAL OF HUMAN GENETICS (2020)

添加到收藏夹

Article Multidisciplinary Sciences

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

Ioanna Ntalla et al.

NATURE COMMUNICATIONS (2020)

添加到收藏夹

Article Mathematics, Applied

Predicting congenital heart disease using machine learning techniques

Samta Rani et al.

JOURNAL OF DISCRETE MATHEMATICAL SCIENCES & CRYPTOGRAPHY (2020)

添加到收藏夹

Review Genetics & Heredity

Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways

Emmanuel Suluba et al.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS (2020)

添加到收藏夹

Article Biochemical Research Methods

Probabilistic ancestry maps: a method to assess and visualize population substructures in genetics

Helena A. Gaspar et al.

BMC BIOINFORMATICS (2019)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Beyond the One Gene-One Disease Paradigm Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Marina Cerrone et al.

CIRCULATION (2019)

添加到收藏夹

Article Multidisciplinary Sciences

Sequence variants with large effects on cardiac electrophysiology and disease

Kristjan Norland et al.

NATURE COMMUNICATIONS (2019)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Implication of GATA4 synonymous variants in congenital heart disease: A comprehensive in-silico approach

Ritu Dixit et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2019)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Familial co-occurrence of congenital heart defects follows distinct patterns

Sabrina G. Ellesoe et al.

EUROPEAN HEART JOURNAL (2018)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

Thorsteinn Bjornsson et al.

EUROPEAN HEART JOURNAL (2018)

添加到收藏夹

Article

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation

Saidulu Mattapally et al.

Oncotarget (2018)

添加到收藏夹

Review Physiology

Uncoupling Protein 2 in Cardiovascular Health and Disease

Xiao Yu Tian et al.

FRONTIERS IN PHYSIOLOGY (2018)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Mary Ella Pierpont et al.

CIRCULATION (2018)

添加到收藏夹

Article Pediatrics

Congenital Heart Disease in India: A Status Report

Anita Saxena

INDIAN PEDIATRICS (2018)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Prenatal diagnosis of congenital heart disease: A review of current knowledge

Nathalie Jeanne Bravo-valenzuela et al.

INDIAN HEART JOURNAL (2018)

添加到收藏夹

Article Pediatrics

Ethnic and socioeconomic variation in incidence of congenital heart defects

Rachel L. Knowles et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Advances in the Genetics of Congenital Heart Disease A Clinician's Guide

Gillian M. Blue et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2017)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease

Divya Bose et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

A. J. Agopian et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Genetics and Genomics of Congenital Heart Disease

Samir Zaidi et al.

CIRCULATION RESEARCH (2017)

添加到收藏夹

Article Biochemistry & Molecular Biology

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Neil A. Hanchard et al.

HUMAN MOLECULAR GENETICS (2016)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

The Function of the MEF2 Family of Transcription Factors in Cardiac Development, Cardiogenomics, and Direct Reprogramming

Cody A. Desjardins et al.

JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (2016)

添加到收藏夹

Article Genetics & Heredity

The Diagnostic Value of Next Generation Sequencing in Familial Nonsyndromic Congenital Heart Defects

Yaojuan Jia et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

添加到收藏夹

Article Genetics & Heredity

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

Dhanya Ramachandran et al.

G3-GENES GENOMES GENETICS (2015)

添加到收藏夹

Article Biochemistry & Molecular Biology

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

Laura E. Mitchell et al.

HUMAN MOLECULAR GENETICS (2015)

添加到收藏夹

Review Biochemistry & Molecular Biology

Of mice and men: molecular genetics of congenital heart disease

Troels Askhoj Andersen et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2014)

添加到收藏夹

Editorial Material Cardiac & Cardiovascular Systems

Novel Mutation in Exon 14 of the Sarcomere Gene MYH7 in Familial Left Ventricular Noncompaction With Bicuspid Aortic Valve

Ratnadeep Basu et al.

CIRCULATION-HEART FAILURE (2014)

添加到收藏夹

Article Rheumatology

A Genome-Wide Association Study Reveals ARL15, a Novel Non-HLA Susceptibility Gene for Rheumatoid Arthritis in North Indians

Sapna Negi et al.

ARTHRITIS AND RHEUMATISM (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Heather J. Cordell et al.

HUMAN MOLECULAR GENETICS (2013)

添加到收藏夹

Article Cell Biology

Signaling and Transcriptional Networks in Heart Development and Regeneration

Benoit G. Bruneau

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)

添加到收藏夹

Article Genetics & Heredity

Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect

Priyanka Ghosh et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Genetic Analysis of Essential Cardiac Transcription Factors in 256 Patients With Non-Syndromic Congenital Heart Defects

Kazuki Kodo et al.

CIRCULATION JOURNAL (2012)

添加到收藏夹

Article Pathology

Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography-Based Protocol New Guidelines and a Proposal for Routine Diagnosis

Frederic Bilan et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2012)

添加到收藏夹

Article Multidisciplinary Sciences

Potential of Ayurgenomics Approach in Complex Trait Research: Leads from a Pilot Study on Rheumatoid Arthritis

Ramesh C. Juyal et al.

PLOS ONE (2012)

添加到收藏夹

Article Biochemistry & Molecular Biology

GATA4 Specific Nonsynonymous Single-Nucleotide Polymorphisms in Congenital Heart Disease Patients of Mysore, India

Sosalagere M. Dinesh et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2011)

添加到收藏夹

Article Immunology

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India

RamachandraB Nallur et al.

INDIAN JOURNAL OF MEDICAL RESEARCH (2011)

添加到收藏夹

Review Genetics & Heredity

Genetic factors in non-syndromic congenital heart malformations

M. W. Wessels et al.

CLINICAL GENETICS (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Consanguinity Mapping of Congenital Heart Disease in a South Indian Population

Tracy L. McGregor et al.

PLOS ONE (2010)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Recurrence of Congenital Heart Defects in Families

Nina Oyen et al.

CIRCULATION (2009)

添加到收藏夹

Article Multidisciplinary Sciences

Reconstructing Indian population history

David Reich et al.

NATURE (2009)

添加到收藏夹

Review Cell Biology

Genetic pathways to mammalian heart development: Recent progress from manipulation of the mouse genome

Huansheng Xu et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2007)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

The incidence of congenital heart disease

JIE Hoffman et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2002)

添加到收藏夹

Article Public, Environmental & Occupational Health

Sample size requirements for association studies of gene-gene interaction

WJ Gauderman

AMERICAN JOURNAL OF EPIDEMIOLOGY (2002)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Cardiac remodeling-concepts and clinical implications: A consensus paper from an international forum on cardiac remodeling

JN Cohn et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2000)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.