Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
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Title
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2019-11-05
DOI
10.1093/hmg/ddz270
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Note: Only part of the references are listed.- Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot
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- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
- (2018) Josephina A.N. Meester et al. HUMAN MUTATION
- MIB1 mutations reduce Notch signaling activation and contribute to congenital heart disease
- (2018) Binbin Li et al. CLINICAL SCIENCE
- The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
- (2018) Paul Lacaze et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
- (2018) Emmi Helle et al. GENETIC EPIDEMIOLOGY
- Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
- (2018) Dimuthu Alankarage et al. GENETICS IN MEDICINE
- The interplay between the cellular hypoxic response and Notch signaling
- (2017) Sebastian K.-J. Landor et al. EXPERIMENTAL CELL RESEARCH
- Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome
- (2017) Miwako Nagasaka et al. JOURNAL OF HUMAN GENETICS
- Notch Signaling in Development, Tissue Homeostasis, and Disease
- (2017) Chris Siebel et al. PHYSIOLOGICAL REVIEWS
- Notch1 endocytosis is induced by ligand and is required for signal transduction
- (2016) G. Chapman et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- AKT: ancestry and kinship toolkit
- (2016) Rudy Arthur et al. BIOINFORMATICS
- Prepregnancy Diabetes and Offspring Risk of Congenital Heart DiseaseCLINICAL PERSPECTIVE
- (2016) Nina Øyen et al. CIRCULATION
- Gestational stress induces the unfolded protein response, resulting in heart defects
- (2016) Hongjun Shi et al. DEVELOPMENT
- Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
- (2016) Wilhelmina S. Kerstjens-Frederikse et al. GENETICS IN MEDICINE
- Notch signalling in context
- (2016) Sarah J. Bray NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease
- (2016) Christoph Preuss et al. PLoS Genetics
- Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
- (2015) Josephina A.N. Meester et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Effect of maternal diabetes on the embryo, fetus, and children: Congenital anomalies, genetic and epigenetic changes and developmental outcomes
- (2015) Asher Ornoy et al. BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS
- Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE
- (2015) Laura Southgate et al. Circulation-Cardiovascular Genetics
- DLL4loss-of-function heterozygous mutations cause Adams-Oliver syndrome
- (2015) F. Aminkeng CLINICAL GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Risk of Congenital Heart Defects in the Offspring of Smoking Mothers: A Population-Based Study
- (2015) Patrick M. Sullivan et al. JOURNAL OF PEDIATRICS
- Maternal Hypertension During Pregnancy and the Risk of Congenital Heart Defects in Offspring: A Systematic Review and Meta-analysis
- (2015) Anushuya Ramakrishnan et al. PEDIATRIC CARDIOLOGY
- Structural basis for Notch1 engagement of Delta-like 4
- (2015) V. C. Luca et al. SCIENCE
- Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE
- (2015) Laura Southgate et al. Circulation-Cardiovascular Genetics
- Mutations in NOTCH1 Cause Adams-Oliver Syndrome
- (2014) Anna-Barbara Stittrich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Notch4 reveals a novel mechanism regulating Notch signal transduction
- (2014) A.C. James et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Role of Notch signaling in the mammalian heart
- (2014) X.L. Zhou et al. BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
- Therapeutic Drugs that Slow the Heart Rate of Early Rat Embryos. Is there a Risk for the Human?
- (2014) William Webster et al. CURRENT PHARMACEUTICAL DESIGN
- Gene–environment interaction demonstrates the vulnerability of the embryonic heart
- (2014) Victoria C. O׳Reilly et al. DEVELOPMENTAL BIOLOGY
- Cited2 is required in trophoblasts for correct placental capillary patterning
- (2014) Julie L.M. Moreau et al. DEVELOPMENTAL BIOLOGY
- A polygenic burden of rare disruptive mutations in schizophrenia
- (2014) Shaun M. Purcell et al. NATURE
- Prevalence of Symptomatic Congenital Heart Disease in Tibetan School Children
- (2013) Jian-Yong Zheng et al. AMERICAN JOURNAL OF CARDIOLOGY
- Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome
- (2013) Claudia Algaze et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Teratogenic Effect of Dofetilide during Rat Limb Development and Association with Drug-Induced Bradycardia and Hypoxia in the Embryo
- (2013) Helen E. Ritchie et al. BIRTH DEFECTS RESEARCH PART B-DEVELOPMENTAL AND REPRODUCTIVE TOXICOLOGY
- Intrinsic Selectivity of Notch 1 for Delta-like 4 Over Delta-like 1
- (2013) Marie Blanke Andrawes et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2013) Guillermo Luxán et al. NATURE MEDICINE
- Identification of novel NOTCH1 mutations: Increasing our knowledge of the NOTCH signaling pathway
- (2013) L. Gallo Llorente et al. PEDIATRIC BLOOD & CANCER
- Nongenetic Risk Factors and Congenital Heart Defects
- (2013) Sonali S. Patel et al. PEDIATRIC CARDIOLOGY
- Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
- (2012) Seunggeun Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
- (2012) H. Li BIOINFORMATICS
- A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis
- (2012) Duncan B. Sparrow et al. CELL
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- (2011) Meritxell Nus et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Birth Prevalence of Congenital Heart Disease Worldwide
- (2011) Denise van der Linde et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis
- (2010) Gavin Chapman et al. HUMAN MOLECULAR GENETICS
- A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development
- (2010) Gerard F Hoyne et al. IMMUNOLOGY AND CELL BIOLOGY
- De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
- (2009) Steven C Greenway et al. NATURE GENETICS
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- (2009) Wendy R. Gordon et al. PLoS One
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- (2008) Melih Acar et al. CELL
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- (2008) K. L. McBride et al. HUMAN MOLECULAR GENETICS
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