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Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

https://doi.org/10.1101/300905
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Vascular abnormalities in Adams-Oliver syndrome: Cause or effect?
inferredcites →https://doi.org/10.1002/ajmg.a.30789openalex-snapshot
PTPN11 mutations play a minor role in isolated congenital heart disease
inferredcites →https://doi.org/10.1002/ajmg.a.36685openalex-snapshot
Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations
inferredcites →https://doi.org/10.1002/ajmg.a.37108openalex-snapshot
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
inferredcites →https://doi.org/10.1002/humu.21231openalex-snapshot
Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis
inferredcites →https://doi.org/10.1002/humu.22947openalex-snapshot
MESP1 Mutations in Patients with Congenital Heart Defects
inferredcites →https://doi.org/10.1002/humu.9410openalex-snapshot
A novel mutation in theGATA4 gene in patients with Tetralogy of Fallot
inferredcites →https://doi.org/10.1007/s00268-009-0296-8openalex-snapshot
Tetralogy of Fallot: Yesterday and Today
inferredcites →https://doi.org/10.1016/j.ajhg.2011.07.009openalex-snapshot
Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
inferredcites →https://doi.org/10.1016/j.ajhg.2012.08.003openalex-snapshot
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
inferredcites →https://doi.org/10.1016/j.ajhg.2014.03.007openalex-snapshot
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
inferredcites →https://doi.org/10.1016/j.ajhg.2014.07.011openalex-snapshot
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
inferredcites →https://doi.org/10.1016/j.bbrc.2011.01.056openalex-snapshot
A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties
inferredcites →https://doi.org/10.1016/j.cell.2014.03.050openalex-snapshot
Compensatory Flux Changes within an Endocytic Trafficking Network Maintain Thermal Robustness of Notch Signaling
inferredcites →https://doi.org/10.1016/j.devcel.2006.12.011openalex-snapshot
Notch Signaling Is Essential for Ventricular Chamber Development
inferredcites →https://doi.org/10.1016/j.jacc.2014.09.048openalex-snapshot
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
inferredcites →https://doi.org/10.1016/j.jtcvs.2007.02.041openalex-snapshot
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms
inferredcites →https://doi.org/10.1016/j.stem.2008.04.004openalex-snapshot
Mesp1 Coordinately Regulates Cardiovascular Fate Restriction and Epithelial-Mesenchymal Transition in Differentiating ESCs
inferredcites →https://doi.org/10.1016/j.stem.2008.06.009openalex-snapshot
Mesp1 Acts as a Master Regulator of Multipotent Cardiovascular Progenitor Specification
inferredcites →https://doi.org/10.1016/j.str.2011.12.011openalex-snapshot
Conformational Locking upon Cooperative Assembly of Notch Transcription Complexes
inferredcites →https://doi.org/10.1016/j.tcb.2012.02.003openalex-snapshot
Non-canonical Notch signaling: emerging role and mechanism
inferredcites →https://doi.org/10.1016/j.yexcr.2006.11.017openalex-snapshot
Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth
inferredcites →https://doi.org/10.1016/s0092-8674(01)00247-1openalex-snapshot
TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
inferredcites →https://doi.org/10.1016/s0140-6736(97)06486-6openalex-snapshot
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study
inferredcites →https://doi.org/10.1038/35065105openalex-snapshot
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
inferredcites →https://doi.org/10.1038/gim.2015.193openalex-snapshot
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
inferredcites →https://doi.org/10.1038/jhg.2010.84openalex-snapshot
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect
inferredcites →https://doi.org/10.1038/nature12141openalex-snapshot
De novo mutations in histone-modifying genes in congenital heart disease
inferredcites →https://doi.org/10.1038/ncb1696openalex-snapshot
MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling
inferredcites →https://doi.org/10.1038/ng.2637openalex-snapshot
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
inferredcites →https://doi.org/10.1038/ng.3627openalex-snapshot
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
inferredcites →https://doi.org/10.1038/ng.415openalex-snapshot
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
inferredcites →https://doi.org/10.1053/j.gastro.2010.02.010openalex-snapshot
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
inferredcites →https://doi.org/10.1053/j.pcsu.2014.01.012openalex-snapshot
Tetralogy of Fallot and Pulmonary Valve Replacement: Timing and Techniques in the Asymptomatic Patient
inferredcites →https://doi.org/10.1073/pnas.252624099openalex-snapshot
A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
inferredcites →https://doi.org/10.1073/pnas.95.14.8108openalex-snapshot
The Notch1 receptor is cleaved constitutively by a furin-like convertase
inferredcites →https://doi.org/10.1074/jbc.m212221200openalex-snapshot
Fringe Modifies O-Fucose on Mouse Notch1 at Epidermal Growth Factor-like Repeats within the Ligand-binding Site and the Abruptex Region
inferredcites →https://doi.org/10.1074/jbc.m506104200openalex-snapshot
Highly Conserved O-Fucose Sites Have Distinct Effects on Notch1 Function
inferredcites →https://doi.org/10.1093/hmg/ddn187openalex-snapshot
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
inferredcites →https://doi.org/10.1093/hmg/ddp211openalex-snapshot
CADASIL mutations enhance spontaneous multimerization of NOTCH3
inferredcites →https://doi.org/10.1093/hmg/ddr589openalex-snapshot
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
inferredcites →https://doi.org/10.1093/hmg/dds552openalex-snapshot
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
inferredcites →https://doi.org/10.1093/hmg/ddx140openalex-snapshot
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis
inferredcites →https://doi.org/10.1093/oxfordjournals.aje.a113979openalex-snapshot
CONGENITAL HEART DISEASE: PREVALENCE AT LIVEBIRTH
inferredcites →https://doi.org/10.1101/gad.276304openalex-snapshot
Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation
inferredcites →https://doi.org/10.1101/gad.8.6.707openalex-snapshot
Notch1 is essential for postimplantation development in mice.
inferredcites →https://doi.org/10.1111/j.1399-0004.2011.01674.xopenalex-snapshot
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
inferredcites →https://doi.org/10.1126/science.aac9396openalex-snapshot
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
inferredcites →https://doi.org/10.1126/scisignal.2003661openalex-snapshot
Akt and PP2A Reciprocally Regulate the Guanine Nucleotide Exchange Factor Dock6 to Control Axon Growth of Sensory Neurons
inferredcites →https://doi.org/10.1136/hrt.2005.061143openalex-snapshot
Tetralogy of Fallot: from fetus to adult
inferredcites →https://doi.org/10.1136/hrt.2010.200121openalex-snapshot
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
inferredcites →https://doi.org/10.1161/circgenetics.111.962035openalex-snapshot
A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot
inferredcites →https://doi.org/10.1161/circgenetics.114.000819openalex-snapshot
22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of Fallot
inferredcites →https://doi.org/10.1161/circgenetics.115.001086openalex-snapshot
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
inferredcites →https://doi.org/10.1161/circulationaha.114.009454openalex-snapshot
Unnatural History of Tetralogy of Fallot
inferredcites →https://doi.org/10.1161/hc4601.098427openalex-snapshot
NKX2.5 Mutations in Patients With Tetralogy of Fallot
inferredcites →https://doi.org/10.1172/jci.insight.91353openalex-snapshot
Notch1 haploinsufficiency causes ascending aortic aneurysms in mice
inferredcites →https://doi.org/10.1172/jci38922openalex-snapshot
Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development
inferredcites →https://doi.org/10.1172/jci39733openalex-snapshot
Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease
inferredcites →https://doi.org/10.1186/1471-2156-14-57openalex-snapshot
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot
inferredcites →https://doi.org/10.1186/1750-1172-4-2openalex-snapshot
Tetralogy of Fallot
inferredcites →https://doi.org/10.1186/1750-1172-8-5openalex-snapshot
Syndromic diarrhea/Tricho-hepato-enteric syndrome
inferredcites →https://doi.org/10.1186/1755-8794-4-1openalex-snapshot
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
inferredcites →https://doi.org/10.1242/dev.028902openalex-snapshot
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm
inferredcites →https://doi.org/10.1242/dev.120.3.473openalex-snapshot
Cytosolic interaction between deltex and Notch ankyrin repeats implicates deltex in the Notch signaling pathway
inferredcites →https://doi.org/10.1242/dev.121.5.1533openalex-snapshot
Notch1 is required for the coordinate segmentation of somites
inferredcites →https://doi.org/10.12688/f1000research.7049.1openalex-snapshot
The ICR1000 UK exome series: a resource of gene variation in an outbred population
inferredcites →https://doi.org/10.1371/journal.pone.0087472openalex-snapshot
Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot
inferredcites →https://doi.org/10.1371/journal.pone.0095453openalex-snapshot
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot
inferredcites →https://doi.org/10.1586/14737159.2014.922880openalex-snapshot
Interpretation ofNOTCH3mutations in the diagnosis of CADASIL
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