A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease

scientific article published on 22 December 2019

A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/JCLA.23147
P932PMC publication ID7171333
P698PubMed publication ID31867804

P50authorNejat MahdiehQ91797914
Samira KalayiniaQ92195482
P2093author name stringMajid Maleki
Mohammad Mahdavi
P2860cites workCLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choiceQ24286950
Identification of de novo mutations and rare variants in hypoplastic left heart syndromeQ24298680
Notch signaling is essential for ventricular chamber developmentQ24299001
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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defectsQ24532094
Rate of de novo mutations and the importance of father's age to disease riskQ24632353
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerQ26775087
Genetics of congenital heart disease: the glass half emptyQ26862793
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
The Sequence Alignment/Map format and SAMtoolsQ27860966
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
The Human NOTCH1, 2, and 3 Genes Are Located at Chromosome Positions 9q34, 1p13-p11, and 19p13.2-p13.1 in Regions of Neoplasia-Associated TranslocationQ28116890
Notch signaling regulates left-right asymmetry determination by inducing Nodal expressionQ28587727
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Congenital heart disease in adults. Second of two partsQ33828347
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Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valveQ34665244
Notch signaling in cardiac developmentQ34780720
Exome analysis of a family with pleiotropic congenital heart disease.Q35897454
Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defectsQ37078059
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signalingQ37294787
The Notch1 transcriptional activation domain is required for development and reveals a novel role for Notch1 signaling in fetal hematopoietic stem cells.Q37666389
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Predicting functional effect of human missense mutations using PolyPhen-2.Q42406410
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.Q46661877
Variants in the NOTCH1 gene in patients with aortic coarctation.Q46812710
Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.Q50053266
MutationTaster2: mutation prediction for the deep-sequencing age.Q52877992
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valveQ57315168
The Pfam protein families database in 2019Q57793823
NOTCH maintains developmental cardiac gene network through WNT5AQ57810612
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohortsQ90238024
De Novo Mutations Reflect Development and Aging of the Human GermlineQ90699361
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotQ90735529
The contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal settingQ90845252
Defective NOTCH signaling drives increased vascular smooth muscle cell apoptosis and contractile differentiation in bicuspid aortic valve aortopathy: A review of the evidence and future directionsQ90947872
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectcongenital heart diseaseQ939364
P304page(s)e23147
P577publication date2019-12-22
P1433published inJournal of Clinical Laboratory AnalysisQ15754724
P1476titleA novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease
P478volume34

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