Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. (Q50955653)

26 March 2018

title

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. (English)

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26 March 2018

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5

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author name string

Jeanne L Theis

1

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26 March 2018

Sybil C L Hrstka

2

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26 March 2018

Jared M Evans

3

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26 March 2018

Megan M O'Byrne

4

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26 March 2018

Patrick W O'Leary

6

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26 March 2018

Timothy J Nelson

7

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26 March 2018

Timothy M Olson

8

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publication date

12 July 2015

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26 March 2018

published in

Human Genetics

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26 March 2018

volume

134

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26 March 2018

issue

9

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26 March 2018

page(s)

1003-1011

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26 March 2018

https://scigraph.springernature.com/pub.10.1007/s00439-015-1582-1

exact match

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cites work

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

The variant call format and VCFtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

High-resolution crystal structure of the human Notch 1 ankyrin domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Mutations in NOTCH1 cause aortic valve disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Notch signaling is essential for ventricular chamber development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

The multifaceted role of Notch in cardiac development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

An induced pluripotent stem cell model of hypoplastic left heart syndrome (HLHS) reveals multiple expression and functional differences in HLHS-derived cardiac myocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

A second-generation combined linkage physical map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Physiologic repair of aortic atresia-hypoplastic left heart syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Integrative genomics viewer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Notch1 is essential for postimplantation development in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Notch signaling activation in human embryonic stem cells is required for embryonic, but not trophoblastic, lineage commitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1582-1

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

12 December 2020

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve

1 reference

12 December 2020

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

1 reference

12 December 2020

Autosomal dominant inheritance of left ventricular outflow tract obstruction

1 reference

12 December 2020

Complex genetics and the etiology of human congenital heart disease

1 reference

12 December 2020

Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome

1 reference

12 December 2020

10.1007/S00439-015-1582-1

Identifiers

DOI

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26 March 2018

PubMed ID

26164125

1 reference

26 March 2018