Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning (Q34582831)

3 August 2017

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning (English)

1 reference

3 August 2017

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1 reference

congenital heart disease

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4

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3 August 2017

5

Jeffrey A Towbin

1 reference

3 August 2017

Khalid A Fakhro

1

1 reference

3 August 2017

Murim Choi

2

1 reference

3 August 2017

Stephanie M Ware

3

1 reference

3 August 2017

Richard P Lifton

6

1 reference

3 August 2017

Mustafa K Khokha

7

1 reference

3 August 2017

Martina Brueckner

8

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3 August 2017

language of work or name

English

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publication date

31 January 2011

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

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3 August 2017

108

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3 August 2017

7

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3 August 2017

2915-2920

1 reference

The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

The genome of the Western clawed frog Xenopus tropicalis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Chromatin-bound nuclear pore components regulate gene expression in higher eukaryotes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Nucleoporins directly stimulate expression of developmental and cell-cycle genes inside the nucleoplasm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Disorders of left-right asymmetry: heterotaxy and situs inversus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Origins and functional impact of copy number variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Rock2 controls TGFbeta signaling and inhibits mesoderm induction in zebrafish embryos

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Microduplication 22q11.2: a new chromosomal syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Xenopus, an ideal model system to study vertebrate left-right asymmetry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Regulation of TGF-(beta) signalling by N-acetylgalactosaminyltransferase-like 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

GATA4 sequence variants in patients with congenital heart disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Cilia and developmental signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Tgfbeta signaling is required for atrioventricular cushion mesenchyme remodeling during in vivo cardiac development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

The left-right axis in the mouse: from origin to morphology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Proteomic analysis of a eukaryotic cilium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Suppression of Nek2A in mouse early embryos confirms its requirement for chromosome segregation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Detection of large-scale variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Two populations of node monocilia initiate left-right asymmetry in the mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Genetics of human laterality disorders: insights from vertebrate model systems

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Xenopus neurula left-right asymmetry is respeficied by microinjecting TGF-beta5 protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Techniques and probes for the study of Xenopus tropicalis development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

The Nek2 protein kinase: a novel regulator of centrosome structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

A proteomic analysis of human cilia: identification of novel components

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Rho kinases play an obligatory role in vertebrate embryonic organogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Pitx2 participates in the late phase of the pathway controlling left-right asymmetry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

X-linked situs abnormalities result from mutations in ZIC3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3041108

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1019645108

Flow on the right side of the gastrocoel roof plate is dispensable for symmetry breakage in the frog Xenopus laevis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1019645108

Familial transposition of the great arteries caused by multiple mutations in laterality genes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1019645108

The nodal inhibitor Coco is a critical target of leftward flow in Xenopus

21 January 2018

1 reference

12 December 2020

A molecular pathway determining left-right asymmetry in chick embryogenesis

1 reference

12 December 2020

Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome

1 reference

12 December 2020

Cilia-driven leftward flow determines laterality in Xenopus

1 reference

12 December 2020

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review

1 reference

12 December 2020

D-transposition of the great arteries in a case of microduplication 22q11.2.

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1019645108

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference