(Q38803277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789736%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Impact of MYH6 variants in hypoplastic left heart syndrome (English)

1 reference

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26 March 2020

2

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26 March 2020

author name string

Aoy Tomita-Mitchell

1

1 reference

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26 March 2020

Donna K Mahnke

3

1 reference

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26 March 2020

Min-Su Kim

4

1 reference

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26 March 2020

Pip M Hidestrand

5

1 reference

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26 March 2020

Huan Ling Liang

6

1 reference

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26 March 2020

Mary A Goetsch

7

1 reference

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26 March 2020

Mats Hidestrand

8

1 reference

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26 March 2020

Pippa Simpson

9

1 reference

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26 March 2020

Andrew N Pelech

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789736%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

James S Tweddell

11

1 reference

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26 March 2020

D Woodrow Benson

12

1 reference

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26 March 2020

John W Lough

13

1 reference

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26 March 2020

Michael E Mitchell

14

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26 March 2020

publication date

27 October 2016

1 reference

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26 March 2020

published in

Physiological Genomics

1 reference

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26 March 2020

volume

48

1 reference

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26 March 2020

issue

12

1 reference

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26 March 2020

page(s)

912-921

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789736%20AND%20SRC:MED&resulttype=core&format=json

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.

26 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Activin-A and Bmp4 levels modulate cell type specification during CHIR-induced cardiomyogenesis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Intracardiac flow dynamics regulate atrioventricular valve morphogenesis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Guidelines for investigating causality of sequence variants in human disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Stiffness, working stroke, and force of single-myosin molecules in skeletal muscle: elucidation of these mechanical properties via nonlinear elasticity evaluation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Exome analysis of a family with pleiotropic congenital heart disease.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Human gene copy number spectra analysis in congenital heart malformations

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Cardiac myosin activation: a potential therapeutic approach for systolic heart failure

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Return to the fetal gene program: a suggested metabolic link to gene expression in the heart

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Hypoplastic left heart syndrome is heritable

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

The nomenclature, definition and classification of hypoplastic left heart syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Mutations in NOTCH1 cause aortic valve disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Mutation in myosin heavy chain 6 causes atrial septal defect

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Myocardial contraction is 5-fold more economical in ventricular than in atrial human tissue

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Epidemiology of cardiovascular malformations: prevalence and risk factors

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Myosin heavy chain isoform expression in the failing and nonfailing human heart

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Selective requirement of myosin light chain 2v in embryonic heart function

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Changes in gene expression in the intact human heart. Downregulation of alpha-myosin heavy chain in hypertrophied, failing ventricular myocardium.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Medical therapy can improve the biological properties of the chronically failing heart. A new era in the treatment of heart failure

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Reversible alterations in myocardial gene expression in a young man with dilated cardiomyopathy and hypothyroidism

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Mutation of weak atrium/atrial myosin heavy chain disrupts atrial function and influences ventricular morphogenesis in zebrafish

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Myocardial gene expression in dilated cardiomyopathy treated with beta-blocking agents

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Human cardiac myosin heavy chain isoforms in fetal and failing adult atria and ventricles

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5206387

Hypoplastic left heart syndrome: new insights

31 August 2018

1 reference

12 December 2020

The hypoplastic left heart syndrome; an analysis of 101 cases

1 reference

12 December 2020

Increased ventricular preload is compensated by myocyte proliferation in normal and hypoplastic fetal chick left ventricle

1 reference

12 December 2020

Exploring the environmental and genetic etiologies of congenital heart defects: the Wisconsin Pediatric Cardiac Registry

1 reference

12 December 2020

Hypoplastic left heart syndrome: new genetic insights

1 reference

12 December 2020

10.1152/PHYSIOLGENOMICS.00091.2016

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789736%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789736%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

27789736

1 reference