Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier (Q36976869)

17 August 2017

Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier (English)

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17 August 2017

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congenital heart disease

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6

Cheryl L Maslen

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17 August 2017

Huiqing Li

1

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17 August 2017

Sarah Edie

2

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17 August 2017

Donna Klinedinst

3

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17 August 2017

Jun Seop Jeong

4

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17 August 2017

Seth Blackshaw

5

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17 August 2017

Roger H Reeves

7

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17 August 2017

language of work or name

English

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publication date

30 March 2016

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17 August 2017

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17 August 2017

203

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17 August 2017

2

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17 August 2017

763-770

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Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Construction of human activity-based phosphorylation networks.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Rapid identification of monospecific monoclonal antibodies using a human proteome microarray

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Jamb and jamc are essential for vertebrate myocyte fusion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

The role of junctional adhesion molecules in vascular inflammation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Putative "stemness" gene jam-B is not required for maintenance of stem cell state in embryonic, neural, or hematopoietic stem cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

The role of Wnt signalling in cardiac development and tissue remodelling in the mature heart

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Molecular genetics of atrioventricular septal defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

A novel protein with homology to the junctional adhesion molecule. Characterization of leukocyte interactions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896192

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27029737

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27029737

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1534/GENETICS.116.188045

1 reference

17 August 2017

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17 August 2017

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