(Q34665244)

3 August 2017

title

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

1 reference

3 August 2017

0 references

6

Nicoletta Botto

1 reference

3 August 2017

Ilenia Foffa

1

1 reference

3 August 2017

Lamia Ait Alì

2

1 reference

3 August 2017

Paola Panesi

3

1 reference

3 August 2017

Massimiliano Mariani

4

1 reference

3 August 2017

Pierluigi Festa

5

1 reference

3 August 2017

Cecilia Vecoli

7

1 reference

3 August 2017

Maria Grazia Andreassi

8

1 reference

3 August 2017

publication date

11 April 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

14

1 reference

3 August 2017

page(s)

44

1 reference

Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Bicuspid aortic valve disease: a comprehensive review.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Loss of Gata5 in mice leads to bicuspid aortic valve

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Cellular and molecular mechanisms of thoracic aortic aneurysms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Notch1 represses osteogenic pathways in aortic valve cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

The dilated aorta in patients with congenital cardiac defects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Managemen

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced 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=3637327

Epidemiology and genetics of calcific aortic valve 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=3637327

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Pathogenesis of calcific aortic valve disease: a disease process comes of age (and a good deal more).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Mutations in NOTCH1 cause aortic valve 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=3637327

Turning it up a Notch: cross-talk between TGF beta and Notch 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=3637327

Bicuspid aortic valve is heritable

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Cooperative interaction between GATA-4 and GATA-6 regulates myocardial gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

Incidence of aortic complications in patients with bicuspid aortic valves

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

GATA5 interacts with GATA4 and GATA6 in outflow tract development

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Genetic insights into bicuspid aortic valve formation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637327

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

The Bicuspid Aortic Valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-44

Congenitally bicuspid aortic valve in multiple family members

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23578328

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23578328

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-14-44

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference