(Q37083464)

18 August 2017

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections (English)

1 reference

18 August 2017

Jay Shendure

0 references

Catherine Boileau

0 references

Joseph S Coselli

1 reference

18 August 2017

Deborah A Nickerson

1 reference

18 August 2017

Mark J Rieder

1 reference

18 August 2017

Michael J Bamshad

1 reference

18 August 2017

Ellen Regalado

1 reference

18 August 2017

Suzanne M Leal

1 reference

18 August 2017

Dianna M Milewicz

1 reference

18 August 2017

Dong-chuan Guo

1 reference

18 August 2017

Limin Gong

1 reference

18 August 2017

Guillaume Jondeau

1 reference

National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

18 August 2017

object named as

National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

1 reference

18 August 2017

Darren E Casteel

1 reference

18 August 2017

Regie L Santos-Cortez

1 reference

18 August 2017

Jeong Joo Kim

1 reference

18 August 2017

Sarah Dyack

1 reference

18 August 2017

S Gabrielle Horne

1 reference

18 August 2017

Guijuan Chang

1 reference

18 August 2017

Zhenyu Li

1 reference

18 August 2017

GenTAC Registry Consortium

1 reference

18 August 2017

Choel Kim

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 August 2013

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

398-404

1 reference

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Co-Crystal Structures of PKG Iβ (92–227) with cGMP and cAMP Reveal the Molecular Details of Cyclic-Nucleotide Binding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Mutations in myosin light chain kinase cause familial aortic dissections

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

cGMP-dependent protein kinases and cGMP phosphodiesterases in nitric oxide and cGMP action

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Aneurysm syndromes caused by mutations in the TGF-beta receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Cyclic nucleotide-dependent protein kinases: intracellular receptors for cAMP and cGMP action

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Genetic characterization of mutations which affect catabolite-sensitive operons in Escherichia coli, including deletions of the gene for adenyl cyclase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Involvement of protein kinase A in nitric oxide stimulating effect on a BK(Ca) channel of human dermal fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Aortic diameter >or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Biomolecular interaction analysis in functional proteomics

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738837

10.1016/J.AJHG.2013.06.019

3 September 2018

Identifiers

DOI

1 reference

release_3w2gjrjxqvc4jhxltb6dgxakna

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3w2gjrjxqvc4jhxltb6dgxakna

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

PubMed publication ID

23910461

1 reference