(Q34657908)

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MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434006%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections (English)

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23 February 2020

Mélodie Aubart

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23 February 2020

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23 February 2020

Mathilde Varret

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23 February 2020

Sophie Dupuis-Girod

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23 February 2020

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23 February 2020

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23 February 2020

Catherine Boileau

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23 February 2020

Marianne Abifadel

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23 February 2020

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Dong-Chuan Guo

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23 February 2020

Ellen S Regalado

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Ellen Regalado

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23 February 2020

Marie-Sylvie Gross

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Marie-Sylvie Gross

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23 February 2020

Guillaume Jondeau

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Guillaume Jondeau

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23 February 2020

Dianna M Milewicz

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Dianna M Milewicz

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23 February 2020

Laurent Tosolini

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Laurent Tosolini

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23 February 2020

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Mathieu Barbier

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23 February 2020

Ketty Kessler

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23 February 2020

Benoit Ho-Tin-Noe

8

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23 February 2020

Olivier Milleron

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23 February 2020

Sylvie Odent

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23 February 2020

Laurence Faivre

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23 February 2020

Yves Dulac

17

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23 February 2020

Tiffany Busa

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23 February 2020

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26 November 2014

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23 February 2020

American Journal of Human Genetics

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23 February 2020

95

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23 February 2020

6

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23 February 2020

736-743

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23 February 2020

Binding of MAGP2 to microfibrils is regulated by proprotein convertase cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Identification of a functional proprotein convertase cleavage site in microfibril-associated glycoprotein 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Genetics of thoracic aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

GATA6 haploinsufficiency causes pancreatic agenesis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Microfibril-associated MAGP-2 stimulates elastic fiber assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Profibrillin‐1 maturation by human dermal fibroblasts: Proteolytic processing and molecular chaperones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

26 October 2018

Cardiovascular manifestations in men and women carrying a FBN1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

26 October 2018

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

26 October 2018

Microfibril-associated glycoprotein-2 (MAGP-2) is specifically associated with fibrillin-containing microfibrils but exhibits more restricted patterns of tissue localization and developmental expression than its structural relative MAGP-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259978

26 October 2018

Identifiers

10.1016/J.AJHG.2014.10.018

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Europe PubMed Central

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23 February 2020

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Europe PubMed Central

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23 February 2020

PubMed publication ID

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Europe PubMed Central

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23 February 2020

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