Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome (Q28507740)

GOA release 2020-03-11

Lee B. Smith

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author name string

Patrick W. F. Hadoke

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24 January 2017

Emma Dyer

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24 January 2017

Martin A. Denvir

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24 January 2017

David Brownstein

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24 January 2017

Eileen Miller

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24 January 2017

Nancy Nelson

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24 January 2017

Sara Wells

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24 January 2017

Michael Cheeseman

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24 January 2017

Andy Greenfield

Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture

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24 January 2017

1 April 2011

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24 January 2017

Cardiovascular Research

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24 January 2017

90

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24 January 2017

1

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24 January 2017

182–190

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24 January 2017

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Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058731

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058731

The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos 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=3058731

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos 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=3058731

The Maestro (Mro) gene is dispensable for normal sexual development and fertility in mice

29 September 2017

1 reference

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Altered transforming growth factor-beta signaling in a murine model of thoracic aortic aneurysm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058731

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058731

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

29 September 2017

1 reference

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Heritable diseases of collagen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058731

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic 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=3058731

Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.

29 September 2017

1 reference

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Influence of the vascular endothelium on agonist-induced contractions and relaxations in rat aorta

2 June 2018

1 reference

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Depression of contractile responses in rat aorta by spontaneously released endothelium-derived relaxing factor.

2 June 2018

1 reference

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Synthesis of types I and III procollagen and collagen by monkey aortic smooth muscle cells in vitro

2 June 2018

1 reference

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Endothelial cell dysfunction in mice after transgenic knockout of type 2, but not type 1, 11beta-hydroxysteroid dehydrogenase

2 June 2018

1 reference

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Collagen characterisation and cell transformation in human atherosclerosis

27 November 2018

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12 December 2020

Involvement of alpha-adrenoceptors in the endothelium-dependent depression of noradrenaline-induced contraction in rat aorta

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12 December 2020

Improved system for measuring systolic blood pressure in the conscious rat

1 reference

12 December 2020

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

1 reference

12 December 2020

Aortic dissection: a rare complication of osteogenesis imperfecta

1 reference

12 December 2020

Mice with a deletion in the first intron of theCol1a1 gene develop dissection and rupture of aorta in the absence of aneurysms: High-resolution magnetic resonance imaging, at 4.7 T, of the aorta and cerebral arteries

1 reference

12 December 2020