(Q28505521)

24 January 2017

title

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (English)

1 reference

Collagen, type VI, alpha 6

24 January 2017

main subject

1 reference

Periostin, osteoblast specific factor

GOA release 2020-03-11

1 reference

Collagen, type VI, alpha 5

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Te-Cheng Pan

1

1 reference

24 January 2017

Rui-Zhu Zhang

2

1 reference

24 January 2017

Machiko Arita

3

1 reference

24 January 2017

Sasha Bogdanovich

4

1 reference

24 January 2017

Sheila M. Adams

5

1 reference

24 January 2017

Sudheer Kumar Gara

6

1 reference

24 January 2017

Raimund Wagener

7

1 reference

24 January 2017

Tejvior S. Khurana

8

1 reference

24 January 2017

David E. Birk

9

1 reference

24 January 2017

Mon-Li Chu

10

1 reference

24 January 2017

language of work or name

English

0 references

publication date

11 April 2014

1 reference

Journal of Biological Chemistry

24 January 2017

published in

1 reference

24 January 2017

volume

289

1 reference

24 January 2017

issue

15

1 reference

24 January 2017

page(s)

10293–10307

1 reference

describes a project that uses

24 January 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4036154/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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19 March 2017

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Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy termi

19 March 2017

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COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

29 September 2017

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29 September 2017

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Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy

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2 June 2018

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21 January 2018

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

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Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

21 January 2018

1 reference

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

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Functional improvement of dystrophic muscle by myostatin blockade.

21 January 2018

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Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C.

21 January 2018

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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Tendon cell array isolation reveals a previously unknown fibrillin-2-containing macromolecular assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.549311

Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24563484