Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (Q33744396)

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17 January 2020

title

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant (English)

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Ullrich congenital muscular dystrophy

17 January 2020

main subject

congenital disorder

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author

Stefano Squarzoni

7

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17 January 2020

Suely K Marie

9

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17 January 2020

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Andrzej Fertala

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17 January 2020

author name string

Rui-Zhu Zhang

1

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17 January 2020

Yaqun Zou

2

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17 January 2020

Te-Cheng Pan

3

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17 January 2020

Dessislava Markova

4

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17 January 2020

Ying Hu

6

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17 January 2020

Umbertina Conti Reed

8

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17 January 2020

Carsten G Bönnemann

10

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17 January 2020

Mon-Li Chu

11

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17 January 2020

language of work or name

English

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publication date

27 January 2010

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Journal of Biological Chemistry

17 January 2020

published in

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17 January 2020

volume

285

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17 January 2020

issue

13

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17 January 2020

page(s)

10005-10015

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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Regulation of outside-in signaling and affinity by the beta2 I domain of integrin alphaLbeta2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Collagen VI related muscle disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

The congenital muscular dystrophies in 2004: a century of exciting progress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Structure and allosteric regulation of the X 2 integrin I domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Structural basis of type VI collagen dimer formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Integrin activation and structural rearrangement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Crystal structure of the A domain from the alpha subunit of integrin CR3 (CD11b/CD18)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Crystal structure of the I-domain from the CD11a/CD18 (LFA-1, alpha L beta 2) integrin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

Three novel collagen VI chains with high homology to the alpha3 chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843164

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

30 October 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

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.M109.093666

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.093666

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding

21 January 2018

1 reference

12 December 2020

Frameshift mutation in the collagen VI gene causes Ullrich's disease

1 reference

12 December 2020

Calculation of the electric potential in the active site cleft due to alpha-helix dipoles

1 reference

12 December 2020

Diagnosis and etiology of congenital muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M109.093666

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20106987%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20106987%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

20106987

1 reference