(Q35903229)

English

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

scientific article published in November 2013

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1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Kathryn J Swoboda

10

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Kathryn J Swoboda

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Europe PubMed Central

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11 August 2017

author name string

Russell J Butterfield

1

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Europe PubMed Central

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11 August 2017

A Reghan Foley

2

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Europe PubMed Central

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11 August 2017

Jahannaz Dastgir

3

1 reference

Europe PubMed Central

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11 August 2017

Stephanie Asman

4

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Europe PubMed Central

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11 August 2017

Diane M Dunn

5

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Europe PubMed Central

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11 August 2017

Yaqun Zou

6

1 reference

Europe PubMed Central

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11 August 2017

Ying Hu

7

1 reference

Europe PubMed Central

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11 August 2017

Sandra Donkervoort

8

1 reference

Europe PubMed Central

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11 August 2017

Kevin M Flanigan

9

1 reference

Europe PubMed Central

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11 August 2017

Thomas L Winder

11

1 reference

Europe PubMed Central

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11 August 2017

Robert B Weiss

12

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Europe PubMed Central

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11 August 2017

Carsten G Bönnemann

13

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Europe PubMed Central

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11 August 2017

language of work or name

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1 November 2013

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Europe PubMed Central

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11 August 2017

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Europe PubMed Central

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11 August 2017

34

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Europe PubMed Central

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11 August 2017

11

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11 August 2017

1558-1567

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Collagen VI, conformation of A-domain arrays and microfibril architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Early onset collagen VI myopathies: Genetic and clinical correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Natural history of Ullrich congenital muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

A refined diagnostic algorithm for Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Collagen VI related muscle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Type-IV collagen related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

A new twist in the collagen story--the type VI segmented supercoil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

The structure of type VI collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

11 July 2018

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

24 September 2018

The supramolecular organization of collagen VI microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

24 September 2018

Wide variations in neighbor-dependent substitution rates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520221

24 September 2018

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22429

21 January 2018

Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/24038877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence dependence of renucleation after a Gly mutation in model collagen peptides

1 reference

https://pubmed.ncbi.nlm.nih.gov/24038877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22429

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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