(Q53489453)

14 May 2018

title

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

1 reference

14 May 2018

author

Kirsty K O'Brien

4

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14 May 2018

Cecilia Jimenez-Mallebrera

8

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14 May 2018

Kevin M. Flanigan

16

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14 May 2018

author name string

A K Lampe

1

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14 May 2018

Y Zou

2

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14 May 2018

D Sudano

3

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14 May 2018

D Hicks

5

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14 May 2018

S H Laval

6

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14 May 2018

R Charlton

7

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14 May 2018

R-Z Zhang

9

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14 May 2018

R S Finkel

10

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14 May 2018

G Tennekoon

11

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14 May 2018

G Schreiber

12

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14 May 2018

M S van der Knaap

13

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14 May 2018

H Marks

14

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14 May 2018

V Straub

15

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14 May 2018

M-L Chu

17

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14 May 2018

F Muntoni

18

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14 May 2018

K M D Bushby

19

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14 May 2018

C G Bönnemann

20

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14 May 2018

publication date

1 June 2008

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14 May 2018

published in

Human Mutation

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14 May 2018

volume

29

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14 May 2018

issue

6

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14 May 2018

page(s)

809-822

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14 May 2018

Electron-microscopical approach to a structural model of intima collagen

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

Ullrich disease due to deficiency of collagen VI in the sarcolemma

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20704

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

The structure of type VI collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Secretion and matrix assembly of recombinant type VI collagen.

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Molecular assembly, secretion, and matrix deposition of type VI collagen

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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.20704

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Collagen VI related muscle disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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.20704

7 January 2021

A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Amino acid propensities for the collagen triple-helix

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Immunochemistry, genuine size and tissue localization of collagen VI.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20704

7 January 2021

Identifiers

DOI

10.1002/HUMU.20704

1 reference

14 May 2018

1 reference

14 May 2018