(Q24338705)

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High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

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scholarly article

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High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 (English)

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Collagen type II alpha 1 chain

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GOA release 2020-03-11

embryonic skeletal joint morphogenesis

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GOA release 2020-03-11

Stickler syndrome

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based on heuristic

inferred from title

author name string

Allan J Richards

1

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Maureen Laidlaw

2

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Joanne Whittaker

3

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Becky Treacy

4

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Harjeet Rai

5

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Philip Bearcroft

6

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David M Baguley

7

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Arabella Poulson

8

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Alan Ang

9

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John D Scott

10

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Martin P Snead

11

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language of work or name

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publication date

July 2006

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27

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7

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696-704

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

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https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

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https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen XI nucleates self-assembly and limits lateral growth of cartilage fibrils

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https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

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https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

ARPE-19, a human retinal pigment epithelial cell line with differentiated properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Vitreous phenotype: genotype correlation in Stickler syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Vitreous body collagen. Evidence for a dual origin from the neural retina and hyalocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features of type 2 Stickler syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of rhegmatogenous retinal detachment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperconvolution of the inner limiting membrane in vitreomaculopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Small deletions in the type II collagen triple helix produce Kniest dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

Type IIA procollagen containing the cysteine-rich amino propeptide is deposited in the extracellular matrix of prechondrogenic tissue and binds to TGF-beta1 and BMP-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20347

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1002/HUMU.20347

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