(Q24534459)

English

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix

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scholarly article

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Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix (English)

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Stickler syndrome

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

A J Richards

1

author given names

A J

author last names

Richards

1 reference

PubMed publication ID

5 December 2023

D M Baguley

2

author given names

D M

author last names

Baguley

1 reference

PubMed publication ID

5 December 2023

J R Yates

3

author given names

J R

author last names

Yates

1 reference

PubMed publication ID

5 December 2023

C Lane

4

author given names

C

author last names

Lane

1 reference

PubMed publication ID

5 December 2023

M Nicol

5

author given names

M

author last names

Nicol

1 reference

PubMed publication ID

5 December 2023

P S Harper

6

author given names

P S

author last names

Harper

1 reference

PubMed publication ID

5 December 2023

J D Scott

7

author given names

J D

author last names

Scott

1 reference

PubMed publication ID

5 December 2023

M P Snead

8

author given names

M P

author last names

Snead

1 reference

PubMed publication ID

5 December 2023

language of work or name

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publication date

November 2000

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American Journal of Human Genetics

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67

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5

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1083-94

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

Clinical and Molecular genetics of Stickler syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Duke-Elder lecture. Prevention and perspective in retinal detachment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

27 September 2017

An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

30 May 2018

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

28 July 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

28 July 2018

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

29 November 2018

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

29 November 2018

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288550

29 November 2018

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Organization of the rabbit vitreous body: lamellae, Cloquet's channel and a novel structure, the 'alae canalis Cloqueti'

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Distinctive cataract in the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Structural analysis of cross-linking domains in cartilage type XI collagen. Insights on polymeric assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962938-3

7 January 2021

Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous

1 reference

https://pubmed.ncbi.nlm.nih.gov/11007540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11007540

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/S0002-9297(07)62938-3

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_ehhanaq7ujcctbhywwes424qb4

0 references

release_kxg7ot77afdthaplpcdj3rfxha

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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