(Q57206675)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17721977%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome (English)

1 reference

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4 January 2020

1 reference

1

1 reference

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4 January 2020

Paul Bishop

3

1 reference

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4 January 2020

Graeme Black

5

1 reference

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4 January 2020

author name string

Marja Majava

2

1 reference

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4 January 2020

Rahat Perveen

4

1 reference

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4 January 2020

Mary Ella Pierpont

6

1 reference

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4 January 2020

Leena Ala-Kokko

7

1 reference

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4 January 2020

Minna Männikkö

8

1 reference

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4 January 2020

publication date

1 January 2008

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4 January 2020

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4 January 2020

volume

29

1 reference

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4 January 2020

issue

1

1 reference

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4 January 2020

page(s)

83-90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17721977%20AND%20SRC:MED&resulttype=core&format=json

Tissue-specific and differential expression of alternatively spliced alpha 1(II) collagen mRNAs in early human embryos.

4 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

Type IIA procollagen amino propeptide is localized in human embryonic tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Identification of alternatively spliced variants of type II procollagen in vitreous

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Mechanisms of alternative pre-messenger RNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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.20603

7 January 2021

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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.20603

7 January 2021

Expression of Sox9 and type IIA procollagen during ocular development and aging in transgenic Del1 mice with a mutation in the type II collagen gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Collagens, modifying enzymes and their mutations in humans, flies and worms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Preferential expression of alternatively spliced mRNAs encoding type II procollagen with a cysteine-rich amino-propeptide in differentiating cartilage and nonchondrogenic tissues during early mouse development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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.20603

7 January 2021

Localization of pN-type IIA procollagen on adult bovine vitreous collagen fibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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.20603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

In situ expression of collagen and proteoglycan genes in notochord and during skeletal development and growth.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Expression of type II and IX collagen isoforms during normal and pathological cartilage and eye development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20603

7 January 2021

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.20603

7 January 2021

Identifiers

DOI

10.1002/HUMU.20603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17721977%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference