Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains (Q59313429)

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English	Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains	article

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

1

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14 February 2020

author name string

Miki Susic

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

William G Cole

3

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Europe PubMed Central

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14 February 2020

publication date

1 November 2010

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14 February 2020

Journal of Orthopaedic Research

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

28

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14 February 2020

11

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14 February 2020

1497-1501

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

1 reference

https://api.crossref.org/works/10.1002/JOR.21161

21 January 2018

Identifiers

10.1002/JOR.21161

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20872587 AND SRC:MED&resulttype=core&format=json

14 February 2020

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