COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. (Q34614928)

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

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28 December 2019

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

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28 December 2019

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28 December 2019

Raymond P Boot-Handford

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28 December 2019

Kenneth M Cheung

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28 December 2019

author name string

Matthew S P Ho

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28 December 2019

Kwok Yeung Tsang

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28 December 2019

Rebecca L K Lo

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28 December 2019

Miki Susic

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28 December 2019

Tori W Y Chan

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28 December 2019

Vivian C W Ng

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28 December 2019

David O Sillence

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28 December 2019

Gary Gibson

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28 December 2019

William G Cole

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28 December 2019

Kathryn S E Cheah

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28 December 2019

Danny Chan

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28 December 2019

publication date

2 April 2007

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28 December 2019

Human Molecular Genetics

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28 December 2019

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10

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28 December 2019

1201-1215

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28 December 2019

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Phenotypic and biochemical consequences of collagen X mutations in mice and humans.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

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/10.1093%2FHMG%2FDDM067

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

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/10.1093%2FHMG%2FDDM067

21 January 2018

Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Orchestrating the unfolded protein response in health and disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Activation of an unfolded protein response during differentiation of antibody-secreting B cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Reaching a genetic and molecular understanding of skeletal development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Regulatory mechanisms in the pathways of cartilage and bone formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

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/10.1093%2FHMG%2FDDM067

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/10.1093%2FHMG%2FDDM067

21 January 2018

Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

The unfolded protein response in protein aggregating diseases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

The unfolded protein response in nutrient sensing and differentiation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Discordance of UPR signaling by ATF6 and Ire1p-XBP1 with levels of target transcripts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Multiple signals induce endoplasmic reticulum stress in both primary and immortalized chondrocytes resulting in loss of differentiation, impaired cell growth, and apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Connective tissue growth factor coordinates chondrogenesis and angiogenesis during skeletal development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

The unfolded protein response represses differentiation through the RPD3-SIN3 histone deacetylase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM067

21 January 2018

Identifiers

10.1093/HMG/DDM067

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28 December 2019

1 reference

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28 December 2019

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