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 (Q24655796)

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English	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	scientific article

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3 January 2020

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 (English)

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3 January 2020

Schmid metaphyseal chondrodysplasia

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John F. Bateman

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3 January 2020

Shireen R Lamandé

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Shireen R Lamandé

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Jacqueline T Tan

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3 January 2020

Friederike Kremer

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3 January 2020

Susanna Freddi

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3 January 2020

Katrina M Bell

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3 January 2020

Naomi L Baker

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3 January 2020

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21 February 2008

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3 January 2020

American Journal of Human Genetics

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3 January 2020

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3 January 2020

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3 January 2020

786-793

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3 January 2020

Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay

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7 April 2017

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

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7 April 2017

The nonsense-mediated decay RNA surveillance pathway

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7 April 2017

Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay

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7 April 2017

Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities

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7 April 2017

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

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7 April 2017

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

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7 April 2017

The cap-to-tail guide to mRNA turnover

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7 April 2017

Nonsense-mediated mRNA decay in health and disease

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7 April 2017

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

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7 April 2017

Staufen1 regulates diverse classes of mammalian transcripts

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28 September 2017

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

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28 September 2017

Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function

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28 September 2017

Post-transcriptional control of Cited2 by transforming growth factor beta. Regulation via Smads and Cited2 coding region.

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28 September 2017

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

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28 September 2017

Nonsense-mediated mRNA decay in mammals

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28 September 2017

New insights into the formation of active nonsense-mediated decay complexes.

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28 September 2017

NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on.

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28 September 2017

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

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28 September 2017

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

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28 September 2017

An open reading frame element mediates posttranscriptional regulation of tropoelastin and responsiveness to transforming growth factor beta1.

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

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28 September 2017

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

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28 September 2017

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

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28 September 2017

Identifying the right stop: determining how the surveillance complex recognizes and degrades an aberrant mRNA.

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28 September 2017

Characterization of cis-acting sequences and decay intermediates involved in nonsense-mediated mRNA turnover

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28 September 2017

Type X collagen gene expression in mouse chondrocytes immortalized by a temperature-sensitive simian virus 40 large tumor antigen

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28 September 2017

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

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28 September 2017

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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28 September 2017

Intron-exon structure, alternative use of promoter and expression of the mouse collagen X gene, Col10a-1.

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30 May 2018

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

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28 November 2018

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28 November 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

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28 November 2018

A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay

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28 November 2018

Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid

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28 November 2018

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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12 December 2020

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Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia

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12 December 2020

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Nonsense-mediated mRNA decay

1 reference

https://pubmed.ncbi.nlm.nih.gov/18304492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cycle of nonsense

1 reference

https://pubmed.ncbi.nlm.nih.gov/18304492

12 December 2020

based on heuristic

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mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor

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12 December 2020

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The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

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https://pubmed.ncbi.nlm.nih.gov/18304492

12 December 2020

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Identifiers

10.1016/J.AJHG.2008.01.006

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3 January 2020

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3 January 2020

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3 January 2020

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