Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita (Q34452324)

2 August 2017

title

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita (English)

1 reference

2 August 2017

2

Sharon A Savage

1 reference

2 August 2017

9

Steven E Artandi

1 reference

2 August 2017

Franklin Zhong

1

1 reference

2 August 2017

Marina Shkreli

3

1 reference

2 August 2017

Neelam Giri

4

1 reference

2 August 2017

Lea Jessop

5

1 reference

2 August 2017

Timothy Myers

6

1 reference

2 August 2017

Renee Chen

7

1 reference

2 August 2017

Blanche P Alter

8

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2 August 2017

publication date

1 January 2011

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2 August 2017

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2 August 2017

volume

25

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2 August 2017

issue

1

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2 August 2017

page(s)

11-16

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MutationTaster evaluates disease-causing potential of sequence alterations

2 August 2017

cites work

1 reference

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6 July 2018

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WD40 proteins propel cellular networks.

6 July 2018

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Linking functional decline of telomeres, mitochondria and stem cells during ageing

6 July 2018

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6 July 2018

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A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles

6 July 2018

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Advances in the understanding of dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis

6 July 2018

1 reference

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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

6 July 2018

1 reference

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Telomerase reverse transcriptase is required for the localization of telomerase RNA to cajal bodies and telomeres in human cancer cells

6 July 2018

1 reference

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Structural and functional characterization of human telomerase RNA processing and cajal body localization signals

6 July 2018

1 reference

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Adult-onset pulmonary fibrosis caused by mutations in telomerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Telomerase mutations in families with idiopathic pulmonary fibrosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs

6 July 2018

1 reference

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Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs

6 July 2018

1 reference

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Cell cycle-regulated trafficking of human telomerase to telomeres

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres

6 July 2018

1 reference

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Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

6 July 2018

1 reference

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Regulation of telomerase by telomeric proteins

6 July 2018

1 reference

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Telomerase RNA Accumulates in Cajal Bodies in Human Cancer Cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

A telomerase component is defective in the human disease dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Essential role of mouse telomerase in highly proliferative organs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

Human telomerase RNA and box H/ACA scaRNAs share a common Cajal body-specific localization signal.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012932

27 October 2018

Dyskeratosis congenita

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21205863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human telomerase RNA accumulation in Cajal bodies facilitates telomerase recruitment to telomeres and telomere elongation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21205863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GAD.2006411

1 reference

2 August 2017

1 reference

2 August 2017

1 reference