(Q24536887)

5 July 2017

title

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

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5 July 2017

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dyskeratosis congenita

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Carol W Greider

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5 July 2017

Ada Hamosh

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5 July 2017

Mary Armanios

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5 July 2017

Jiunn-Liang Chen

1 reference

5 July 2017

author name string

Yen-Pei Christy Chang

1 reference

5 July 2017

Robert A Brodsky

1 reference

5 July 2017

Anita Hawkins

1 reference

5 July 2017

Constance A Griffin

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5 July 2017

James R Eshleman

1 reference

5 July 2017

Alan R Cohen

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5 July 2017

Aravinda Chakravarti

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5 July 2017

language of work or name

English

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publication date

24 October 2005

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Proceedings of the National Academy of Sciences of the United States of America

5 July 2017

published in

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5 July 2017

volume

102

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5 July 2017

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5 July 2017

page(s)

15960-15964

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X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Specific Association of Human Telomerase Activity with Immortal Cells and Cancer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Telomeres shorten during ageing of human fibroblasts

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

A DNA damage checkpoint response in telomere-initiated senescence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Association between telomere length in blood and mortality in people aged 60 years or older

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Telomerase Catalytic Subunit Homologs from Fission Yeast and Human

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Telomere length predicts replicative capacity of human fibroblasts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Phosphorylation of H2AX at short telomeres in T cells and fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Template boundary definition in mammalian telomerase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Determinants in mammalian telomerase RNA that mediate enzyme processivity and cross-species incompatibility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Haploinsufficiency of mTR results in defects in telomere elongation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

A critical stem-loop structure in the CR4-CR5 domain of mammalian telomerase RNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Telomere dysfunction triggers developmentally regulated germ cell apoptosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

Heterogeneity in telomere length of human chromosomes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1276104

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

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0508124102

The Shortest Telomere, Not Average Telomere Length, Is Critical for Cell Viability and Chromosome Stability

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0508124102

The motif D loop of human immunodeficiency virus type 1 reverse transcriptase is critical for nucleoside 5'-triphosphate selectivity

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0508124102

Unusual complications after bone marrow transplantation for dyskeratosis congenita

21 January 2018

1 reference

12 December 2020

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

1 reference

12 December 2020

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

1 reference

12 December 2020

Simultaneous introduction of multiple mutations using overlap extension PCR

1 reference

12 December 2020

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0508124102

1 reference

OpenCitations bibliographic resource ID

5 July 2017

0 references

4441029

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

5 July 2017

1 reference