(Q34023475)

30 July 2017

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations (English)

1 reference

30 July 2017

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Tom J Vulliamy

1

1 reference

30 July 2017

Michael J Kirwan

2

1 reference

30 July 2017

Richard Beswick

3

1 reference

30 July 2017

Upal Hossain

4

1 reference

30 July 2017

Charlotte Baqai

5

1 reference

30 July 2017

Anna Ratcliffe

6

1 reference

30 July 2017

Judith Marsh

7

1 reference

30 July 2017

Amanda Walne

8

1 reference

30 July 2017

Inderjeet Dokal

9

1 reference

30 July 2017

language of work or name

English

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publication date

13 September 2011

1 reference

30 July 2017

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30 July 2017

6

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30 July 2017

9

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30 July 2017

e24383

1 reference

Creative Commons Attribution 4.0 International

30 July 2017

start time

13 September 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

A spectrum of severe familial liver disorders associate with telomerase mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomeres and telomerase in cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

28 July 2018

Telomeres and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Dyskeratosis congenita: the first NIH clinical research workshop

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Syndromes of telomere shortening

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Cancer in dyskeratosis congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomere length measurement by a novel monochrome multiplex quantitative PCR method

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Cellular senescence: when bad things happen to good cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Adult-onset pulmonary fibrosis caused by mutations in telomerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Protein composition of catalytically active human telomerase from immortal cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomerase mutations in families with idiopathic pulmonary fibrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

The effect of TERC haploinsufficiency on the inheritance of telomere length

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Shelterin: the protein complex that shapes and safeguards human telomeres

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Senescence and immortalization: role of telomeres and telomerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Dyskeratosis congenita in all its forms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

A telomerase component is defective in the human disease dyskeratosis congenita

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

TIN2, a new regulator of telomere length in human cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomeres, telomerase, and aging: origin of the theory

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Function and synthesis of small nucleolar RNAs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Switching and signaling at the telomere

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024383

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172236

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

29 October 2018

1 reference

12 December 2020

Functional characterization of natural telomerase mutations found in patients with hematologic disorders

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0024383

Identifiers

DOI

1 reference

30 July 2017

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1 reference

30 July 2017

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