[Dyskeratosis congenita: short telomeres are not the rule]. (Q54496749)

30 May 2018

title

[Dyskeratosis congenita: short telomeres are not the rule]. (English)

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30 May 2018

main subject

dyskeratosis congenita

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based on heuristic

inferred from title

author

Jean-Pierre de Villartay

3

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30 May 2018

Patrick Revy

4

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30 May 2018

author name string

Fabien Touzot

1

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30 May 2018

Tangui Le Guen

2

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30 May 2018

language of work or name

French

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publication date

1 June 2012

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30 May 2018

published in

médecine/sciences

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30 May 2018

volume

28

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30 May 2018

issue

6-7

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30 May 2018

page(s)

618-624

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30 May 2018

Telomeres: protecting chromosomes against genome instability

cites work

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012286015

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Extension of life-span by introduction of telomerase into normal human cells

21 January 2018

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A survey of telomerase activity in human cancer

21 January 2018

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Shelterin: the protein complex that shapes and safeguards human telomeres

21 January 2018

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Dyskeratosis congenita in all its forms

21 January 2018

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Dyskeratosis congenita, a disease caused by defective telomere maintenance

21 January 2018

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A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

21 January 2018

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A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

1 reference

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

21 January 2018

1 reference

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Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

21 January 2018

1 reference

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The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1051%2FMEDSCI%2F2012286015

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

21 January 2018

1 reference

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Functional characterization of telomerase RNA variants found in patients with hematologic disorders

21 January 2018

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Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome

21 January 2018

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

21 January 2018

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A role for heterochromatin protein 1γ at human telomeres

21 January 2018

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TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

21 January 2018

1 reference

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Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

21 January 2018

1 reference

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A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

21 January 2018

1 reference

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Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

21 January 2018

1 reference

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TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

21 January 2018

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Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation

21 January 2018

1 reference

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10.1051/MEDSCI/2012286015

21 January 2018

Identifiers

DOI

1 reference

30 May 2018

Erudit article ID

2012286015

0 references

1 reference

30 May 2018