Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita (Q24653935)

2

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Michael Kirwan

3

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Anna Marrone

4

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Martin Digweed

5

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Amanda Walne

6

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Inderjeet Dokal

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

7

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language of work or name

English

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publication date

10 June 2008

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published in

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volume

105

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page(s)

8073-8

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issue

23

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cites work

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

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

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Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

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

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Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins

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Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10

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In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs

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A telomerase component is defective in the human disease dyskeratosis congenita

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Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs

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

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Accumulation of H/ACA snoRNPs depends on the integrity of the conserved central domain of the RNA-binding protein Nhp2p.

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

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

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Telomerase mutations in families with idiopathic pulmonary fibrosis

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Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

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Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex

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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

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Adult-onset pulmonary fibrosis caused by mutations in telomerase

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Dyskerin expression influences the level of ribosomal RNA pseudo-uridylation and telomerase RNA component in human breast cancer.

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Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita

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Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

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Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p

28 September 2017

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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

30 May 2018

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Delineation of complex chromosomal rearrangements: evidence for increased complexity

21 January 2018

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Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs

21 January 2018

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Crystal structure of an H/ACA box ribonucleoprotein particle.

21 January 2018

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

21 January 2018

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21 January 2018

Dyskeratosis congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Dyskeratosis congenita. A disease of premature ageing

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12 December 2020

Identifiers

DOI

10.1073/PNAS.0800042105

1 reference

1273629

ADS bibcode

2008PNAS..105.8073V

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1273629

1 reference

1 reference

1 reference