(Q36278279)

13 August 2017

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title

Dyskeratosis congenita: a disorder of defective telomere maintenance? (English)

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13 August 2017

dyskeratosis congenita

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Amanda J Walne

1

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13 August 2017

Anna Marrone

series ordinal

2

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13 August 2017

Inderjeet Dokal

series ordinal

3

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13 August 2017

1 October 2005

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International Journal of Hematology

13 August 2017

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13 August 2017

82

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13 August 2017

3

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13 August 2017

184-189

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https://scigraph.springernature.com/pub.10.1532/ijh97.05067

13 August 2017

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cites work

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

1 reference

Crossref

https://api.crossref.org/works/10.1532%2FIJH97.05067

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Telomere repeat binding factors: keeping the ends in check

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

Dyskeratosis congenita in all its forms

1 reference

12 December 2020

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

1 reference

12 December 2020

Function, replication and structure of the mammalian telomere

1 reference

12 December 2020

Biogenesis of small nucleolar ribonucleoproteins

1 reference

12 December 2020

NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria

1 reference

12 December 2020

Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cbf5p, the putative pseudouridine synthase of H/ACA-type snoRNPs, can form a complex with Gar1p and Nop10p in absence of Nhp2p and box H/ACA snoRNAs.

1 reference

12 December 2020

Telomerase activity in the regenerative basal layer of the epidermis inhuman skin and in immortal and carcinoma-derived skin keratinocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Telomerase activity in normal and malignant hematopoietic cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Critical aspartic acid residues in pseudouridine synthases.

1 reference

12 December 2020

Severe telomere shortening in patients with paroxysmal nocturnal hemoglobinuria affects both GPI- and GPI+ hematopoiesis

1 reference

12 December 2020

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

1 reference

12 December 2020

The many facets of H/ACA ribonucleoproteins

1 reference

12 December 2020

Telomerase maintains telomere structure in normal human cells.

1 reference

12 December 2020

Analysis of a long-range interaction between conserved domains of human telomerase RNA.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

1 reference

12 December 2020

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

1 reference

12 December 2020

Telomere maintenance and disease

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020

Functional reconstitution of wild-type and mutant Tetrahymena telomerase

1 reference

12 December 2020

Dyskeratosis and ribosomal rebellion

1 reference

12 December 2020

Different role of functional domains of hTR in DNA binding to telomere and telomerase reconstruction.

1 reference

12 December 2020

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita

1 reference

12 December 2020

Identification of a new RNA.RNA interaction site for human telomerase RNA (hTR): structural implications for hTR accumulation and a dyskeratosis congenita point mutation

1 reference

12 December 2020

Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

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12 December 2020

Dyskeratosis congenita

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12 December 2020

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer

1 reference

12 December 2020

Telomerase activity in normal human epithelial cells

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12 December 2020

Telomeres in dyskeratosis congenita.

1 reference

12 December 2020

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

1 reference

12 December 2020

Human telomerase and its regulation

1 reference

12 December 2020

Functional requirement of p23 and Hsp90 in telomerase complexes

1 reference

12 December 2020

The end of the (DNA) line

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12 December 2020

Protection of mammalian telomeres

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Dynamic behavior of the telomerase RNA hairpin structure and its relationship to dyskeratosis congenita

1 reference

12 December 2020

Differential expression of telomerase activity in hematopoietic progenitors from adult human bone marrow

1 reference

12 December 2020

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

1 reference

12 December 2020

Inhibition of telomerase activity by preventing proper assemblage.

1 reference

12 December 2020

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

1 reference

12 December 2020

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

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12 December 2020

Function and synthesis of small nucleolar RNAs

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12 December 2020

Progressive telomere shortening in aplastic anemia

1 reference

12 December 2020

Telomere maintenance mechanisms and cellular immortalization.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

1 reference

12 December 2020

The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.

1 reference

12 December 2020

A telomerase component is defective in the human disease dyskeratosis congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1532/IJH97.05067

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Dimensions Publication ID

13 August 2017

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