(Q38115589)

29 August 2017

title

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders (English)

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29 August 2017

main subject

dyskeratosis congenita

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2

Sharon A Savage

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29 August 2017

Bari J Ballew

1

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29 August 2017

publication date

1 June 2013

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Expert Review of Hematology

29 August 2017

published in

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29 August 2017

volume

6

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29 August 2017

issue

3

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29 August 2017

page(s)

327-337

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

29 August 2017

cites work

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A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Cancer in dyskeratosis congenita

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

21 January 2018

1 reference

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

21 January 2018

1 reference

Adult-onset pulmonary fibrosis caused by mutations in telomerase

21 January 2018

1 reference

Telomerase mutations in families with idiopathic pulmonary fibrosis

21 January 2018

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A spectrum of severe familial liver disorders associate with telomerase mutations

21 January 2018

1 reference

Conservation of the human telomere sequence (TTAGGG)n among vertebrates

21 January 2018

1 reference

Normal human chromosomes have long G-rich telomeric overhangs at one end

21 January 2018

1 reference

A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon

21 January 2018

1 reference

Origin of Concatemeric T7DNA

21 January 2018

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The serial cultivation of human diploid cell strains

21 January 2018

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A mutant with a defect in telomere elongation leads to senescence in yeast

21 January 2018

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Does a sentinel or a subset of short telomeres determine replicative senescence?

21 January 2018

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NEJ1 prevents NHEJ-dependent telomere fusions in yeast without telomerase

21 January 2018

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Genetic regulation of telomere-telomere fusions in the yeast Saccharomyces cerevisae

21 January 2018

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The telomerase reverse transcriptase: components and regulation

21 January 2018

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Telomeres and telomerase: their mechanisms of action and the effects of altering their functions

21 January 2018

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The box H/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification

21 January 2018

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A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis

21 January 2018

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SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

21 January 2018

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Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly

21 January 2018

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

21 January 2018

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

21 January 2018

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Syndromes of telomere shortening

21 January 2018

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The genetics and clinical manifestations of telomere biology disorders

21 January 2018

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Dyskeratosis congenita as a disorder of telomere maintenance

21 January 2018

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

21 January 2018

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Human telomere disease due to disruption of the CCAAT box of the TERC promoter

21 January 2018

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Disruption of telomerase trafficking by TCAB1 mutation causes 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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Connecting complex disorders through biology.

21 January 2018

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CTC1 Mutations in a patient with dyskeratosis congenita.

21 January 2018

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Mutations in the telomere capping complex in bone marrow failure and related syndromes

21 January 2018

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

21 January 2018

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RTEL1 contributes to DNA replication and repair and telomere maintenance.

21 January 2018

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RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity

21 January 2018

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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

21 January 2018

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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

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

21 January 2018

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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

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

21 January 2018

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The effect of TERC haploinsufficiency on the inheritance of telomere length

21 January 2018

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Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

21 January 2018

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DYSKERATOSIS CONGENITA. FIRST REPORT OF ITS OCCURRENCE IN A FEMALE AND A REVIEW OF THE LITERATURE.

21 January 2018

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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

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Oral and dental phenotype of dyskeratosis congenita

21 January 2018

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Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita

21 January 2018

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Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

21 January 2018

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

21 January 2018

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The telomere length dynamic and methods of its assessment.

21 January 2018

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New developments in telomere length analysis.

21 January 2018

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

21 January 2018

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Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

21 January 2018

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Proliferative retinopathy as a complication of dyskeratosis congenita

21 January 2018

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Short telomeres are a risk factor for idiopathic pulmonary fibrosis

21 January 2018

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Dyskeratosis congenita: the first NIH clinical research workshop

21 January 2018

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Pathophysiology and management of inherited bone marrow failure syndromes

21 January 2018

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Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita

21 January 2018

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Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita

21 January 2018

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Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

21 January 2018

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All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative.

21 January 2018

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Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor.

21 January 2018

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Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

21 January 2018

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

21 January 2018

1 reference

21 January 2018

Dyskeratosis congenita

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21 January 2018

Identifiers

DOI

10.1586/EHM.13.23

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release_3inf6kjvkzai5owswafuzx6h4u

29 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/3inf6kjvkzai5owswafuzx6h4u

mapped directly with Wikidata item

24 November 2022

based on heuristic

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