Constitutional mutations in RTEL1 cause severe dyskeratosis congenita (Q24321641)

GOA release 2020-03-11

telomere maintenance

1 reference

GOA release 2020-03-11

dyskeratosis congenita

1 reference

4

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author name string

Amanda J Walne

1

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Tom Vulliamy

2

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Michael Kirwan

3

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Inderjeet Dokal

American Journal of Human Genetics

5

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language of work or name

English

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publication date

7 March 2013

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published in

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volume

92

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issue

3

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page(s)

448-53

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cites work

The genetics of dyskeratosis congenita

1 reference

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Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology

19 March 2017

1 reference

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Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome

19 March 2017

1 reference

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Mammalian telomeres end in a large duplex loop

19 March 2017

1 reference

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Normal mammalian cells negatively regulate telomere length by telomere trimming

19 March 2017

1 reference

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

19 March 2017

1 reference

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Shelterin: the protein complex that shapes and safeguards human telomeres

19 March 2017

1 reference

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

19 March 2017

1 reference

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Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein

19 March 2017

1 reference

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RTEL1 contributes to DNA replication and repair and telomere maintenance.

19 March 2017

1 reference

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CTC1 Mutations in a patient with dyskeratosis congenita.

27 September 2017

1 reference

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Dyskeratosis congenita as a disorder of telomere maintenance

27 September 2017

1 reference

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The genetics and clinical manifestations of telomere biology disorders

27 September 2017

1 reference

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RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination

27 September 2017

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

27 September 2017

1 reference

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Telomeres: structures in need of unwinding

27 September 2017

1 reference

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Telomere length measurement by a novel monochrome multiplex quantitative PCR method

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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30 May 2018

Dyskeratosis Congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591859

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

29 November 2018

1 reference

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23453664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ku suppresses formation of telomeric circles and alternative telomere lengthening in Arabidopsis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23453664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.02.001

1 reference

1 reference

1 reference

PubMed publication ID

23453664

1 reference