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Article

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Medecine sciences : M/S - 1 Dec 2013

Le Guen Tangui, Jullien Laurent, Schertzer Mike, Lefebvre Axelle, Kermasson Laetitia, de Villartay Jean-Pierre, Londoño-Vallejo Arturo, Revy Patrick

Abstract excerpt

RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24356145
DOI: 10.1051/medsci/20132912018

Genes

RTEL1

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Related research

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Click a neighbor to travelStep 1 · 12 closest

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].PMID 24356145Read ↗

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.Semantic proximity Read ↗

Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.Semantic proximity Read ↗

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Semantic proximity Read ↗

RTEL1: functions of a disease-associated helicase.Semantic proximity Read ↗

The many faces of the helicase RTEL1 at telomeres and beyond.Semantic proximity Read ↗

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaSemantic proximity Read ↗

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.Semantic proximity Read ↗

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.Semantic proximity Read ↗

Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomeraseSemantic proximity Read ↗

RTEL1 maintains genomic stability by suppressing homologous recombination.Semantic proximity Read ↗

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Semantic proximity Read ↗

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