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Article

RTEL1: functions of a disease-associated helicase.

Trends in cell biology - 1 Jul 2014

Vannier Jean-Baptiste, Sarek Grzegorz, Boulton Simon J

Abstract excerpt

DNA secondary structures that arise during DNA replication, repair, and recombination (3R) must be processed correctly to prevent genetic instability. Regulator of telomere length 1 (RTEL1) is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate 3R processes and to maintain telomere integrity. The past few years have witnessed the emergence of RTEL1 variants that confer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24582487
DOI: 10.1016/j.tcb.2014.01.004

Genes

RTEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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RTEL1: functions of a disease-associated helicase.PMID 24582487Read ↗

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

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

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

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

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

A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.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 ↗

DNA repair helicases: from mechanistic understanding to therapeutic implications.Semantic proximity Read ↗

Germline RTEL1 Variants in Telomere Biology Disorders.Semantic proximity Read ↗

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