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Article

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 3 Sept 2013

Deng Zhong, Glousker Galina, Molczan Aliah, Fox Alan J, Lamm Noa, Dheekollu Jayaraju, Weizman Orr-El, Schertzer Michael, Wang Zhuo, Vladimirova Olga, Schug Jonathan, Aker Memet, Londoño-Vallejo Arturo, Kaestner Klaus H, Lieberman Paul M, Tzfati Yehuda

Abstract excerpt

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23959892
DOI: 10.1073/pnas.1300600110
PMCID: PMC3767560

Genes

RTEL1

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.PMID 23959892Read ↗

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

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

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

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.Semantic proximity Read ↗

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

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

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

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

TRF2 Recruits RTEL1 to Telomeres in S Phase to Promote T-Loop UnwindingSemantic proximity Read ↗

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