Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Telomere biology disorders: time for moving towards the clinic?

Trends in molecular medicine - 1 Oct 2022

Batista Luis F Z, Dokal Inderjeet, Parker Roy

Abstract excerpt

Telomere biology disorders (TBDs) are a group of rare diseases caused by mutations that impair telomere maintenance. Mutations that cause reduced levels of TERC/hTR, the telomerase RNA component, are found in most TBD patients and include loss-of-function mutations in hTR itself, in hTR-binding proteins [NOP10, NHP2, NAF1, ZCCHC8, and dyskerin (DKC1)], and in proteins required for hTR processing (PARN). These...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biology
Share to Cell Cycle Proteins
Share to Dyskeratosis Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nuclear Proteins

Share to RNA-Binding Proteins

Share to Telomerase

Share to Telomere

Source

Open in PubMed Open full text

Identifiers

PMID: 36057525
DOI: 10.1016/j.molmed.2022.08.001
PMCID: PMC9509473

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Telomere biology disorders: time for moving towards the clinic?PMID 36057525Read ↗

Molecular mechanisms of telomere biology disorders.Semantic proximity Read ↗

The genetics and clinical manifestations of telomere biology disorders.Semantic proximity Read ↗

Recent advances in understanding telomere diseasesSemantic proximity Read ↗

Telomere biology disordersSemantic proximity Read ↗

The molecular genetics of the telomere biology disorders.Semantic proximity Read ↗

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

Bone marrow failure and the new telomere diseases: practice and research.Semantic proximity Read ↗

Updates on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

Exosome-mediated decay of unstable long extended precursors of human telomerase RNA is dependent on 5'-cap trimethylation.Semantic proximity Read ↗

An update on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

Telomere biology disorders: from dyskeratosis congenita and beyondSemantic proximity Read ↗

Bone marrow failure and the telomeropathiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.