Discover Community Create You

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

Connecting complex disorders through biology.

Nature genetics - 27 Feb 2012

Savage Sharon A

Abstract excerpt

Mutations in CTC1, which encodes a key telomere component, have been identified as the cause of Coats plus syndrome. This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Genetic Predisposition to Disease
Share to Telomere

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Telomere-Binding Proteins

Source

Identifiers

PMID: 22366859
DOI: 10.1038/ng.2206

Genes

CTC1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Connecting complex disorders through biology.PMID 22366859Read ↗

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Semantic proximity Read ↗

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

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease.Semantic proximity Read ↗

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

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

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.Semantic proximity Read ↗

CTC1 Mutations in a patient with dyskeratosis congenita.Semantic proximity Read ↗

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

Molecular basis of telomere syndrome caused by CTC1 mutations.Semantic proximity Read ↗

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.Semantic proximity Read ↗

Molecular mechanisms of telomere biology disorders.Semantic proximity Read ↗

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Semantic proximity Read ↗

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