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Article

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

Aging cell - 1 Dec 2013

Gu Peili, Chang Sandy

Abstract excerpt

Coats plus is a rare recessive disorder characterized by intracranial calcifications, hematological abnormalities, and retinal vascular defects. This disease results from mutations in CTC1, a member of the CTC1-STN1-TEN1 (CST) complex critical for telomere replication. Telomeres are specialized D...

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Source

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Identifiers

PMID: 23869908
DOI: 10.1111/acel.12139
PMCID: PMC4083614

Genes

CTC1
STN1
TEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23869908-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.PMID 23869908Read ↗

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Mutations in the telomere capping complex in bone marrow failure and related syndromes.Semantic proximity Read ↗

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

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

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.Semantic proximity Read ↗

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