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Article

Pathogenic CTC1 mutations cause global genome instabilities under replication stress.

Nucleic acids research - 4 May 2018

Wang Yuan, Chai Weihang

Abstract excerpt

Coats plus syndrome is a complex genetic disorder that can be caused by mutations in genes encoding the CTC1-STN1-TEN1 (CST) complex, a conserved single-stranded DNA binding protein complex. Studies have demonstrated that mutations identified in Coats plus patients are defective in telomere maintenance, and concluded that Coats plus may be caused by telomere dysfunction. Recent studies have established that CST...

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Source

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Identifiers

PMID: 29481669
DOI: 10.1093/nar/gky114
PMCID: PMC5934659

Genes

CTC1
RAD51
STN1
TEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic CTC1 mutations cause global genome instabilities under replication stress.PMID 29481669Read ↗

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

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

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

Human CST Facilitates Genome-wide RAD51 Recruitment to GC-Rich Repetitive Sequences in Response to Replication StressSemantic proximity Read ↗

Emerging roles of CST in maintaining genome stability and human disease.Semantic proximity Read ↗

Conditional deletion of human STN1 leads to telomere dysfunction and telomerase-dependent genome instability and proliferation defectsSemantic proximity Read ↗

CTC1-mediated C-strand fill-in is an essential step in telomere length maintenanceSemantic proximity Read ↗

Human CST suppresses origin licensing and promotes AND-1/Ctf4 chromatin associationSemantic proximity Read ↗

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

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.Semantic proximity Read ↗

Mammalian CST averts replication failure by preventing G-quadruplex accumulationSemantic proximity Read ↗

Human TEN1 Maintains Telomere Integrity and Functions in Genome-wide Replication RestartSemantic proximity Read ↗

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