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Article

Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Haematologica - 1 Mar 2013

Walne Amanda J, Bhagat Tanya, Kirwan Michael, Gitiaux Cyril, Desguerre Isabelle, Leonard Norma, Nogales Elena, Vulliamy Tom, Dokal Inderjeet S

Abstract excerpt

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats...

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Topics

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Share to Anemia, Aplastic
Share to Bone Marrow Diseases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dyskeratosis Congenita

Share to Hemoglobinuria, Paroxysmal

Share to Telomere

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Source

Open in PubMed Open full text

Identifiers

PMID: 22899577
DOI: 10.3324/haematol.2012.071068
PMCID: PMC3659926

Genes

CTC1
STN1
TEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22899577-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Mutations in the telomere capping complex in bone marrow failure and related syndromes.PMID 22899577Read ↗

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 ↗

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 ↗

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

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenitaSemantic proximity Read ↗

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.Semantic proximity Read ↗

Pathogenic CTC1 mutations cause global genome instabilities under replication stress.Semantic proximity Read ↗

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

Connecting complex disorders through biology.Semantic proximity Read ↗

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.Semantic proximity Read ↗

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.Semantic proximity Read ↗

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