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

CTC 1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

1 Nov 2018

Abstract excerpt

BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis and replication. METHODS: A Brazilian pedigree and an Australian pedigree were referred to the International...

Read the complete abstract on PubMed

Topics

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

Share to Mitochondrial Function and Pathology
Share to Retinal Development and Disorders
Share to Telomeres, Telomerase, and Senescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30393977
DOI: 10.1002/mgg3.495

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CTC 1 mutations in a Brazilian family with progeroid features and recurrent bone fracturesPMID 30393977Read ↗

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

Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Semantic proximity Read ↗

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.Semantic proximity Read ↗

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.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 ↗

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 ↗

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.Semantic proximity Read ↗

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

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

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

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

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