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

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

31 Aug 2018

Abstract excerpt

The G4C2-repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. The high phenotypic heterogeneity of C9orf72 patients includes a wide range in age of onset, modifiers of which are largely unknown. Age of onset could be influenced by environmental and genetic factors both of which may trigger DNA methylation changes at CpG sites. We tested the...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer's disease research and treatments
Share to Amyotrophic Lateral Sclerosis Research
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30252044
DOI: 10.1093/brain/awy238

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

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriersPMID 30252044Read ↗

DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patientsSemantic proximity Read ↗

Combined epigenetic/genetic study identified an ALS age of onset modifier.Semantic proximity Read ↗

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Semantic proximity Read ↗

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.Semantic proximity Read ↗

No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers.Semantic proximity Read ↗

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.Semantic proximity Read ↗

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Semantic proximity Read ↗

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansionsSemantic proximity Read ↗

Wild-type <i>C9orf72</i> expression is a genetic modifier of C9-ALS survivalSemantic proximity Read ↗

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.Semantic proximity Read ↗

Age-related penetrance of the C9orf72 repeat expansionSemantic proximity Read ↗

DNA methylation age acceleration is associated with ALS age of onset and survivalSemantic proximity Read ↗

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