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

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Neurobiology of aging - 1 Oct 2016

Bras Jose, Djaldetti Ruth, Alves Ana Margarida, Mead Simon, Darwent Lee, Lleo Alberto, Molinuevo Jose Luis, Blesa Rafael, Singleton Andrew, Hardy John, Clarimon Jordi, Guerreiro Rita

Abstract excerpt

We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD). In this analysis, we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset AD in these cases. We have now performed exome...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Homozygote

Share to Neuronal Ceroid-Lipofuscinoses

Share to Sequence Analysis

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 27524508
DOI: 10.1016/j.neurobiolaging.2016.06.018
PMCID: PMC5166571

Genes

CTSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.PMID 27524508Read ↗

Whole-Exome Sequencing Analysis of Alzheimer's Disease in Non-APOE*4 Carriers.Semantic proximity Read ↗

Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk VariantsSemantic proximity Read ↗

Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.Semantic proximity Read ↗

Exome sequencing identifies risk variants for AD.Semantic proximity Read ↗

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.Semantic proximity Read ↗

Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects.Semantic proximity Read ↗

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.Semantic proximity Read ↗

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's diseaseSemantic proximity Read ↗

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.Semantic proximity Read ↗

Functional characterization of a single nucleotide polymorphism associated with Alzheimer's disease in a hiPSC-based neuron model.Semantic proximity Read ↗

Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.Semantic proximity Read ↗

Next Generation Sequencing in Alzheimer's Disease.Semantic proximity Read ↗

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