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

Sleep disturbances associated with DEAF1 pathogenic variants.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 1 Jan 2025

Guerreiro Pedro, Moysés-Oliveira Mariana, Paschalidis Mayara, Kloster Anna, Cunha Lais, Deconto Tais Bassani, Mosini Amanda Cristina, Marquezini Bruna Pereira, Adami Luana Nayara Gallego, Andersen Monica L, Tufik Sergio

Abstract excerpt

Neurodevelopmental disorders and sleep disturbances share genetic risk factors. DEAF1 genetic variants are associated with rare syndromes in which sleep disturbances are commonly reported, yet the specific sleep disorders in these patients, and the molecular mechanisms underlying this association, are unknown. We aimed to pinpoint specific biological processes that may be disrupted by pathogenic variants in this...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Binding Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Sleep Wake Disorders

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 39172073
DOI: 10.5664/jcsm.11316
PMCID: PMC11701283

Genes

DEAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sleep disturbances associated with DEAF1 pathogenic variants.PMID 39172073Read ↗

Integrative genomics analysis identifies five promising genes implicated in insomnia risk based on multiple omics datasets.Semantic proximity Read ↗

Elucidating sleep disorders: a comprehensive bioinformatics analysis of functional gene sets and hub genesSemantic proximity Read ↗

Shared Genetic Links Between Sleep, Neurodevelopmental and Neuropsychiatric Conditions: A Genome-Wide and Pathway-Based Polygenic Score Analysis.Semantic proximity Read ↗

Biological and clinical insights from genetics of insomnia symptomsSemantic proximity Read ↗

Neurodevelopment as a shared genetic etiology linking sleep-related phenotypes and psychiatric disorders: a genome-wide pleiotropic analysis.Semantic proximity Read ↗

Perturbation of the insomnia WDR90 genome-wide association studies locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q.Semantic proximity Read ↗

From single nucleotide variations to genes: identifying the genetic links between sleep and psychiatric disorders.Semantic proximity Read ↗

Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits.Semantic proximity Read ↗

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea SubtypeSemantic proximity Read ↗

The relationship between insomnia and complex diseases—insights from genetic dataSemantic proximity Read ↗

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea SubtypeSemantic proximity Read ↗

Transcriptome-wide association study identifies novel susceptibility genes contributing to hearing impairmentSemantic proximity Read ↗

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