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

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

European journal of human genetics : EJHG - 1 Jun 2015

Mullegama Sureni V, Pugliesi Loren, Burns Brooke, Shah Zalak, Tahir Raiha, Gu Yanghong, Nelson David L, Elsea Sarah H

Abstract excerpt

Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith-Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance. We describe the circadian deficits in del 2q23.1 through caregiver surveys in which we identify...

Read the complete abstract on PubMed

Topics

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

Share to Cryptochromes
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Haploinsufficiency

Share to Period Circadian Proteins

Share to Sleep Wake Disorders

Share to Smith-Magenis Syndrome

Share to TOR Serine-Threonine Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 25271084
DOI: 10.1038/ejhg.2014.200
PMCID: PMC4795052

Genes

MBD5
RAI1
FMR1
SMS
CRY2
PER1
PER2
PER3

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

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.PMID 25271084Read ↗

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.Semantic proximity Read ↗

Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.Semantic proximity Read ↗

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].Semantic proximity Read ↗

Shank3 Modulates Sleep and Expression of Circadian Transcription FactorsSemantic proximity Read ↗

Shank3 modulates sleep and expression of circadian transcription factorsSemantic proximity Read ↗

Novel insights from genetic and molecular characterization of the human clock.Semantic proximity Read ↗

New developments in Smith-Magenis syndrome (del 17p11.2).Semantic proximity Read ↗

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.Semantic proximity Read ↗

Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism.Semantic proximity Read ↗

Melatonin as an Interventional Novel Candidate for the Individual with Autistic Fragile X Syndrome in HumanSemantic proximity Read ↗

Haploinsufficiency of a Circadian Clock Gene Bmal1 (Arntl or Mop3) Causes Brain-Wide mTOR Hyperactivation and Autism-like Behavioral Phenotypes in Mice.Semantic proximity Read ↗

Combining Human Epigenetics and Sleep Studies in Caenorhabditis elegans: A Cross-Species Approach for Finding Conserved Genes Regulating SleepSemantic proximity Read ↗

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