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

Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay.

Clinical genetics - 1 Sept 2024

Zhou Wei, Wang Chunli, Fu Luhan, Shi Wei, Zhang Aihua, Jia Zhanjun, Zhao Xiaoke, Fu Dalin, Zheng Bixia

Abstract excerpt

Emerging research has demonstrated that genomic alterations disrupting topologically associated domains (TADs) and chromatin interactions underlie the pathogenic mechanisms of specific copy number variants (CNVs) in neurodevelopmental disorders. We report two patients with a de novo deletion and a duplication in chromosome 4q31, potentially causing FBX-related neurodevelopmental syndrome by affecting the...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to F-Box-WD Repeat-Containing Protein 7

Share to Infant

Share to Neurodevelopmental Disorders

Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 38780184
DOI: 10.1111/cge.14548

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay.PMID 38780184Read ↗

Non-coding structural variants identify a commonly affected regulatory region steering<i>FOXG1</i>transcription in early neurodevelopmentSemantic proximity Read ↗

Structural variants in the Epb41l4a locus may cause disruption of TADs, misregulation of the Nrep gene, and neurodevelopmental outcomesSemantic proximity Read ↗

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymomaSemantic proximity Read ↗

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.Semantic proximity Read ↗

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesSemantic proximity Read ↗

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersSemantic proximity Read ↗

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Semantic proximity Read ↗

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