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

Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.

Molecular biology reports - 1 Nov 2013

Wang Honglian, Xu Yiran, Chen Mingjie, Shang Qing, Sun Yanyan, Zhu Dengna, Wang Lei, Huang Zhiheng, Ma Caiyun, Li Tongchuan, He Lin, Xing Qinghe, Zhu Changlian

Abstract excerpt

Adaptor protein complex 4 (AP-4) plays a key role in vesicle formation, trafficking, and sorting processes that are critical for brain development and function. AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes. A number of studies have pointed to the involvement of AP-4-mediated vesicular trafficking pathways in the etiology of cerebral palsy (CP), the most notable of which are...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebral Palsy

Share to Child, Preschool

Share to Genetic Association Studies

Share to Odds Ratio

Share to Young Adult

Source

Identifiers

PMID: 24065543
DOI: 10.1007/s11033-013-2761-6

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

Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.PMID 24065543Read ↗

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilitySemantic proximity Read ↗

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delaySemantic proximity Read ↗

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.Semantic proximity Read ↗

Clinical and genetic characterization of AP4B1-associated SPG47.Semantic proximity Read ↗

Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Semantic proximity Read ↗

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.Semantic proximity Read ↗

Exome-wide association study identified genetic variants contributing to the risk of cerebral palsySemantic proximity Read ↗

Genetic variants in the HLA region contribute to the risk of cerebral palsy.Semantic proximity Read ↗

The association of apolipoprotein E gene polymorphisms with cerebral palsy in Chinese infants.Semantic proximity Read ↗

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.Semantic proximity Read ↗

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