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

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families.

Journal of human genetics - 1 Nov 2023

Zhang Xin, Guo Yanzhao, Xu Lu, Wang Yilong, Sheng Guoxia, Gao Feng, Yuan Zhefeng

Abstract excerpt

BACKGROUND: GEMIN5 is an RNA-binding protein that regulates multiple molecular functions, including splicing, localisation, translation, and mRNA stability. GEMIN5 mutations present a syndrome centred on cerebellar dysplasia, including motor dysfunction, developmental delay, cerebellar atrophy, and hypotonia. CASES: We report three patients from two families with novel compound heterozygous mutations in the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Heterozygote

Share to Infant

Share to Pedigree

Share to Phenotype

Share to SMN Complex Proteins

Source

Identifiers

PMID: 37479787
DOI: 10.1038/s10038-023-01184-8

Genes

GEMIN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families.PMID 37479787Read ↗

Functional and structural deficiencies of Gemin5 variants associated with neurological diseaseSemantic proximity Read ↗

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.Semantic proximity Read ↗

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.Semantic proximity Read ↗

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Semantic proximity Read ↗

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.Semantic proximity Read ↗

Emerging Roles of Gemin5: From snRNPs Assembly to Translation ControlSemantic proximity Read ↗

Gemin5, a Novel WD Repeat Protein Component of the SMN Complex That Binds Sm ProteinsSemantic proximity Read ↗

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Semantic proximity Read ↗

A novel dimerization module in Gemin5 is critical for protein recruitment and translation controlSemantic proximity Read ↗

Gemin4Semantic proximity Read ↗

Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4.Semantic proximity Read ↗

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.Semantic proximity Read ↗

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