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Article

Emerging roles of TRIO and F-actin-binding protein in human diseases.

Cell communication and signaling : CCS - 11 Jun 2018

Park Sungjin, Lee Hyunji, Kim Minhee, Park Jisoo, Kim Seon-Hwan, Park Jongsun

Abstract excerpt

TRIO and F-actin-binding protein (TRIOBP) also referred to as Tara, was originally isolated as a cytoskeleton remodeling protein. TRIOBP-1 is important for regulating F-actin filament reorganization. TRIOBP variants are broadly classified as variant-1 or - 4 and do not share exons. TRIOBP variant-5 contains all exons. Earlier studies indicated that TRIOBP-4/5 mutation is a pivotal element of autosomal recessive...

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Source

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Identifiers

PMID: 29890989
DOI: 10.1186/s12964-018-0237-y
PMCID: PMC5996455

Genes

TRIOBP
TRIO

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Emerging roles of TRIO and F-actin-binding protein in human diseases.PMID 29890989Read ↗

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.Semantic proximity Read ↗

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.Semantic proximity Read ↗

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.Semantic proximity Read ↗

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.Semantic proximity Read ↗

A Rare Variant in <i>TRIOBP</i> Linked to Occupational Noise Exposure in Meniere DiseaseSemantic proximity Read ↗

Analysis of TRIOBP gene in non-syndromic deafness: A case report.Semantic proximity Read ↗

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.Semantic proximity Read ↗

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephalySemantic proximity Read ↗

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.Semantic proximity Read ↗

Modeling human mutations to understand TRIO GEF function during development.Semantic proximity Read ↗

[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].Semantic proximity Read ↗

Skeletal muscle deformity and neuronal disorder in Trio exchange factor-deficient mouse embryos.Semantic proximity Read ↗

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