ArticleJournal of molecular neuroscience : MN2019
ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.
Article in Journal of molecular neuroscience : MN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.Alcohol, clinical & experimental research · 2026Article
- A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder.Molecular neurobiology · 2023Review
- WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium.Life science alliance · 2023Article
- The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic.Molecular biology of the cell · 2022Article
- The glycoprotein GP130 governs the surface presentation of the G protein-coupled receptor APLNR.The Journal of cell biology · 2021Article
- Roles for ELMOD2 and Rootletin in ciliogenesis.Molecular biology of the cell · 2021Article
- The ARF GAP ELMOD2 acts with different GTPases to regulate centrosomal microtubule nucleation and cytokinesis.Molecular biology of the cell · 2020Article
- Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.Journal of molecular neuroscience : MN · 2020Article
- Comprehensive circRNA Expression Profile and Construction of circRNAs-Related ceRNA Network in a Mouse Model of Autism.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ELMO domain containing 1 (ELMOD1) encodes a protein with GTPase-activating functions. Previous studies have confirmed its overexpression in brain tissues. Although no previous study has reported mutations in this gene in human subjects, spontaneous inactivating mutations in the mouse homolog of this gene have been associated with deafness and balance problems. In the current study, we have performed whole exome sequencing (WES) in a patient with intellectual disability. We found a novel mutation in ELMOD1 gene (c.571delG, p.D191MfsTer25) in the proband and two other affected cases in the family. Segregation analysis showed that parents carried the mutation in the heterozygote state. Consequently, the current study reports the first case of mutation in ELMOD1 in human subjects and demonstrates the significant difference in the phenotypes associated with ELMOD1 mutations in humans and mice.
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Registered trials
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