ArticleNature genetics2009
Increased LIS1 expression affects human and mouse brain development.
Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers.
What it found
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The trial behind it
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Who cites it
114 citing papers in PubMed, 220 citations in OpenAlex.
- PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2.Communications biology · 2026Article
- Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.BMC psychiatry · 2025Article
- Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.BMC medical genomics · 2025Review
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Article
- LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways.Nature communications · 2023Article
- Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.BMC medical genomics · 2022Article
- Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.Genes · 2022Article
- Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication.Frontiers in pediatrics · 2022Article
- Abnormalities in Cortical GABAergic Interneurons of the Primary Motor Cortex Caused byFrontiers in cell and developmental biology · 2022Article
- LIS1 and NDEL1 Regulate Axonal Trafficking of Mitochondria in Mature Neurons.Frontiers in molecular neuroscience · 2022Article
- Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.American journal of medical genetics. Part A · 2021Article
- Clan genomics: From OMIM phenotypic traits to genes and biology.American journal of medical genetics. Part A · 2021Article
- 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum.Journal of pediatric genetics · 2021Article
- A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.Molecular cytogenetics · 2021Article
- Lis1 co-localizes with actin in the phagocytic cup and regulates phagocytosis.Cytoskeleton (Hoboken, N.J.) · 2020Article
- A flexible network-based imputing-and-fusing approach towards the identification of cell types from single-cell RNA-seq data.BMC bioinformatics · 2020Article
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.BMC medical genetics · 2020Article
- Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.International journal of molecular and cellular medicine · 2020Article
- Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.BioMed research international · 2020Article
54 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
25 authors at 12 institutions in 5 countries.
Funding
Abstract
Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or YWHAE genes, and using a 'reverse genomics' approach, characterized the clinical consequences of these duplications. Increased PAFAH1B1 dosage causes mild brain structural abnormalities, moderate to severe developmental delay and failure to thrive. Duplication of YWHAE and surrounding genes increases the risk for macrosomia, mild developmental delay and pervasive developmental disorder, and results in shared facial dysmorphologies. Transgenic mice conditionally overexpressing LIS1 in the developing brain showed a decrease in brain size, an increase in apoptotic cells and a distorted cellular organization in the ventricular zone, including reduced cellular polarity but preserved cortical cell layer identity. Collectively, our results show that an increase in LIS1 expression in the developing brain results in brain abnormalities in mice and humans.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.