ArticleHuman mutation2015
Variants in CUL4B are associated with cerebral malformations.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 45 citations in OpenAlex.
- Review
- Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Review
- Case Report: Cabezas syndrome caused byFrontiers in neuroscience · 2025Article
- SUMOylation of Warts kinase promotes neural stem cell reactivation.Nature communications · 2024Article
- Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.Orphanet journal of rare diseases · 2024Article
- CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK.Cell death & disease · 2024Article
- The CUL4B-based E3 ubiquitin ligase regulates mitosis and brain development by recruiting phospho-specific DCAFs.The EMBO journal · 2023Article
- Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.Journal of personalized medicine · 2022Article
- Article
- Inhibition of MicroRNA miR-101-3p on prostate cancer progression by regulating Cullin 4B (CUL4B) and PI3K/AKT/mTOR signaling pathways.Bioengineered · 2021Article
- A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.American journal of human genetics · 2021Article
- A 22.5 kb deletion inClinical case reports · 2020Article
- Waking up quiescent neural stem cells: Molecular mechanisms and implications in neurodevelopmental disorders.PLoS genetics · 2020Review
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.Molecular psychiatry · 2019Article
- Genomic imbalances defining novel intellectual disability associated loci.Orphanet journal of rare diseases · 2019Article
- CRL4Mahj E3 ubiquitin ligase promotes neural stem cell reactivation.PLoS biology · 2019Article
- Cul4a promotes zebrafish primitive erythropoiesis via upregulating scl and gata1 expression.Cell death & disease · 2019Article
- The emerging role for Cullin 4 family of E3 ligases in tumorigenesis.Biochimica et biophysica acta. Reviews on cancer · 2019Review
- A novelHuman genome variation · 2019Article
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Authors and funding
45 authors at 17 institutions in 9 countries.
Funding
Abstract
Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.
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