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Expanding the Genotype and Phenotype of SETD5-Related Neurodevelopmental Syndrome
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“Genes such as SETD5, KMT2A, CREBBP, EP300, CHD7, SIN3A, and ZMYND8 significantly influence the spatiotemporal expression of neurodevelopmental and synapse-related genes (Dias et al., 2022; Ahsan et al., 2023).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Ahsan et al., 2023
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No references could be resolved yet.
Research works printed but not linked: 6
- Fang, 2019, A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: a case report, Exp Ther Med, 18, 3737
- Martin, 2005, The diverse functions of histone lysine methylation, Nat Rev Mol Cell Biol, 6, 838, 10.1038/nrm1761 · DOI
- Grozeva, 2014, De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability, Am J Hum Genet, 94, 618, 10.1016/j.ajhg.2014.03.006 · DOI
- Kuechler, 2015, Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome, Eur J Hum Genet, 23, 753, 10.1038/ejhg.2014.165 · DOI
- Villain, 2018, miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons, Development, 145, 10.1242/dev.156232 · DOI
- Pinard, 2020, The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy, Genet Med, 22, 427, 10.1038/s41436-019-0639-2 · DOI
Cited by
Sorted by citations
Qing, Z., Yin, Z., Chen, B., Rao, Z., Yin, D., Li, D., Lu, Y., Shi, M., Li, S., Xu, Y., et al. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1964684
“Genes such as SETD5 , KMT2A , CREBBP , EP300 , CHD7 , SIN3A , and ZMYND8 significantly influence the spatiotemporal expression of neurodevelopmental and synapse-related genes (Dias et al., 2022; Ahsan et al., 2023).”
Metadata
- Authors
- Ahsan, N., Desai, A., Siddiqui, O., & Powers, K.
- Affiliations
- University of Southern California (US)
- Children's Hospital Los Angeles (US)
- Corresponding author
- Ahsan, Nusrat
- ORCID
- Ahsan, Nusrat
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2023-01
- Volume
- 138
- Pages
- 25-26
- ISSN
- 0887-8994 (ISSN-L)
- OpenAlex
- W4302362427
- Cited by
- 5
- References
- 0
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 1
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- SETD5, histone H3 lysine methylation, intellectual disability, genotype-phenotype correlation, autism spectrum disorder, brachycephaly, micrognathia, postaxial polydactyly, congenital heart disease, feeding difficulties, behavioral problems
- MeSH terms
- Genotype, Humans, Intellectual Disability, Methyltransferases, Phenotype, Neurodevelopmental Disorders
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