Found: 11
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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-108
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- Publication type:
- Article
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
- Published in:
- 2013
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- Publication type:
- journal article
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01158-w
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- Publication type:
- Article
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
- Published in:
- Scientific Reports, 2016, p. 38590, doi. 10.1038/srep38590
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- Publication type:
- Article
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02216-1
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- Publication type:
- Article
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3177, doi. 10.1093/hmg/ddy220
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- Publication type:
- Article
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4132, doi. 10.1093/hmg/ddx300
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- Publication type:
- Article
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069
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- Publication type:
- Article
MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 717, doi. 10.1002/humu.23409
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- Publication type:
- Article
Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 51, doi. 10.3390/genes13010051
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- Publication type:
- Article
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.
- Published in:
- Epigenetics & Chromatin, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13072-019-0298-1
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- Publication type:
- Article