| 项目编号 |
PRJCA009245 |
| 项目标题 |
Molecular mechanism of focal cortical dysplasia |
| 涉及领域 |
Medical |
| 数据类型 |
Epigenomics
Targeted Locus (Loci)
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Focal Cortical Dysplasia (FCD) is a frequent cause of drug-resistant focal epilepsy in children and young adults. The international FCD classification of 2011 has identified several clinico-pathological subtypes, either occurring isolated, i.e. FCD I or II, or in association with a principal cortical lesion, i.e. FCD III. FCD ILAE Type IIb is the most common FCD subtype and brain somatic mutations in mTOR pathway associated genes play a major pathogenic role. Herein, the aim of this study is (i) to comprehensively describe the genotype-phenotype association in twenty patients with histopathologically confirmed FCDIIb using Next Generation Sequencing (NGS) of paired blood-brain samples; (ii) we addressed for the first time the DNA methylation signature of a previously described new subtype of FCD IIId microscopically characterized by loss of cortical layer 4 in order to define their position in the molecular landscape of common FCD subtypes. These studies may also help to elucidate epileptogenic molecular mechanism of FCD. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2023-08-23 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
|
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Single-cell transcriptomics reveals early molecular and immune alterations underlying the serrated neoplasia pathway toward colorectal cancer
|
Cellular and Molecular Gastroenterology and Hepatology
|
10.1016/j.jcmgh.2022.10.001
|
2022
|
| 37559109
|
The specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D
|
Acta Neuropathologica Communications
|
10.1186/s40478-023-01618-6
|
2023
|
| 39456726
|
Single-Cell Transcriptomics Reveals Cellular Heterogeneity and Drivers in Serrated Pathway-Driven Colorectal Cancer Progression
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International Journal of Molecular Sciences
|
10.3390/ijms252010944
|
2024
|
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| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
|
|
|
|
|
|
| 提交者 |
Yueshan
Piao (yueshanpiao@126.com)
|
| 提交单位 |
Xuanwu Hospital, Capital Medical University, Beijing, China |
| 提交日期 |
2022-04-21 |
