研究 ID
hum0018-v2リリース情報
最新
研究題目
神経筋変性疾患の遺伝子解析研究
研究概要
- 目的
- 神経筋変性疾患の原因遺伝子または疾患感受性遺伝子および病態の解明
- 研究方法
- Illumina HiSeq 2000/2500を使用したWhole exome sequencing、Whole genome sequencing、RNA sequencing
- 対象
- 神経筋変性疾患14症例、および対照健常者7例
シャルコー・マリー・トゥース病（Charcot-Marie-Tooth disease：CMT）69症例
前頭側頭型認知症（Frontotemporal dementia：FTD）21症例
家族性筋萎縮性側索硬化症（Familial amyotrophic lateral sclerosis：Familial ALS）119症例
ミオパチー（Myopathy）85症例
孤発性筋萎縮性側索硬化症（Sporadic amyotrophic lateral sclerosis：Sporadic ALS）489症例
運動ニューロン病（Motor neuron disease：MND）9症例
痙性対麻痺（Spastic paraplegia）465症例 - URL
- N/A
データセット
| カート | データセット ID | データの種類 | 解析手法 | アクセス制限 | 公開日 |
|---|---|---|---|---|---|
| JGAD000009 | NGS（Exome） |
| 制限公開（Type I） | 2020-09-28 | |
| JGAD000448 | NGS（Exome） |
| 制限公開（Type I） | 2025-07-18 | |
| JGAD000488 | NGS（Exome） |
| 制限公開（Type I） | 2025-07-22 | |
| JGAD000472 | NGS（WGS、Exome、RNA-seq） |
| 制限公開（Type I） | 2025-07-18 | |
| JGAD000479 | NGS（WGS、Exome） |
| 制限公開（Type I） | 2025-07-18 | |
| JGAD000510 | NGS（WGS、Exome、RNA-seq） |
| 制限公開（Type I） | 2025-07-22 | |
| JGAD000539 | NGS（Exome） |
| 制限公開（Type I） | 2025-07-22 | |
| JGAD000611 | NGS（WGS、Exome） |
| 制限公開（Type I） | 2025-07-22 |
提供者
- 研究代表者
- 辻 省次
- 所属機関
- 東京大学大学院 医学系研究科 神経内科学
研究プロジェクト情報
研究プロジェクト情報はありません。
助成金情報
| 科研費・助成金名 | 研究課題名 | 研究課題番号 |
|---|---|---|
日本医療研究開発機構（AMED） 難治性疾患実用化研究事業 | 全ゲノム解析に基づく成人発症型神経難病の病因・病態機序の解明 |
|
日本医療研究開発機構（AMED） 難治性疾患実用化研究事業 | オミックス解析に基づく希少難治性神経疾患の病態解明 |
|
日本医療研究開発機構（AMED） 臨床ゲノム情報統合データベース整備事業 | 希少・難病分野の臨床ゲノム情報統合データベース整備 |
|
日本医療研究開発機構（AMED） 難治性疾患実用化研究事業 | 神経疾患の集中的な遺伝子解析及び原因究明に関する研究 |
|
文部科学省科学研究費新学術領域研究（研究領域提案型） | ゲノム科学の総合的推進に向けた大規模ゲノム情報生産・高度情報解析支援 | N/A |
関連論文
| タイトル | DOI | データセット ID |
|---|---|---|
Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. | ||
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population | ||
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations | ||
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis | ||
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy | ||
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations | ||
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS | ||
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis | ||
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation | ||
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 | ||
Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population | ||
C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan | ||
A mutation database for amyotrophic lateral sclerosis | ||
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease | ||
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1 | ||
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation | ||
Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia | ||
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia | ||
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report | ||
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia | ||
A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report | ||
Clinical features of inherited neuropathy with BSCL2 mutations in Japan | ||
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia | ||
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia | ||
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes | ||
Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction | ||
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case | ||
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy | ||
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia | ||
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment | ||
Erratum: Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses | ||
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8 | ||
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome | ||
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation | ||
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation | ||
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses | ||
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 | ||
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) |
制限公開データの利用者一覧
| 研究代表者 | 所属機関 | 国・州名 | 研究題目 | データ利用期間 | データセット ID |
|---|---|---|---|---|---|
| 湯原 悟志 | 研究開発本部 試験開発部 バイオインフォマティクス課, 株式会社エスアールエル | 日本 | 希少疾患クリニカルレポーティングシステムの検証 | 2024-07-01 – 2026-07-01 | |
| 大久保 颯 | 神経内科学, 東京大学大学院医学系研究科 | 日本 | 神経筋変性疾患の遺伝子解析研究 | 2025-09-02 – 2028-05-21 |