| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2024-04-26 |
| タイトル |
|
|
タイトル |
Mutational analysis by targeted sequencing in 11 cases of tuberous sclerosis |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
TSC1 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
TSC2 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
tuberous sclerosis complex |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
genotype-phenotype correlations |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
splice-acceptor site |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Yohei, Yamamoto
Tatsuya, Yamamoto
Ko, Kudo
Tsutomu, Toki
Rika, Kanezaki
Tatsuya, Ito
Tomoe, Shinagawa
Arisa, Asari
Hidenori, Umetsu
Hiroshi, Fujita
Etsuro, Ito
Kiminori, Terui
|
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 著者所属 |
|
|
言語 |
en |
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Tuberous sclerosis （TSC） is an autosomal dominant genetic disorder mainly caused by mutations in the TSC1 and TSC2 genes. In this study, we performed sequencing analysis of target genes in 11 clinically diagnosed cases, including 10 definite cases and one possible case. Genetic mutations were detected in 7 of 11 patients（ 64%）（ TSC1 in one case and TSC2 in six cases）, of whom two patients had novel TSC2 mutations. One case had a three-nucleotide insertion mutation in the GTPase-activating protein domain and the other had a mutation causing a 56-nucleotide deletion in the 19th exon transcript, which were considered “likely pathogenic” and “pathogenic”, respectively. No mutations were found in genes related to the mTOR pathway, including AKT1, AKT2, AKT3, and PTEN. Genetic analysis is a useful adjunct diagnostic tool for TSC. |
|
言語 |
en |
| 書誌情報 |
ja : 弘前医学
en : Hirosaki Medical Journal
巻 74,
号 1-4,
p. 17-27,
発行日 2024-03-28
|
| ISSN |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2434-4656 |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AN00211444 |
| 著者版フラグ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 出版者 |
|
|
出版者 |
弘前大学大学院医学研究科 |
|
言語 |
ja |
| 資源タイプ |
|
|
言語 |
en |
|
値 |
Article |
Hirosaki Med J 74-1-4_17.pdf (689 KB)
