Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
PI3K/mTOR/AKT Signaling Pathway01:22

PI3K/mTOR/AKT Signaling Pathway

The mammalian target of rapamycin  (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1  (mTORC1) and mTOR complex 2  (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast,  mTORC2 consists of a rapamycin-insensitive companion...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Pulmonary Tuberculosis III01:31

Pulmonary Tuberculosis III

Tuberculosis (TB) is a contagious infection primarily affecting the lung parenchyma but which can also affect other body parts. TB can be classified based on disease development, presentation, and the affected anatomical site.
The first classification is based on the development of the disease, and it includes the following categories:

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: Pathophysiological insights and treatment options.

Epilepsia·2026
Same author

Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex.

EBioMedicine·2025
Same author

The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options.

Epilepsia·2025
Same author

Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex.

Brain & development·2025
Same author

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Epilepsia·2024
Same author

The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.

The Lancet. Child & adolescent health·2024

関連する実験動画

Updated: Jul 2, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

結核性硬化症 結核性硬化症は結核性硬化症である.

Paolo Curatolo1, Roberta Bombardieri, Sergiusz Jozwiak

  • 1Department of Neurosciences, Paediatric Neurology Unit, Tor Vergata University, Rome, Italy.

Lancet (London, England)
|August 30, 2008
PubMed
まとめ
この要約は機械生成です。

結核性硬化症は,TSC1およびTSC2遺伝子の変異により複数の臓器の腫瘍を引き起こす遺伝疾患です. これらの分子変化を理解することは,重篤な症例を管理し,患者のアウトカムを改善するための鍵です.

さらに関連する動画

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

関連する実験動画

Last Updated: Jul 2, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

科学分野:

  • 遺伝学 遺伝学とは
  • 分子生物学は分子生物学である.
  • 医学科学 医学科学 医学科学 医学科学

背景:

  • 結核性硬化症は,脳,心臓,皮膚,腎臓などの臓器のハマルトーマによって特徴づけられる遺伝的多系統疾患です.
  • これは,ハマルチンとチューベリンをコードするTSC1およびTSC2遺伝子の変異によって引き起こされます.
  • ハマーチン-チューベリン複合体は通常,細胞成長に不可欠な哺乳類のラパミシン標的 (mTOR) 経路を阻害する.

研究 の 目的:

  • 結核性硬化症の遺伝的基礎と臨床的症状を要約する.
  • TSC1/TSC2-ハマーチン-チューベリン-mTOR経路の役割を強調する.
  • 重症疾患のリスクのある患者の早期発見の必要性を強調する.

主な方法:

  • 結核性硬化症の遺伝学と臨床プレゼンテーションに関する既存の文献のレビュー.
  • TSC1,TSC2およびmTOR経路を含む分子機構の分析.
  • 診断上の課題とリスクの階層化の重要性についての議論.

主要な成果:

  • 結核性硬化症は,細胞成長の調節に影響を与える遺伝子変異の結果である.
  • 病変の分布と遺伝的要因により,臨床的な表現は大きく異なります.
  • 現在の診断方法は,症状が3歳以降に現れるため,早期発見には限られています.

結論:

  • 結核性硬化症の分子基礎を理解することは,標的治療の開発に不可欠です.
  • リスクのある個人を早期に特定することは,重度の症状の管理に極めて重要です.
  • 分子異常に関するさらなる研究は,改善された疾患管理戦略につながる可能性があります.