関連する実験動画
Updated: Jul 7, 2026

08:01
Stimulation of Notch Signaling in Mouse Osteoclast Precursors
Published on: February 28, 2017
人間のT細胞急性リンパ性白血病におけるNOTCH1の活性化変異
Andrew P Weng1, Adolfo A Ferrando, Woojoong Lee
1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
まとめ
NOTCH1遺伝子の活性化変異は,ヒトT細胞急性リンパ性白血病 (T-ALL) 症例の半数以上で発見されています. この発見はNOTCH1を強調しています.
科学分野:
- 分子生物学は分子生物学である.
- 腫瘍学 腫瘍学
- 遺伝学 遺伝学とは
背景:
- ヒトT細胞急性リンパ性白血病 (T-ALL) は,まれながんである.
- NOTCH1を含む染色体転位は,T-ALLのいくつかの症例で観察されています.
- NOTCH1は,正常なT細胞発達に不可欠な遺伝子です.
研究 の 目的:
- 人間のT-ALL.におけるNOTCH1変異の発生率と種類を調査する.
- T-ALL.の分子病原性におけるNOTCH1変異の役割を決定する.
- T-ALL.におけるNOTCHシグナリングを標的とした治療の可能性を探求する.
主な方法:
- 人間のT-ALLサンプルコホートにおけるNOTCH1遺伝子変異の分析.
- NOTCH1変異の状態と分子腫瘍原性亜型との相関.
- NOTCH1シグナル伝達に対する特定された変異の機能的影響の評価.
主要な成果:
- NOTCH1の活性化変異は,研究されたヒトT-ALL症例の50%以上で特定されました.
- 変異は,T-ALL.のすべての主要な分子腫瘍学的亜型で発見されました.
- 変異は,しばしばNOTCH1.1の細胞外異体化および/またはC端末PESTドメインを含む.
結論:
- 活性化されたNOTCH1シグナリングは,ヒトT-ALLsの大部分の分子病原性において重要な役割を果たしています.
- NOTCH1変異の高頻度は,標的治療の開発の強力な根拠となっています.
- NOTCHシグナル伝達への干渉は,T-ALLの有望な治療戦略です.
関連する概念動画
Notch Signaling Pathway
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Notch Signaling Pathway
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Role Of Notch Signalling In Intestinal Stem Cell Renewal
Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...

