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

Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

6.2K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.2K
Activation and Inactivation of G Proteins01:22

Activation and Inactivation of G Proteins

6.8K
Heterotrimeric G proteins are guanine nucleotide-binding proteins. As the name suggests, heterotrimeric G proteins are composed of three subunits: alpha, beta, and gamma. They remain GDP-bound or GTP-bound inside the cells and switch between inactive/active states. The Gα subunit possesses the nucleotide-binding pocket that binds guanine nucleotides and switches between GDP or GTP-bound states. In contrast, the Gꞵ and Gγ subunits are always bound together with high...
6.8K
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

7.3K
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
7.3K
Amplifying Signals via Enzymatic Cascade01:22

Amplifying Signals via Enzymatic Cascade

8.4K
When a ligand binds to a cell-surface receptor, the receptor's intracellular domain changes shape, which may either activate its enzyme function or allow its binding to other molecules. The initial signal is amplified by most signal transduction pathways. This means that a single ligand molecule can activate multiple molecules of a downstream target. Proteins that relay a signal are most commonly phosphorylated at one or more sites, activating or inactivating the protein. Kinases catalyze...
8.4K
Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

3.9K
Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
3.9K
GTPases and their Regulation02:14

GTPases and their Regulation

8.3K
Guanine nucleotide-binding proteins (G-proteins), also known as GTPases, are a superfamily of proteins that regulate many cellular processes, such as cell signaling, vesicular transport, and the regulation of cell shape and motility. Mutation or dysfunction of these proteins can lead to disease. There are around 40,000 known G-proteins that can broadly be classified into two groups ‒  small G-proteins consisting of a single domain and large multi-domain G-proteins.
Large G-proteins,...
8.3K

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

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

European journal of human genetics : EJHG·2026
Same author

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026
Same author

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

European journal of human genetics : EJHG·2026
Same author

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Clinical genetics·2026
Same author

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.

Journal of human immunity·2026
Same author

GPR15-guided CD8<sup>+</sup> T regulatory cells control intestinal inflammation.

Nature·2026

関連する実験動画

Updated: Jun 12, 2025

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

1.7K

G タンパク質の生殖系統変異は,T 細胞の交差信号を識別する

Hyoungjun Ham1,2,3, Huie Jing1,2, Ian T Lamborn1,2,4

  • 1Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.

Science (New York, N.Y.)
|September 19, 2024
PubMed
まとめ

Gαi2をコードするGNAI2の生殖系統変異は,免疫機能の低下と細胞移動を引き起こします. Gαi2変異の活性化により,T細胞受容体のシグナル伝達が妨げられ,免疫反応と細胞成長に影響されます.

さらに関連する動画

Detection of Small GTPase Prenylation and GTP Binding Using Membrane Fractionation and GTPase-linked Immunosorbent Assay
13:51

Detection of Small GTPase Prenylation and GTP Binding Using Membrane Fractionation and GTPase-linked Immunosorbent Assay

Published on: November 11, 2018

9.8K
Studying TGF-&#946; Signaling and TGF-&#946;-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells
06:54

Studying TGF-β Signaling and TGF-β-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells

Published on: October 27, 2020

12.8K

関連する実験動画

Last Updated: Jun 12, 2025

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

1.7K
Detection of Small GTPase Prenylation and GTP Binding Using Membrane Fractionation and GTPase-linked Immunosorbent Assay
13:51

Detection of Small GTPase Prenylation and GTP Binding Using Membrane Fractionation and GTPase-linked Immunosorbent Assay

Published on: November 11, 2018

9.8K
Studying TGF-&#946; Signaling and TGF-&#946;-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells
06:54

Studying TGF-β Signaling and TGF-β-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells

Published on: October 27, 2020

12.8K

科学分野:

  • 分子生物学
  • 免疫学
  • 遺伝学

背景:

  • 単一性先天性障害は 重要な生理学的経路を示しています
  • GNAI2はGαi2をコードし,Gタンパク質信号伝達における重要な構成要素である.
  • Gαi2は,典型的にはアデニルサイクラゼ媒介のサイクルアデノシンモノフォスファート (cAMP) 産生と関連している.

研究 の 目的:

  • GNAI2の遺伝子変異を調査する
  • 人間の生理学と病気における Gαi2 の役割を理解する.
  • GNAI2変異が免疫機能と細胞シグナル伝達に与える影響を明らかにする.

主な方法:

  • GNAI2における生殖系変異の分析
  • GNAI2変異を有する患者の臨床表現の評価
  • 細胞移動とT細胞受容体 (TCR) 信号伝達を含む細胞メカニズムの研究.

主要な成果:

  • GNAI2を活性化する変異は,免疫機能が低下した患者で確認された.
  • 変異したGαi2は細胞移動を阻害し,TCR刺激応答を増加させた.
  • 変異Gαi2はRASA2を隔離し,RASの活性化と下流信号伝達 (ERK/MAPK,PI3K-AKT S6) を促進した.

結論:

  • 活性化されたGNAI2変異は正常な免疫機能を破壊する.
  • Gαi2はTCRシグナル伝達と細胞プロセスの調節に重要な役割を果たします.
  • これらの発見は,GNAI2を免疫疾患の理解と治療の潜在的な標的として強調しています.