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

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

9.1K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.1K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.1K
Pleiotropy01:33

Pleiotropy

41.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.1K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.2K
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,...
4.2K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.9K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.9K
Translation01:31

Translation

15.5K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
15.5K

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

Tumor-induced osteomalacia: a 2026 update.

Minerva medica·2026
Same author

Bone Mineral Density in Hemophilia and VWD.

Blood advances·2026
Same author

Exploring the dynamics of FGF23 in patients with Hereditary Hemochromatosis type I following iron depletive treatment: a pilot study.

Journal of endocrinological investigation·2026
Same author

Inhibition of endolysosomal two-pore channel 2 (TPC2) induces osteoblast differentiation and matrix mineralization while targeting autophagy.

Journal of endocrinological investigation·2026
Same author

Long-term treatment with denosumab in patients with celiac disease and osteoporosis at high risk of fracture: a retrospective study.

Internal and emergency medicine·2026
Same author

Burosumab treatment for children younger than 12 months with X-linked hypophosphataemia.

The lancet. Diabetes & endocrinology·2026

関連する実験動画

Updated: Sep 9, 2025

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

843

ゴラム・ストウト病の遺伝的変異を調べる

Olivia Pagliarosi1, Jessica Pepe1, Andrea Del Fattore2

  • 1Department of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University, Rome, Italy.

Frontiers in endocrinology
|September 4, 2025
PubMed
まとめ
この要約は機械生成です。

ゴラム・ストウト病 (Gorham-Stout disease,GSD) は 骨の喪失と血管の異常な成長を伴うものです このレビューは,GSDに関連した遺伝子変異を詳細に説明し,診断と治療に役立つ可能性があります.

キーワード:
ゴラム・ストウト病遺伝的特徴遺伝子変異分子経路珍しい病気

さらに関連する動画

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

1.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

関連する実験動画

Last Updated: Sep 9, 2025

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

843
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

1.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

科学分野:

  • * 遺伝学
  • * 珍しい病気
  • * オステオロジー

背景:

  • * ゴラム・ストウト病 (Gorham-Stout disease,GSD) は,消滅する骨の病として知られている希少な疾患です.
  • * 大幅なリンパ系および血管腫の増殖によって特徴付けられ,骨解け (骨の喪失) が進行する.
  • * エチオパトゲネシスと決定的な診断基準は,その希少性と複雑なプレゼンテーションのために困難です.

研究 の 目的:

  • * ゴラム・ストウト病患者の報告された遺伝的変異をレビューし,統合する.
  • * 特定された遺伝子変異とGSDの臨床的症状との関連を調べる.
  • GSDの診断と治療戦略の改善における遺伝学的発見の可能性を強調する.

主な方法:

  • * ゴラム・ストウト病の遺伝的発見を報告する研究に関する包括的な文献検索
  • * 特定された遺伝子変異の分析と臨床的現象型との相関.
  • GSDの遺伝的基礎に関する現在の知識の統合

主要な成果:

  • * ゴラム・ストウト病の患者で報告された様々な遺伝子変異のまとめ
  • * 特定の遺伝子変異と疾患の特徴の間の潜在的な関連を調べる.
  • * GSD に関する新興分子経路の特定

結論:

  • * ゴラム・ストウト病では遺伝的変異がますます認められています.
  • * これらの遺伝的要因を理解することは,GSDの診断を進めるために極めて重要です.
  • * GSD の 遺伝 的 基礎 に 関する 更に の 研究 は,標的 型 の 治療 方法 を 解き放つ こと が でき ます.