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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.
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The Retinoblastoma Gene01:20

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Neurulation01:30

Neurulation

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Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

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Spinal Nerves: Plexus II

The plexuses of the lower body include the lumbar, sacral, and coccygeal plexuses, which innervate the abdomen, pelvis, legs, and coccygeal region. These plexuses control the transmission of sensory information and coordinate motor functions of the lower body.
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ニューロフィブロマトーシス2型

Ashok R Asthagiri1, Dilys M Parry, John A Butman

  • 1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. asthagiria@ninds.nih.gov

Lancet (London, England)
|May 30, 2009
PubMed
まとめ
この要約は機械生成です。

2型神経線維症 (NF2) は,腫瘍,神経病変,および病変を引き起こす遺伝疾患です. マネジメントは,複雑で進歩的な性質のため,多学科的なアプローチを必要とします.

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Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
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科学分野:

  • 遺伝学 遺伝学とは
  • 腫瘍学 腫瘍学
  • 神経学 神経学とは

背景:

  • ニューロフィブロマトーシス2型 (NF2) は,自己相性多発性疾患である.
  • 22q.染色体にあるNF2腫瘍抑制遺伝子の変異によって引き起こされる.
  • 浸透度が高い生児2万5千人に1人に発症する.

研究 の 目的:

  • NF2.2の分子病原性を検討する.
  • NF2.2の遺伝学と臨床的発見について議論する.
  • NFの管理戦略を概説する2.2.

主な方法:

  • 分子病原性に関する文献レビュー.
  • 遺伝的遺伝パターンの分析.
  • 臨床的症状と治療アプローチのまとめ.

主要な成果:

  • NF2は,神経系腫瘍 (シュワノーマ,髄膜腫),周辺神経病変,眼科/皮膚の病変を引き起こす.
  • 症例の半分は遺伝変異から,残りの半分は新しい変異から生じる.
  • 病変の進行と様々なタイプの病変は,複雑で多学科的なケアを必要とします.

結論:

  • NF2は,包括的な管理を必要とする複雑な遺伝的症候群です.
  • 分子病原体の理解は,標的治療の開発に役立ちます.
  • NF2.2における患者のアウトカムを最適化するために,学際的なケアが不可欠です.