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Lysosomal Hydrolases01:22

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Liver Histology01:27

Liver Histology

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The microscopic anatomy of the liver is a complex and intricate system that comprises numerous structural units known as liver lobules, each of which is comparable in size to a sesame seed. These hexagonal structures consist of plates of liver cells or hepatocytes, which are characterized by their versatility and abundance of cellular apparatus like rough and smooth ER, Golgi apparatus, peroxisomes, and mitochondria.
Hepatocytes perform a variety of essential functions. They secrete...
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Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
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Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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ヒスティオシトーシス

Jean-François Emile1, Fleur Cohen-Aubart2, Matthew Collin3

  • 1EA4340 BECCOH, Université de Versailles SQY, Service de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.

Lancet (London, England)
|April 26, 2021
PubMed
まとめ
この要約は機械生成です。

ヒスティオシトーシスは,どの臓器にも影響する希少な骨髄細胞疾患で,成人ではしばしば遅れて診断される. MAPキナーゼ経路を活性化する 遺伝子変異が鍵となり 標的型療法が新たな希望をもたらします

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Isolation and Characterization of Tumor-initiating Cells from Sarcoma Patient-derived Xenografts
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科学分野:

  • 血液学
  • 腫瘍学
  • 希少 疾患

背景:

  • ヒスティオサイトーズは,様々な臓器の骨髄細胞の浸透を含む希少で異質な疾患です.
  • これらの症状はどの年齢層にも起こりうるが,成人の場合の診断は様々な症状のため遅れている.

研究 の 目的:

  • 診断上の課題,基礎となる分子機構,およびヒスティオサイトーズの治療上の進歩について見直す.
  • 診断と治療の選択における分子プロファイルの重要性を強調する.

主な方法:

  • ヒスティオサイトーシスの症例における臨床的,組織学的,および分子学的発見のレビュー.
  • 標的治療への反応を含む治療結果の分析

主要な成果:

  • MAPキナーゼ経路の遺伝子の体内の変異は,影響を受けた組織や時には血液で頻繁に特定されます.
  • 標的型BRAFまたはMEK阻害剤は,救済療法において有意な成功を示しています.

結論:

  • 正確な診断には,包括的な調査と,予後評価のための分子タイプ化が必要です.
  • 標的型療法は有効ですが 最適な治療戦略と神経学的合併症の予防にはさらなる研究が必要です