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研究分野生物医学と臨床科学医学微生物学医療用感染剤 (プリオンを含む)
研究分野
生物医学と臨床科学
医学微生物学
医療用感染剤 (プリオンを含む)
CSF1R-ミクログリアル脳病変の希少な内経性c.2654+1G>A変異:症例報告

CSF1R-ミクログリアル脳病変の希少な内経性c.2654+1G>A変異:症例報告

HongYan Wu ¹, JingYu Shi ², XiaoShan Wang ¹, Mei Yang ¹, Jing Cai ²

HongYan Wu ¹, JingYu Shi ², XiaoShan Wang ¹

¹Department of Neurology, Guizhou University of Traditional Chinese Medicine, Guiyang, China.
²Department of Neurology, First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine, Guiyang, China.

⁰Department of Neurology, Guizhou University of Traditional Chinese Medicine, Guiyang, China.

Frontiers in Genetics +

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2025年9月2日

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2025年9月2日

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PubMedで要約を見る

まとめ

この要約は機械生成です。

この研究では,特殊な変異を伴う稀なCSF1R-マイクログリアル脳症の症例が詳細に示されています. ネガティブ・ディフュージョン・ウェイトド・イメージング (DWI) とアルツハイマー病のようなCSFバイオマーカーは,認知機能低下の症例における早期の遺伝子検査の必要性を強調しています.

科学分野

神経科学
遺伝学
神経学

背景

CSF1R- マイクログリアル脳症は稀な進行性神経変性疾患である.
早期の診断は,様々な臨床的表現と誤診の可能性のためにしばしば困難です.
コロニー刺激因子1受容体 (CSF1R) 遺伝子の変異が関与している.

キーワード:

CSF1R (コロニー刺激因子1受容体) 認知症遺伝子磁気共鳴画像検査マイクログリア

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: December 1, 2017

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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.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

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