- 英
- PAH gene defect
- 関
- フェニルアラニン水酸化酵素 PAH
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- 1. 肺動脈性肺高血圧症(グループ1)の疫学と発症機序the epidemiology and pathogenesis of pulmonary arterial hypertension group 1 [show details]
… Several lines of evidence support a role for abnormal BMPR2 in PAH: Human – Up to 25 percent of patients with IPAH have abnormal BMPR2 structure or function ,… Mutations in the following genes have been variably associated with familial,… five groups based upon etiology : Group 1 – Pulmonary arterial hypertension (PAH) Group 2 – PH due to left heart disease;…
- 2. ヒト免疫不全ウイルス(HIV)関連肺動脈性高血圧症pulmonary arterial hypertension associated with human immunodeficiency virus [show details]
… supported by the observation that circulating monocytes from patients with HIV have increased endothelin-1 gene expression . Oxidative stress induced by gp120 (and tat) may lead to endothelial dysfunction and vascular … Human immunodeficiency virus-related pulmonary arterial hypertension (HIV-PAH) refers to pulmonary arterial hypertension (PAH) that develops in a patient who has HIV infection.…
- 3. 慢性血栓塞栓性肺高血圧症:外科的治療chronic thromboembolic pulmonary hypertension surgical treatment [show details]
… represents an absolute contraindication in that reperfusion of abnormal pulmonary parenchyma will result in minimal symptomatic improvement.… to the treatment of CTEPH is described separately. Surgery is a potentially curative therapy for chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary thromboendarterectomy…
- 4. 全身性硬化症(強皮症)に伴う肺動脈性高血圧症:定義、分類、危険因子、スクリーニングpulmonary arterial hypertension in systemic sclerosis scleroderma definition classification risk factors and screening [show details]
… In several studies the abnormal exercise response correlated with abnormal lung function,… classification, definition, risk factors, screening, and prognosis of SSc-associated pulmonary arterial hypertension (PAH), specifically group 1 PAH, are reviewed here. Group 2 PH and group 3 PH are discussed …
- 5. 成人に生じる原因不明の肺高血圧症の臨床的特徴と診断clinical features and diagnosis of pulmonary hypertension of unclear etiology in adults [show details]
… mutations occur in the gene encoding bone morphogenetic protein receptor 2 (BMPR2). Other mutations associated with PAH have been identified in genes encoding activin-like kinase… younger adults or 40 mmHg in older adults, and/or when RV size, wall thickness, and function are abnormal, understanding that PH may still be present even in the absence of these findings. Although estimation … and parasitic obstructions are rare The detection of CTEPH is an important step in the diagnostic evaluation of PH since CTEPH is potentially reversible with surgery.…
Related Links
- PAHはPAH遺伝子 によりコードされ、PAH遺伝子の異常により酵素活性の低下を引き起こす。さらに、PAHは補酵素としてテトラハイドロビオプテリン(BH 4 ...
- ※BH 4 補充療法はPAH遺伝子変異による疾患に罹患する患者の一部で、PAH活性を上昇させる可能性がある。 AR:常染色体劣性、BH 4 :テトラヒドロビオプテリン、DHPR:ジヒドロプテリジン還元酵素、 GTP-CH:グアノシントリホスフェート ...
- この酵素を産生するのに深く関わる遺伝子として「PAH遺伝子」がありますが、この遺伝子に異常が生じることでフェニルケトン尿症は発症します。 PAH遺伝子異常があると、フェニルアラニン水酸化酵素の働きが障害を受け、その結果 ...
Related Pictures
★リンクテーブル★
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- パラアミノ馬尿酸 para-aminohippuric acid
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- 微生物学:粒子凝集法(particle agglutination test)
- 薬理学:
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- 英
- heredity, inheritance
- 同
- 氏か育ちか
- 関
- 遺伝子、遺伝性疾患。遺伝形式
- 親のもつ遺伝情報が遺伝子によって子孫に伝達され、その作用によって形質が発現すること。
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- 英
- gene
- 同
- 遺伝因子 genetic factor
- 関
- ゲノム genome
- 生物の遺伝情報を担う主要因子
- 全ての生物の情報は、DNAからなる塩基配列にコードされている
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- aberrance, aberration, abnormity, anomalia, anomalo, anomaly, bad condition, defect, glitch, malfunction, trouble, uniqueness, vitium