PAH gene defect

PAH遺伝子異常

WordNet

1. desert (a cause, a country or an army), often in order to join the opposing cause, country, or army; "If soldiers deserted Hitlers army, they were shot" (同)desert
2. an imperfection in an object or machine; "a flaw caused the crystal to shatter"; "if there are any defects you should send it back to the manufacturer" (同)fault, flaw
3. an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"
4. a failing or deficiency; "that interpretation is an unfortunate defect of our lack of information" (同)shortcoming
5. (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
6. the 16th letter of the Roman alphabet (同)p

PrepTutorEJDIC

1. 〈C〉『欠点』,弱点,欠陥 / 〈U〉〈C〉《古》不足,欠乏 / (国・党・主義などから)離脱する,裏切って出る《+『from』+『名』》;離反して(…に)転向する《+『to』+『名』》
2. 遺伝子
3. personal assistant個人秘書 / public address [system]
4. parking
5. phosphorusの化学記号

UpToDate Contents

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• 1. 小児における、心房中隔欠損（ASD）の分類および孤立性ASDの臨床的特徴および診断 classification of atrial septal defects asds and clinical features and diagnosis of isolated asds in children
• 2. 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
• 3. 慢性血栓塞栓性肺高血圧症：外科的治療 chronic thromboembolic pulmonary hypertension surgical treatment
• 4. Classification and prognosis of pulmonary hypertension in adults
• 5. 成人における心房中隔欠損症の閉鎖適応および医療マネージメント indications for closure and medical management of atrial septal defects in adults

English Journal

• Delayed Microvascular Shear-adaptation in Pulmonary Arterial Hypertension: Role of PECAM-1 Cleavage.

• Szulcek R1, Happé CM2, Rol N3, Fontijn RD4, Dickhoff C5, Hartemink KJ6, Grünberg K7, Tu L8, Timens W9, Nossent GD10, Paul MA11, Leyen TA12, Horrevoets AJ13, de Man FS14, Guignabert C15, Yu PB16, Vonk-Noordegraaf A17, van Nieuw Amerongen GP18, Bogaard HJ19.
• American journal of respiratory and critical care medicine.Am J Respir Crit Care Med.2016 Jan 13. [Epub ahead of print]
• RATIONAL: Altered pulmonary hemodynamics and high fluid shear stress (HSS) are characteristic hallmarks in the pathogenesis of Pulmonary Arterial Hypertension (PAH). However, the contribution of HSS to cellular and vascular alterations in PAH is unclear.OBJECTIVE: We hypothesize that failing shear-a
• PMID 26760925

• A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

• Tenorio J1,2, Navas P3,4, Barrios E5, Fernández L1,2, Nevado J1,2, Quezada CA4, López-Meseguer M6,7,8, Arias P1,2, Mena R2, Lobo JL9, Alvarez C10, Heath K1,2, Escribano-Subías P3,4, Lapunzina P1,2.
• Clinical genetics.Clin Genet.2015 Dec;88(6):579-83. doi: 10.1111/cge.12549. Epub 2015 Jan 7.
• Pulmonary arterial hypertension (PAH) is a pathological condition characterized by a persistent and progressive elevation of pulmonary vascular resistance with devastating consequences if untreated. In the past recent years, several genes have been related to PAH, however, the molecular defect remai
• PMID 25512148

• Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

• Li N1,2, Jia H3, Liu Z1,2, Tao J1,2, Chen S3, Li X1,4, Deng Y1,2, Jin X1,2, Song J3, Zhang L3, Liang Y3, Wang W3, Zhu J1,2,4.
• Scientific reports.Sci Rep.2015 Oct 27;5:15769. doi: 10.1038/srep15769.
• Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU
• PMID 26503515

Japanese Journal

• テトラヒドロビオプテリンの研究に関する最近の進歩(ビタミン類縁化合物に関する最近の研究)

• 鈴木 崇弘,一瀬 宏
• ビタミン 79(2), 87-95, 2005-02-25
• … BH4を必須の補酵素とする酵素としては, phenylalanine hydroxylase(PAH), tyrosine hydroxylase(TH)および tryptophan hydroxylase(TPH)という3種の芳香族アミノ酸水酸化酵素と, nitric oxide synthase(NOS)が知られている. … PAHは肝臓においてフェニルアラニンをチロシンに代謝する酵素であり, PAHまたはBH4合成酵素の遺伝子変異は高フェニルアラニン血症の原因となる. …
• NAID 110002880417

Related Links

• Phenylketonuria in Children and Mothers: Genes ...

Genetic Defect and Mutation Severity PKU is one of the most common inborn errors of metabolism, occurring in 1 in 10,000 to 15,000 live births, and is caused by mutations on the gene coding for the enzyme phenylalanine ...

• FAQ - Frequently Asked Questions - University of Illinois at ...

Genetics Is PKU recessive or dominant? => It is recessive. In order for a child to have PKU, must both parents have a defective PAH gene? => In the "classical" form of the disease involving a defective PAH gene (not ...

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★リンクテーブル★

リンク元	「PAH遺伝子異常」
関連記事	「defect」「PAH」「PA」「P」

「PAH遺伝子異常」

　　[★]

英

PAH gene defect

関

フェニルアラニン水酸化酵素 PAH

「defect」

　　[★]

• n.

• 欠損、欠損症、異常、欠陥、欠点

関

aberrant、aberrantly、aberration、abnormal、abnormality、abnormally、absence、agenesis、anomalous、anomalously、anomaly、defective、deficiency、deficient、deficit、deletion、deletional、deviant、drawback、extraordinarily、extraordinary、fault、flaw、inadequacy、miss、missing、morphological defect、shortcoming、unusual、unusually、weakness

　 　 　 　 　

「PAH」

　　[★]

• p-aminohippurate sodium パラアミノ馬尿酸ナトリウム

パラアミノ馬尿酸 para-aminohippuric acid

• 多環芳香族炭化水素 polycyclic aromatic hydrocarbon
• 肺動脈高血圧症 pulmonary arterial hypertension
• フェニルアラニン水酸化酵素 phenylalanine hydroxylase

「PA」

　　[★]

• 肺動脈弁閉鎖症 pulmonary atresia
• 肺動脈 pulmonary artery、肺動脈幹
• 原発性アルドステロン症 primary aldosteronism

• 微生物学：粒子凝集法(particle agglutination test)
• 薬理学：

　

「P」

　　[★]

• プロリン proline
• P波 P wave
• リン phosphorus