adenylate deaminase deficiency

アデニル酸デアミナーゼ欠損症

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 2. 重度複合型免疫不全（SCID）：特定の欠損 severe combined immunodeficiency scid specific defects
• 3. アデノシンデアミナーゼ欠損症：病因、臨床症状、および診断 adenosine deaminase deficiency pathogenesis clinical manifestations and diagnosis
• 4. 高IgM症候群 hyperimmunoglobulin m syndromes
• 5. JAK3欠損を伴う重度複合型免疫不全（SCID） severe combined immunodeficiency scid with jak3 deficiency

English Journal

• A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.

• Chan EK1, Kornberg AJ2, Ryan MM3.
• Archives of disease in childhood.Arch Dis Child.2015 Aug;100(8):793-7. doi: 10.1136/archdischild-2014-307663. Epub 2015 Jan 29.
• Episodic myalgia is a common complaint in children and young adults. While many cases remain idiopathic even after extensive investigation, myalgia can be the first symptom of an underlying serious neuromuscular condition, and can be associated with an increased risk of such serious complications as
• PMID 25633066

• AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.

• Tandelilin AA1,2, Hirase T3, Hudoyo AW4,5, Cheng J6,7, Toyama K8,9, Morisaki H10,11, Morisaki T12,13.
• BMC endocrine disorders.BMC Endocr Disord.2015 Mar 27;15:11. doi: 10.1186/s12902-015-0010-9.
• BACKGROUND: Insulin resistance triggered by excess fat is a key pathogenic factor that promotes type 2 diabetes. Understanding molecular mechanisms of insulin resistance may lead to the identification of a novel therapeutic target for type 2 diabetes. AMPD1, an isoform of AMP deaminase (AMPD), is su
• PMID 25887856

• Elevated adenosine signaling via adenosine A2B receptor induces normal and sickle erythrocyte sphingosine kinase 1 activity.

• Sun K1, Zhang Y2, Bogdanov MV2, Wu H2, Song A2, Li J2, Dowhan W2, Idowu M3, Juneja HS3, Molina JG2, Blackburn MR1, Kellems RE1, Xia Y1.
• Blood.Blood.2015 Mar 5;125(10):1643-52. doi: 10.1182/blood-2014-08-595751. Epub 2015 Jan 13.
• Erythrocyte possesses high sphingosine kinase 1 (SphK1) activity and is the major cell type supplying plasma sphingosine-1-phosphate, a signaling lipid regulating multiple physiological and pathological functions. Recent studies revealed that erythrocyte SphK1 activity is upregulated in sickle cell
• PMID 25587035

Related Links

• Muscle adenylate deaminase deficiency. Report of six new ...

1. Arch Neurol. 1981 May;38(5):279-81. Muscle adenylate deaminase deficiency. Report of six new cases. Kar NC, Pearson CM. We describe six adult patients (five men and one woman) out of 364 whose muscle biopsy specimens ...

• Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency Author: Doctor Manfred GROSS1 Creation Date: September 2001 Scientific Editor: Professor Georges VAN DEN BERGHE 1University of Munich, internistische Klinik Dr. Müller, Am ...

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★リンクテーブル★

リンク元	「アデニル酸デアミナーゼ欠損症」
関連記事	「deficiency」「adenylate」「deaminase」

「アデニル酸デアミナーゼ欠損症」

　　[★]

英

adenylate deaminase deficiency

同

AMPデアミナーゼ欠損症 AMP deaminase deficiency

関

AMP、IMP

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「adenylate」

　　[★]

• n.

• アデニル酸

• v.

• アデニル化する

関

adenosine monophosphate、adenylation、adenylic acid

「deaminase」

　　[★]

デアミナーゼ、脱アミノ酵素