dGK deficiency

同

deoxyguanosine kinase

PrepTutorEJDIC

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
2. (おもに人称代名詞・固有名詞(人名),thereの後で)had, wouldの短縮形 / (疑問文でwhere,what,whenの後で)didの短縮形;Where'd he go?=Where did he go?

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• 1. IgG サブクラス欠乏症 igg subclass deficiency
• 2. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 5. 補体系の遺伝性疾患 inherited disorders of the complement system

English Journal

• Diacylglycerol Kinase ζ (DGKζ) is a Critical Regulator of Bone Homeostasis via Modulation of c-Fos Levels in Osteoclasts.

• Zamani A1, Decker C, Cremasco V, Hughes L, Novack DV, Faccio R.
• Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2015 Apr 18. doi: 10.1002/jbmr.2533. [Epub ahead of print]
• Increased diacylglycerol (DAG) levels are observed in numerous pathologies, including conditions associated with bone loss. However, the effects of DAG accumulation on the skeleton have never been directly examined. Because DAG is strictly controlled by tissue specific diacylglycerol kinases (DGKs),
• PMID 25891971

• mRNA expression of diacylglycerol kinase isoforms in insulin-sensitive tissues: effects of obesity and insulin resistance.

• Mannerås-Holm L1, Kirchner H1, Björnholm M1, Chibalin AV1, Zierath JR2.
• Physiological reports.Physiol Rep.2015 Apr;3(4). pii: e12372. doi: 10.14814/phy2.12372.
• Diacylglycerol kinase (DGK) isoforms regulate signal transduction and lipid metabolism. DGKδ deficiency leads to hyperglycemia, peripheral insulin resistance, and metabolic inflexibility. Thus, dysregulation of other DGK isoforms may play a role in metabolic dysfunction. We investigated DGK isoform
• PMID 25847921

• Egr2-dependent gene expression profiling and ChIP-Seq reveal novel biologic targets in T cell anergy.

• Zheng Y1, Zha Y, Spaapen RM, Mathew R, Barr K, Bendelac A, Gajewski TF.
• Molecular immunology.Mol Immunol.2013 Oct;55(3-4):283-91. doi: 10.1016/j.molimm.2013.03.006. Epub 2013 Mar 30.
• T cell anergy is one of the mechanisms contributing to peripheral tolerance, particularly in the context of progressively growing tumors and in tolerogenic treatments promoting allograft acceptance. We recently reported that early growth response gene 2 (Egr2) is a critical transcription factor for
• PMID 23548837

Related Links

• Neonatal liver failure due to deoxyguanosine kinase deficiency ...

BMJ Case Reports: publishing, sharing and learning through experience

• Mitochondrial deoxyguanosine kinase mutations and ...

Mitochondrial deoxyguanosine kinase (dGK) catalyzes the initial phosphorylation of purine deoxynucleosides. Mutations in the dGK gene leading to deficiency in d ... Mutations Outcome (dGK enzyme alteration) Disease onset and ...

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★リンクテーブル★

関連記事	「deficiency」「dG」

「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

　

「dG」

　　[★]

• デオキシグアノシン

関

deoxyguanosine