WordNet
- the 3rd letter of the Roman alphabet (同)c
- (music) the keynote of the scale of C major
- a general-purpose programing language closely associated with the UNIX operating system
- (biochemistry) a class of hemoprotein whose principal biological function is electron transfer (especially in cellular respiration)
- any of the enzymes that catalyze biological oxidation
PrepTutorEJDIC
- 〈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
- carbonの化学記号
- case[s]
UpToDate Contents
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- 1. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
- 2. 代謝性ミオパチーの原因 causes of metabolic myopathies
- 3. 先天性代謝異常症の分類の概要 overview of the classification of inborn errors of metabolism
- 4. ミトコンドリア細胞症における腎病変 renal involvement in the mitochondrial cytopathies
- 5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
English Journal
- LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
- Oláhová M1, Hardy SA1, Hall J2, Yarham JW1, Haack TB3, Wilson WC1, Alston CL1, He L1, Aznauryan E1, Brown RM4, Brown GK4, Morris AA5, Mundy H6, Broomfield A5, Barbosa IA7, Simpson MA7, Deshpande C8, Moeslinger D9, Koch J10, Stettner GM11, Bonnen PE12, Prokisch H3, Lightowlers RN1, McFarland R1, Chrzanowska-Lightowlers ZM1, Taylor RW13.
- Brain : a journal of neurology.Brain.2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27.
- Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral hig
- PMID 26510951
- Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
- Lehmann D1, Schubert K1, Joshi PR1, Hardy SA2, Tuppen HA2, Baty K2, Blakely EL2, Bamberg C3, Zierz S1, Deschauer M1, Taylor RW2.
- European journal of human genetics : EJHG.Eur J Hum Genet.2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15.
- Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings includ
- PMID 25873012
- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.
- Piekutowska-Abramczuk D1, Kocyła-Karczmarewicz B2, Małkowska M1, Łuczak S1, Iwanicka-Pronicka K1, Siegmund S3, Yang H3, Wen Q4, Hoang QV4, Silverman RH4, Kowalski P1, Szczypińska O1, Czornak K1, Zimowski J5, Płoski R6, Pilch J7, Ciara E1, Zaremba J5, Krajewska-Walasek M1, Schon EA3,8, Pronicka E9,10.
- JIMD reports.JIMD Rep.2015 Oct 2. [Epub ahead of print]
- SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic exam
- PMID 26427993
Japanese Journal
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
- Vondrackova Alzbeta,Vesela Katerina,Hansikova Hana [他],DOCEKALOVA Dagmar Zajicova,ROZSYPALOVA Eva,ZEMAN Jiri,TESAROVA Marketa
- Journal of human genetics 57(7), 442-448, 2012-07-01
- NAID 10030965683
- Mechanism of increased respiration in an H⁺ -ATPase-defective mutant of Corynebacterium glutamicum
- Sawada Kazunori,Kato Yui,Imai Keita [他],Li Liyuan,Wada Masaru,Matsushita Kazunobu,Yokota Atsushi
- Journal of bioscience and bioengineering 113(4), 467-473, 2012-04
- … In addition, the transcriptional level of cytochrome bd oxidase, but not cytochrome bc_1-aa_3, also increased, which may help prevent the excess pmf generation caused by enhanced respiration. …
- NAID 110009444552
- Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
- Sacconi Sabrina,Salviati Leonardo,Trevisson Eva
- Journal of human genetics 54(7), 419-421, 2009-07-01
- NAID 10030731133
Related Links
- Cytochrome C Oxidase deficiency is a very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome C oxidase (COX), or Complex IV, an essential enzyme that is active in the subcellular structures that ...
- Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of ...
Related Pictures
★リンクテーブル★
| リンク元 | 「cytochrome oxidase deficiency」「チトクロムc酸化酵素欠損症」「シトクロムc酸化酵素欠損症」 |
| 関連記事 | 「deficiency」「C」「c」 |
「cytochrome oxidase deficiency」
チトクロム酸化酵素欠損症、チトクロム酸化酵素欠乏症、チトクロム酸化酵素欠乏
「チトクロムc酸化酵素欠損症」
「シトクロムc酸化酵素欠損症」
「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
「C」
- 炭素 carbon
- シトシン cytosine
- システイン cysteine
- シチジン
- セルシウス度 摂氏 degrees Celsius degree C
- 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語