transcobalamin deficiency

トランスコバラミン欠損症

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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. 有機酸血症 organic acidemias
• 2. ビタミンB12および葉酸欠乏症の生理学 physiology of vitamin b12 and folate deficiency
• 3. 好中球二次顆粒欠損症 neutrophil specific granule deficiency
• 4. 疾患予防におけるビタミン補給 vitamin supplementation in disease prevention

English Journal

• Autoimmune mechanisms in pernicious anaemia & thyroid disease.

• Osborne D1, Sobczyńska-Malefora A2.
• Autoimmunity reviews.Autoimmun Rev.2015 Sep;14(9):763-8. doi: 10.1016/j.autrev.2015.04.011. Epub 2015 May 1.
• Pernicious anaemia (PA) and some types of thyroid disease result from autoimmune processes. The autoimmune mechanisms in these conditions have not been fully elucidated. This review discusses the autoimmune mechanisms involved in PA and how these affect diagnosis and disease progression. In addition
• PMID 25936607

• Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2.

• Dutchak PA1, Laxman S1, Estill SJ1, Wang C2, Wang Y1, Wang Y2, Bulut GB3, Gao J2, Huang LJ3, Tu BP4.
• Cell reports.Cell Rep.2015 Jul 21;12(3):371-9. doi: 10.1016/j.celrep.2015.06.042. Epub 2015 Jul 9.
• Nitrogen permease regulator-like 2 (NPRL2) is a component of a conserved complex that inhibits mTORC1 (mammalian Target Of Rapamycin Complex 1) in response to amino acid insufficiency. Here, we show that NPRL2 is required for mouse viability and that its absence significantly compromises fetal liver
• PMID 26166573

• Low levels of cobalamin, epidermal growth factor, and normal prions in multiple sclerosis spinal cord.

• Scalabrino G1, Veber D2, De Giuseppe R3, Roncaroli F4.
• Neuroscience.Neuroscience.2015 Jul 9;298:293-301. doi: 10.1016/j.neuroscience.2015.04.020. Epub 2015 Apr 16.
• We have previously demonstrated that multiple sclerosis (MS) patients have abnormal cerebrospinal fluid (CSF) levels of the key myelin-related molecules cobalamin (Cbl), epidermal growth factor (EGF), and normal cellular prions (PrP(C)s), thus confirming that some CSF abnormalities may be co-respons
• PMID 25888933

Japanese Journal

• TC II deficiency : avoidance of false-negative molecular genetics by RNA-based investigations

• Haberle Johannes,Pauli Silke,Berning Christoph [他],KOCH Hans G,LINNEBANK Michael
• Journal of human genetics 54(6), 331-334, 2009-06-01
• NAID 10030730631

• 胃切除後大球性貧血症例におけるvitamin B12結合蛋白測定の意義

• 野村 勝俊,野口 芳一,大島 貴,吉川 貴己,福沢 邦康,牧野 達郎,円谷 彰,松本 昭彦
• 日本消化器外科学会雑誌 29(9), 1868-1872, 1996-09-01
• … 症例中結合蛋白量を測定し得た15例において結合蛋白総量はコントロールに比し増加しており,この傾向は血中B12濃度の正常な症例においても認められた.またVit.B12を組織中に移行させ得る唯一の蛋白であるtranscobalamin II(以下,Tc II)は胃切除群において変化を認めなかったが,Vit.B12と結合しているholo-Tc IIは減少する傾向にあった.これらの結果から胃切除後に血中濃度には反映されなくとも,体内のVit.B12欠乏が進行している可 …
• NAID 110001320930

Related Links

• transcobalamin deficiency - Genetics Home Reference

Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is found in animal products such as meat ...

• Transcobalamin 1 deficiency | Genetic and Rare Diseases ...

A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Transcobalamin 1 deficiency ... The Monarch Initiative brings together data about this ...

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★リンクテーブル★

リンク元	「トランスコバラミン欠損症」
関連記事	「deficiency」「transcobalamin」

「トランスコバラミン欠損症」

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英

transcobalamin deficiency

「deficiency」

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• 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

　

「transcobalamin」

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トランスコバラミン