glycosylphosphatidylinositol-anchored protein deficiency

グリコシルホスファチジルイノシトール結合蛋白質欠損症

WordNet

1. a mechanical device that prevents a vessel from moving (同)ground tackle
2. fix firmly and stably; "anchor the lamppost in concrete" (同)ground
3. a television reporter who coordinates a broadcast to which several correspondents contribute (同)anchorman, anchorperson
4. a central cohesive source of support and stability; "faith is his anchor"; "the keystone of campaign reform was the ban on soft money"; "he is the linchpin of this firm" (同)mainstay, keystone, backbone, linchpin, lynchpin
5. secure a vessel with an anchor; "We anchored at Baltimore" (同)cast anchor, drop anchor
6. any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"

PrepTutorEJDIC

1. 『いかり』(錨) / (いかりのような)固定装置 / 頼みの綱 / (またanchorman)リレーの最終走者(泳者),アンカー / 〈船〉'を'いかりで留める,停泊させる / (一般に)(…に)…'を'留める,固定する《+『名』+『to』+『名』》 / (…に)〈希望など〉'を'つなぐ《+『名』+『in』(『on』)+『名』》 / 〈船が〉いかりを降ろして停泊する;〈人が〉いかりを降ろして船を停泊させる
2. 〈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
3. 蛋白(たんばく)質

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 発作性夜間血色素尿症の病因 pathogenesis of paroxysmal nocturnal hemoglobinuria
• 2. 鉄のバランス調節 regulation of iron balance
• 3. 発作性夜間血色素尿症の臨床症状および診断 clinical manifestations and diagnosis of paroxysmal nocturnal hemoglobinuria
• 4. マラリアにおける貧血 anemia in malaria
• 5. 発作性夜間血色素尿症の治療および予後 treatment and prognosis of paroxysmal nocturnal hemoglobinuria

English Journal

• Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.

• Kassner U1, Salewsky B2, Wühle-Demuth M1, Szijarto IA1, Grenkowitz T1, Binner P3, März W4, Steinhagen-Thiessen E5, Demuth I2.
• European journal of human genetics : EJHG.Eur J Hum Genet.2015 Sep;23(9):1259-61. doi: 10.1038/ejhg.2014.295. Epub 2015 Jan 14.
• Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patie
• PMID 25585702

• Modified Ham test for atypical hemolytic uremic syndrome.

• Gavriilaki E1, Yuan X1, Ye Z1, Ambinder AJ1, Shanbhag SP1, Streiff MB1, Kickler TS2, Moliterno AR1, Sperati CJ3, Brodsky RA1.
• Blood.Blood.2015 Jun 4;125(23):3637-46. doi: 10.1182/blood-2015-02-629683. Epub 2015 Apr 10.
• Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by excessive activation of the alternative pathway of complement (APC). Atypical HUS is frequently a diagnosis of exclusion. Differentiating aHUS from other TMAs, especially thrombotic thrombocytopenic purp
• PMID 25862562

• CD55 deposited on synovial collagen fibers protects from immune complex-mediated arthritis.

• Karpus ON1, Kiener HP2, Niederreiter B3, Yilmaz-Elis AS4, van der Kaa J5, Ramaglia V6, Arens R7, Smolen JS8, Botto M9, Tak PP10,11, Verbeek JS12, Hamann J13.
• Arthritis research & therapy.Arthritis Res Ther.2015 Jan 17;17:6. doi: 10.1186/s13075-015-0518-4.
• INTRODUCTION: CD55, a glycosylphosphatidylinositol-anchored, complement-regulating protein (decay-accelerating factor), is expressed by fibroblast-like synoviocytes (FLS) with high local abundance in the intimal lining layer. We here explored the basis and consequences of this uncommon presence.METH
• PMID 25596646

Japanese Journal

• 原発性高カイロミクロン血症 (特集 高トリグリセライド血症 : 高トリグリセライド血症の最新知見) -- (高トリグリセライド血症 : 病因・病態および管理法)

• 日本臨床 71(9), 1578-1583, 2013-09
• NAID 40019788794

Related Links

• Glycosylphosphatidylinositol Anchor Modification Machinery ...

1. J Biol Chem. 2016 Feb 19;291(8):3905-17. doi: 10.1074/jbc.M115.705830. Epub 2015 Dec 18. Glycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in ...

• Glycosylphosphatidylinositol-anchored protein deficiency ...

1. Exp Hematol. 2009 Jan;37(1):42-51. doi: 10.1016/j.exphem.2008.09.002. Epub 2008 Nov 14. Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH. Savage WJ(1), Barber JP, Mukhina GL ...

---

★リンクテーブル★

リンク元	「グリコシルホスファチジルイノシトール結合蛋白質欠損症」
関連記事	「deficiency」「anchor」「glycosylphosphatidylinositol」「protein deficiency」

「グリコシルホスファチジルイノシトール結合蛋白質欠損症」

　　[★]

英

glycosylphosphatidylinositol-anchored protein deficiency

関

GPIアンカー型蛋白質欠損症

「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

　

「anchor」

　　[★]

• n.

• アンカー

• v.

• 繋留する、係留する、固着させる

関

adhesion、anchoring、sessile、stick、sticking、tether

　 　 　 　 　 　

「glycosylphosphatidylinositol」

　　[★]

グリコシルホスファチジルイノシトール

関

glycosyl-phosphatidylinositol、glycosylphosphatidylinositol anchor、GPI

「protein deficiency」

　　[★]

• タンパク質欠乏症、蛋白欠乏症、タンパク欠乏症