関: Niemann-Pick disease type B

WordNet

select carefully from a group; "She finally picked her successor"; "He picked his way carefully"
remove in small bits; "pick meat from a bone"
a heavy iron tool with a wooden handle and a curved head that is pointed on both ends; "they used picks and sledges to break the rocks" (同)pickax, pickaxe
a small thin device (of metal or plastic or ivory) used to pluck a stringed instrument (同)plectrum, plectron
a basketball maneuver; obstructing an opponent with ones body; "he was called for setting an illegal pick"
a thin sharp implement used for removing unwanted material; "he used a pick to clean the dirt out of the cracks"
attack with or as if with a pickaxe of ice or rocky ground, for example; "Pick open the ice" (同)break_up
look for and gather; "pick mushrooms"; "pick flowers" (同)pluck, cull
pilfer or rob; "pick pockets"
provoke; "pick a fight or a quarrel"
write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
an impairment of health or a condition of abnormal functioning
the 2nd letter of the Roman alphabet (同)b
the blood group whose red cells carry the B antigen (同)type_B, group B
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(入念に)…‘を'『選ぶ』,選び取る / 〈草花・果実など〉‘を'『摘む』,もぐ / 〈鳥など〉‘の'羽をむしる;(…から)…‘を'むしる《+『名』+『from』+『名』》 / (とがった物で)…‘を'つつく,つついて穴をあける《+『名』+『with』+『名』》 / 〈鳥などが〉〈えさ〉‘を'つつく,つついて食べる / 〈争いなど〉‘を'しかける;(人に)〈口論など〉‘を'ふっかける《+『名』+『with』+『名』〈人〉》 / (針金などで)〈錠〉‘を'こじあける / 〈ポケット・さいふなど〉‘の'中身をすり取る / 〈弦楽器・弦〉‘を'指で鳴らす,つまびく / 入念に選ぶ / 〈鳥が〉えさをつつく;(食浴がなくて)〈人が〉(…を)少しずつ食べる《+『at』+『名』》 / 〈U〉(…の)選択(choice),(…を)選ぶこと(権利)《+『of』+『名』》 / 〈C〉(…から)選択された人(物);《the~》(…から)選ばれた最上の人(物)《+『of』+『名』》
《複合語を作って》「ほじる(つつく)道具」の意を表す / 《話》=plectrum
〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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1. ニーマン・ピック病の概要 overview of niemann pick disease

English Journal

Type B Niemann-Pick disease.

Villarrubia J1, Velasco-Rodríguez D2, Piris-Villaespesa M1, Caro M1, Méndez G1, Vallés A1.
British journal of haematology.Br J Haematol.2015 Nov 16. doi: 10.1111/bjh.13846. [Epub ahead of print]
PMID 26568526

Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

Rhein C1, Mühle C2, Kornhuber J3, Reichel M4.
International journal of molecular sciences.Int J Mol Sci.2015 Jun 15;16(6):13649-52. doi: 10.3390/ijms160613649.
Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missen
PMID 26084044

Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).

Manshadi MD1, Kamalidehghan B2, Keshavarzi F3, Aryani O4, Dadgar S5, Arastehkani A6, Tondar M7, Ahmadipour F8, Meng GY9, Houshmand M10,11.
International journal of molecular sciences.Int J Mol Sci.2015 Mar 24;16(4):6668-76. doi: 10.3390/ijms16046668.
BACKGROUND: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.METHODS: In order to determine the prevalence and distribution of
PMID 25811928

Japanese Journal

ACAT1-associated Late Endosomes/Lysosomes Significantly Improve Impaired Intracellular Cholesterol Metabolism and the Survival of Niemann-Pick Type C Mice

Kamikawa Masashi,Lei XiaoFeng,Fujiwara Yukio,Nishitsuji Kazuchika,Mizuta Hiroshi,Takeya Motohiro,Sakashita Naomi
ACTA HISTOCHEMICA ET CYTOCHEMICA 47(2), 35-43, 2014
… Because impaired free cholesterol transport from late endosomes results in Niemann-Pick type C disease (NPC), the induction of ACAT1-LE is a potential therapeutic intervention for NPC. … npc1–/– macrophages contained significant amounts of free cholesterol with negligible amounts of cholesteryl ester, while wild-type macrophages possessed the same amounts of both cholesterols. …
NAID 130003390848