SMA type 2

脊髄性筋萎縮症2型

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. 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"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. the 19th letter of the Roman alphabet (同)s
9. writing done with a typewriter (同)typewriting

PrepTutorEJDIC

1. 〈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
2. sulfurの化学記号 / {略}South[ern]

UpToDate Contents

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• 1. 脊髄性筋萎縮症 spinal muscular atrophy
• 2. 筋力低下を呈する小児の病因および評価 etiology and evaluation of the child with muscle weakness
• 3. III型遺伝性血管性浮腫 type iii hereditary angioedema
• 4. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
• 5. HIV感染における単純ヘルペスウイルスの影響：HIV予防の意味 effect of herpes simplex virus on hiv infection implications for hiv prevention

English Journal

• Renal expression of proto-oncogene Ets-1 on matrix remodeling in experimental diabetic nephropathy.

• Liu DX, Liu XM, Su Y, Zhang XJ.SourceDepartment of Endocrinology, The First Affiliated Hospital of Harbin Medical University, Nangang District, Heilongjiang Province, China.
• Acta histochemica.Acta Histochem.2011 Sep;113(5):527-33. Epub 2010 Jul 2.
• The molecular mechanisms of glomerulosclerosis and tubulointerstitial fibrosis in diabetic nephropathy (DN) have received scant attention. Ets-1 proto-oncogene plays a role in matrix remodeling by regulating matrix-degrading enzymes. We investigated the possible role of Ets-1 in the pathogenesis of
• PMID 20598359

• Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders.

• Bevan AK, Duque S, Foust KD, Morales PR, Braun L, Schmelzer L, Chan CM, McCrate M, Chicoine LG, Coley BD, Porensky PN, Kolb SJ, Mendell JR, Burghes AH, Kaspar BK.Source1] Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA [2] Integrated Biomedical Sciences Graduate Program, The Ohio State University, Columbus, Ohio, USA.
• Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2011 Aug 2. doi: 10.1038/mt.2011.157. [Epub ahead of print]
• Adeno-associated virus type 9 (AAV9) is a powerful tool for delivering genes throughout the central nervous system (CNS) following intravenous injection. Preclinical results in pediatric models of spinal muscular atrophy (SMA) and lysosomal storage disorders provide a compelling case for advancing A
• PMID 21811247

Japanese Journal

• Steady and Temporary Expressions of Smooth Muscle Actin in Hair, Vibrissa, Arrector Pili Muscle, and Other Hair Appendages of Developing Rats

• Morioka Kiyokazu,Arai Mary,Ihara Setsunosuke
• ACTA HISTOCHEMICA ET CYTOCHEMICA 44(3), 141-153, 2011
• … The immunohistochemical study using an antibody against smooth muscle alpha actin (SMA) showed that the arrector pili muscle develops approximately 1–2 weeks after birth in dorsal and ventral skin, but thereafter they degenerate. … The arrector pili muscle was not detected in the mystacial pad during any stage of development, even in the neighboring pelage-type hair follicle. …
• NAID 130000722778

• Development of Reciprocating Heat Engine Using Shape Memory Alloy : -Ratchet Type Drive System with Self-Drive Rotational Valve-

• KANEKO Kenji,ENOMOTO Kazuki
• Journal of Environment and Engineering 6(1), 131-139, 2011
• … This research aims at developing the heat engine system using Shape Memory Alloy (SMA) wires, which work by alternating supply of hot/cold water through the newly developed automatic valves. … The SMA wire is connected to the chain and sprocket system having the ratchet type bearing and the spindle with the flywheel. … The valves for supplying hot/cold water to the SMA wires are driven by the flywheel, so no outside power is necessary. …
• NAID 130000423908

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★リンクテーブル★

リンク元	「脊髄性筋萎縮症」「運動ニューロン疾患」
関連記事	「type」「SMA」「SM」「typed」「typing」

「脊髄性筋萎縮症」

　　[★]

英

spinal muscular atrophy, SMA

同？

脊髄進行性筋萎縮症 progressive spinal muscular atrophy

関

筋萎縮、運動ニューロン疾患, motor neuron disease, MND

運動ニューロン病

BET.439

• 上位運動ニューロン and/or 下位運動ニューロンが選択的に傷害される疾患の総称

上位運動ニューロン障害	原発性側索硬化症 PLS
上位+下位運動ニューロン障害	筋萎縮性側索硬化症 ALS		孤発性/家族性
下位運動ニューロン障害	脊髄性筋萎縮症 SMA	SMA type 1, infantile SMA, Werdnig-Hoffmann disease ウェルドニッヒ・ホフマン病 WH	AR
		SMA type 2, intermediate SMA
		SMA type 3, juvenile SMA, Kugelberg-Welander disease クーゲルベルク・ウェランダー病 KW	AR
	球脊髄性筋萎縮症 BSMA Kennedy-Alter-Sung disease ケネディ・オルター・スン症候群 KAS		XR、CAGリピート

遺伝形式

• 常染色体劣性遺伝

原因遺伝子

• 5q13.2に座乗するSMN1遺伝子の変異。

症状

• 下位運動ニューロンの脱落・変性
• 近位筋優位の筋萎縮　　　←　　　神経原性の筋萎縮なのに・・・　　(cf. 筋萎縮)

参考

uptodate

• 1. [charged] 脊髄性筋萎縮症 - uptodate [1]

OMIM

• 1. SPINAL MUSCULAR ATROPHY, TYPE I; SMA1, Gene map locus 5q12.2-q13.3

http://omim.org/entry/253300

• 2. SPINAL MUSCULAR ATROPHY, TYPE II; SMA2, Gene map locus 5q12.2-q13.3

http://omim.org/entry/253550

• 3. SPINAL MUSCULAR ATROPHY, TYPE III; SMA3, Gene map locus 5q12.2-q13.3, 5q12.2-q13.3

http://omim.org/entry/253400

• 4. SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4, Gene map locus 5q12.2-q13.3

http://omim.org/entry/271150

「運動ニューロン疾患」

　　[★]

英

motor neuron disease, MND

関

筋萎縮

• 神経系 091102IV

運動ニューロン病(BET.439)

• 上位運動ニューロン and/or 下位運動ニューロンが選択的に傷害される疾患の総称

上位運動ニューロン障害	原発性側索硬化症 PLS
上位+下位運動ニューロン障害	筋萎縮性側索硬化症 ALS
下位運動ニューロン障害	脊髄性筋萎縮症 SMA	SMA type 1, infantile SMA, Werdnig-Hoffmann disease
		SMA type 2, intermediate SMA
		SMA type 3, juvenile SMA, Kugelberg-Welander disease
	球脊髄性筋萎縮症 BSMA Kennedy-Alter-Sung disease

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関

form、mode、pattern、type specimen、typed

　 　 　 　 　 　 　 　

「SMA」

　　[★]

• 脊髄性筋萎縮症 spinal muscular atrophy
• 上腸間膜動脈 superior mesenteric artery
• 補足運動野 supplementary motor area
• 自発運動活性 spontaneous motor activity = locomotor activity

「SM」

　　[★]

• ストレプトマイシン streptomycin
• スフィンゴミエリン sphingomyelin
• 平滑筋 smooth muscle
• 粘膜下層/粘膜下組織 submucosa

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type

「typing」

　　[★]

• n.

• タイプで打つこと、タイピング。分類