3型遺伝性感覚性自律神経性ニューロパチー、ライリー・デイ症候群
- 関
- Riley-Day syndrome
WordNet
- 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
- the 9th letter of the Roman alphabet (同)i
- involving or derived from the senses; "sensory experience"; "sensory channels" (同)sensorial
- relating to or controlled by the autonomic nervous system; "autonomic reflexes"
PrepTutorEJDIC
- 〈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
- 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
- 『私は』私が
- iodineの化学記号
- 感覚の
- 自律神経の
UpToDate Contents
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English Journal
- MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
- Hervé M1, Ibrahim el C2.
- Disease models & mechanisms.Dis Model Mech.2016 Aug 1;9(8):899-909. doi: 10.1242/dmm.025841. Epub 2016 Jun 29.
- Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ELP1). Small non-coding RNAs known as microR
- PMID 27483351
- Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.
- Cheishvili D1,2,3,4, Maayan C5,6, Holzer N5,6, Tsenter J7, Lax E8, Petropoulos S8, Razin A7.
- Journal of molecular neuroscience : MN.J Mol Neurosci.2016 Jul;59(3):382-91. doi: 10.1007/s12031-016-0760-5. Epub 2016 Apr 30.
- Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy, primarily presented in Ashkenazi Jews. The most common mutation in FD patients results from a single base pair substitution of an intronic splice site in the IKBKAP gene which disrupts normal mRNA splicing and leads to tissu
- PMID 27129499
Related Links
- Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These ...
- 1. J Pediatr Orthop. 2009 Jan-Feb;29(1):91-7. doi: 10.1097/BPO.0b013e31818f9cc4. Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV. Feldman DS(1), Ruchelsman DE, Spencer DB, Straight JJ ...
★リンクテーブル★
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- 英
- Riley-Day syndrome、hereditary sensory and autonomic neuropathy type III
- 関
- 家族性自律神経失調症、Riley-Day症候群、3型遺伝性感覚性自律神経性ニューロパチー
- 同
- Riley-Day
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- 英
- hereditary sensory and autonomic neuropathy type III
- 関
- ライリー・デイ症候群
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- (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
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- 関
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited
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- 関
- sensation、sense、sensing