4型遺伝性感覚性自律神経性ニューロパチー、無痛無汗症
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
- The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.
- Chaverra M1, George L1,2, Mergy M1, Waller H1, Kujawa K3, Murnion C1, Sharples E1, Thorne J1,4, Podgajny N1, Grindeland A5, Ueki Y1, Eiger S1, Cusick C1, Babcock AM3, Carlson GA5, Lefcort F6.
- Disease models & mechanisms.Dis Model Mech.2017 May 1;10(5):605-618. doi: 10.1242/dmm.028258. Epub 2017 Feb 6.
- PMID 28167615
- DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.
- Smets M, Link S, Wolf P, Schneider K, Solis V, Ryan J, Meilinger D, Qin W, Leonhardt H.
- Human molecular genetics.Hum Mol Genet.2017 Apr 15;26(8):1522-1534. doi: 10.1093/hmg/ddx057.
- DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mut
- PMID 28334952
- Towards a functional pathology of hereditary neuropathies.
- Weis J1, Claeys KG2,3,4, Roos A2,5, Azzedine H2, Katona I2, Schröder JM2, Senderek J6.
- Acta neuropathologica.Acta Neuropathol.2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28.
- PMID 27896434
Japanese Journal
- 先天性無痛無汗症児に発症した下顎骨骨髄炎 : 歯髄診断に透過型光電脈波法(TLP)を応用した1例
- Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV: Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
- Molecular Basis of Congenital Insensitivity to Pain With Anhidrosis (CIPA) : Mutations and Polymorphisms in TRKA (NTRK1) Gene Encoding the Receptor Tyrosine Kinase for Nerve Growth Factor
Related Links
- Important It is possible that the main title of the report Hereditary Sensory and Autonomic Neuropathy Type IV is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder ...
- Type IV Hereditary Sensory and Autonomic Neuropathy, also known as Congenital Insensitivity to Pain with Anhidrosis (CIPA), is characterized by the loss of pain and temperature perception in addition to the lack of sweating. [1] A ...
★リンクテーブル★
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- 英
- hereditary sensory and autonomic neuropathy type IV
- 関
- 4型遺伝性感覚性自律神経性ニューロパチー
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- 英
- hereditary sensory and autonomic neuropathy type IV
- 関
- 無痛無汗症
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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
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- 関
- autonomous, autonomy, vegetativus