Výsledky vyhledávání - "TRKA 遺伝子"

Nerve growth factor, interoception, and sympathetic neuron: Lesson from congenital insensitivity to pain with anhidrosis

Autor: Yasuhiro Indo

Publikováno v: Autonomic neuroscience: basic & clinical. 147(1-2):3-8

Nerve growth factor (NGF) is a well-known neurotrophic factor essential for the survival and maintenance of sensory and sympathetic neurons. Congenital insensitivity to pain with anhidrosis (CIPA) is a genetic disorder due to loss-of-function mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7ee310e0be9d9317fa1566ca8fab87
http://hdl.handle.net/2298/11429

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センテンセイムツウムカンショウワガクニノショウニカイケンキュウシャニヨッテアラタニテイショウハッケンサレタシッカンシッカンガイネンゲンインノキュウメイサレタシッカン 17

Autor: Indo, Yasuhiro

Publikováno v: 小児内科. 40(10):1701-1707

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::258891350bda4622fd676c096035d1fe
http://hdl.handle.net/2298/19420

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センテンセイムツウムカンショウ : トクシュウショウニノイタミシッカンビョウタイニオケルチンツウコントロール

Autor: Indo, Yasuhiro

Publikováno v: 小児科. 49(11):1623-1629

先天性無痛無汗症は温覚・痛覚と発汗機能を欠如し，精神遅滞を伴う常染色体劣性遺伝性疾患である。神経成長因子(NGF)のチロシンキナーゼ型受容体遺伝子TRKAの機能喪失性変異のため，N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::0cdc4933beba04eb241d95154e2af4e7
http://hdl.handle.net/2298/19422

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センテンセイムツウムカンショウノブンシビョウタイカラマナブイタミトタイオンチョウセツノノウシンケイカガク

Autor: Indo, Yasuhiro

Publikováno v: 無痛無汗症第14回シンポジウム報告書. :67-72

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::694c4e4bfb7fe4f44b65ef259d7f1d12
http://hdl.handle.net/2298/13530

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ムツウムカンショウコクサイシンポジウム 2003 デアイイデンシノドウテイソシテトウモロウ

Autor: Indo, Yasuhiro

Publikováno v: 無痛無汗症国際シンポジウム２００３報告書. :86-94

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::3e93a9c8aa69cfb1f48eeb958cefb216
http://hdl.handle.net/2298/13529

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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

Autor: Yasuhiro, Indo

Publikováno v: Clinical Autonomic Research. 12(suppl. 1):I20-I32

Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is an autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis (inability to sweat), absence of reacti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::506b301432f18fa15928cc1e61e66916
http://hdl.handle.net/2298/9248

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Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor

Autor: Ichiro Matsuda, Yuichi Miura, Yasuhiro Indo, Sek Mardy, Fumio Endo

Publikováno v: Human Molecular Genetics. 10(3):179-188

Human TRKA (NTRK1) encodes the receptor tyrosine kinases (RTKs) for nerve growth factor (NGF) and is the gene responsible for congenital insensitivity to pain with anhidrosis (CIPA), an autosomal recessive disorder characterized by a lack of pain sen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66be639cb8a4ad0c515be95d415fd4f2
http://hdl.handle.net/2298/9221

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Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

Autor: Ichiro Matsuda, Sek Mardy, Yasuhiro Indo, Yutaka Awaya, Fumio Endo, Kenji Nihei, Yuichi Miura

Publikováno v: Human Genetics. 106:116-124

The human TRKA gene encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder reported from various countries and characterized by anhi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8742907399b8024aee28e7a047a95fb5
https://doi.org/10.1007/s004390051018

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Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Autor: Yasuhiro Indo, Essam A.R. Ismail, Generoso Andria, Sek Mardy, Ichiro Matsuda, Gail E. Graham, Philippe M. Frossard, László Sztriha, Fumio Endo, Alfons Macaya, Yuichi Miura, William T. Gibson, Ennio Toscano, Allie Moosa

Publikováno v: The American Journal of Human Genetics. 64(6):1570-1579

SummaryCongenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05bedc0d1e8133d1825c5d2a2fef23c

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Structure and organization of the humanTRKA gene encoding a high affinity receptor for nerve growth factor

Autor: Yasuhiro Indo, Ichiro Matsuda, Motoko Tsuruta, Sek Mardy, Mohammad Azharul Karim

Publikováno v: Japanese Journal of Human Genetics. 42:343-351

Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. TRKA, a receptor tyrosine kinase cloned from a human colon cancer was later found to be expressed in the nervous system and phosph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::583b5f98fb3a80bcef4a8e4ee0784f49
https://doi.org/10.1007/bf02766957

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