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Journal Abstract Search

451 related items for PubMed ID: 8696348

  • 1. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
    Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.
    Nat Genet; 1996 Aug; 13(4):485-8. PubMed ID: 8696348
    [Abstract] [Full Text] [Related]

  • 2. 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.
    Indo Y.
    Hum Mutat; 2001 Dec; 18(6):462-71. PubMed ID: 11748840
    [Abstract] [Full Text] [Related]

  • 3. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
    Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.
    Am J Hum Genet; 1999 Jun; 64(6):1570-9. PubMed ID: 10330344
    [Abstract] [Full Text] [Related]

  • 4. Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.
    Indo Y, Mardy S, Tsuruta M, Karim MA, Matsuda I.
    Jpn J Hum Genet; 1997 Jun; 42(2):343-51. PubMed ID: 9290260
    [Abstract] [Full Text] [Related]

  • 5. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
    Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
    [Abstract] [Full Text] [Related]

  • 6. A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
    Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.
    J Invest Dermatol; 1999 May; 112(5):810-4. PubMed ID: 10233776
    [Abstract] [Full Text] [Related]

  • 7. [Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].
    Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y.
    Harefuah; 2005 Jun; 144(6):433-7, 453, 452. PubMed ID: 15999564
    [Abstract] [Full Text] [Related]

  • 8. [Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].
    Raspall-Chaure M, Del Toro-Riera M, Gratacós M, Cuenca-León E, Ferrer I, Indo Y, Roig-Quilis M, Macaya-Ruiz A.
    Rev Neurol; 2005 Jun; 41(4):218-22. PubMed ID: 16075400
    [Abstract] [Full Text] [Related]

  • 9. Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.
    Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.
    Clin Genet; 2009 Mar; 75(3):230-6. PubMed ID: 19250380
    [Abstract] [Full Text] [Related]

  • 10. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
    Mardy S, Miura Y, Endo F, Matsuda I, Indo Y.
    Hum Mol Genet; 2001 Feb 01; 10(3):179-88. PubMed ID: 11159935
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Indo Y.
    Clin Auton Res; 2002 May 01; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [Abstract] [Full Text] [Related]

  • 12. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
    Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B.
    Neuromuscul Disord; 2008 Feb 01; 18(2):159-66. PubMed ID: 18077166
    [Abstract] [Full Text] [Related]

  • 13. Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them.
    Barone R, Lempereur L, Anastasi M, Parano E, Pavone P.
    Neuropediatrics; 2005 Aug 01; 36(4):270-3. PubMed ID: 16138253
    [Abstract] [Full Text] [Related]

  • 14. Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.
    Indo Y.
    Clin Genet; 2012 Oct 01; 82(4):341-50. PubMed ID: 22882139
    [Abstract] [Full Text] [Related]

  • 15. Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis.
    Indo Y.
    Auton Neurosci; 2009 May 11; 147(1-2):3-8. PubMed ID: 19201660
    [Abstract] [Full Text] [Related]

  • 16. TrkA mediates an NGF survival response in NGF-independent sensory neurons but not in parasympathetic neurons.
    Allsopp TE, Robinson M, Wyatt S, Davies AM.
    Gene Ther; 1994 May 11; 1 Suppl 1():S59. PubMed ID: 8542404
    [Abstract] [Full Text] [Related]

  • 17. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
    Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.
    Am J Med Genet; 2000 Jun 19; 92(5):353-60. PubMed ID: 10861667
    [Abstract] [Full Text] [Related]

  • 18. Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
    Franco ML, Melero C, Sarasola E, Acebo P, Luque A, Calatayud-Baselga I, García-Barcina M, Vilar M.
    J Biol Chem; 2016 Oct 07; 291(41):21363-21374. PubMed ID: 27551041
    [Abstract] [Full Text] [Related]

  • 19.
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  • 20. Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.
    Smeyne RJ, Klein R, Schnapp A, Long LK, Bryant S, Lewin A, Lira SA, Barbacid M.
    Nature; 1994 Mar 17; 368(6468):246-9. PubMed ID: 8145823
    [Abstract] [Full Text] [Related]

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