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Journal Abstract Search

167 related items for PubMed ID: 11719521

  • 1. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations.
    Miranda C, Di Virgilio M, Selleri S, Zanotti G, Pagliardini S, Pierotti MA, Greco A.
    J Biol Chem; 2002 Feb 22; 277(8):6455-62. PubMed ID: 11719521
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  • 2. 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
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  • 3. 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
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  • 4. Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
    Li M, Liang JY, Sun ZH, Zhang H, Yao ZR.
    Genet Mol Res; 2012 Aug 13; 11(3):2156-62. PubMed ID: 22653642
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  • 5. 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 13; 64(6):1570-9. PubMed ID: 10330344
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  • 6. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
    Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V.
    Neurogenetics; 2009 Apr 13; 10(2):161-5. PubMed ID: 19089473
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  • 9. The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.
    Greco A, Villa R, Fusetti L, Orlandi R, Pierotti MA.
    J Cell Physiol; 2000 Jan 13; 182(1):127-33. PubMed ID: 10567924
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  • 10. NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
    Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA.
    Neurogenetics; 2021 Oct 13; 22(4):333-341. PubMed ID: 34405299
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  • 14. 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 13; 18(6):462-71. PubMed ID: 11748840
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  • 16. 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 13; 12 Suppl 1():I20-32. PubMed ID: 12102460
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  • 17. Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
    López-Cortés A, Zambrano AK, Guevara-Ramírez P, Echeverría BA, Guerrero S, Cabascango E, Pérez-Villa A, Armendáriz-Castillo I, García-Cárdenas JM, Yumiceba V, Pérez-M G, Leone PE, Paz-Y-Miño C.
    BMC Med Genomics; 2020 Aug 17; 13(1):113. PubMed ID: 32807182
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  • 19. Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
    Zhao F, Mao B, Geng X, Ren X, Wang Y, Guan Y, Li S, Li L, Zhang S, You Y, Cao Y, Yang T, Zhao X.
    Eur J Neurol; 2020 Aug 17; 27(8):1697-1705. PubMed ID: 32219930
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  • 20. 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 17; 18(4):308-18. PubMed ID: 11668614
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