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Journal Abstract Search

280 related items for PubMed ID: 10982191

  • 1. 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.
    Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.
    Hum Genet; 2000 Jan; 106(1):116-24. PubMed ID: 10982191
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
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  • 4. 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; 12 Suppl 1():I20-32. PubMed ID: 12102460
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  • 6. Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).
    Wang WB, Cao YJ, Lyu SS, Zuo RT, Zhang ZL, Kang QL.
    Gene; 2018 Dec 30; 679():253-259. PubMed ID: 30201336
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  • 8. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
    Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.
    Am J Med Genet A; 2017 Apr 30; 173(4):1009-1016. PubMed ID: 28328124
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  • 10. 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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  • 11. 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; 13(4):485-8. PubMed ID: 8696348
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  • 13. A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
    Sarasola E, Rodríguez JA, Garrote E, Arístegui J, García-Barcina MJ.
    BMC Med Genet; 2011 Jun 27; 12():86. PubMed ID: 21708027
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  • 14. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
    Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.
    Hum Mutat; 2001 Jun 27; 17(1):72. PubMed ID: 11139246
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  • 15. Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
    Nam TS, Li W, Yoon S, Eom GH, Kim MK, Jung ST, Choi SY.
    J Peripher Nerv Syst; 2017 Jun 27; 22(2):92-99. PubMed ID: 28177573
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  • 16. Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.
    Lv F, Xu XJ, Song YW, Li LJ, Wang O, Jiang Y, Xia WB, Xing XP, Gao P, Li M.
    Clin Chim Acta; 2017 May 27; 468():39-45. PubMed ID: 28192073
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  • 17. Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
    Gao L, Guo H, Ye N, Bai Y, Liu X, Yu P, Xue Y, Ma S, Wei K, Jin Y, Wen L, Xuan K.
    PLoS One; 2013 May 27; 8(6):e66863. PubMed ID: 23799134
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  • 18. Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.
    Wang T, Li H, Xiang J, Wei B, Zhang Q, Zhu Q, Liu M, Sun M, Li H.
    J Int Med Res; 2017 Apr 27; 45(2):549-555. PubMed ID: 28345382
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  • 19. 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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  • 20. Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
    Liu Z, Liu J, Liu G, Cao W, Liu S, Chen Y, Zuo Y, Chen W, Chen J, Zhang Y, Huang S, Qiu G, Giampietro PF, Zhang F, Wu Z, Wu N.
    J Int Med Res; 2018 Jun 07; 46(6):2445-2457. PubMed ID: 29619836
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