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Journal Abstract Search

295 related items for PubMed ID: 29619836

  • 21. 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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  • 22. 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 Oct 07; 17(1):72. PubMed ID: 11139246
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  • 23. Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
    Wang Q, Guo S, Duan G, Xiang G, Ying Y, Zhang Y, Zhang X.
    Medicine (Baltimore); 2015 May 07; 94(19):e871. PubMed ID: 25984678
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  • 24. Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.
    Lee ST, Lee J, Lee M, Kim JW, Ki CS.
    Muscle Nerve; 2009 Nov 07; 40(5):855-9. PubMed ID: 19618435
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  • 25. Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family.
    Algahtani H, Naseer MI, Al-Qahtani M, Abdulrahman SA, Boker F, Shirah B.
    J Neurol Sci; 2016 Nov 15; 370():35-38. PubMed ID: 27772781
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  • 26. 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 15; 27(8):1697-1705. PubMed ID: 32219930
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  • 27. Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.
    Wang QL, Guo S, Duan G, Ying Y, Huang P, Liu JY, Zhang X.
    Pediatr Neurol; 2016 Aug 15; 61():63-9. PubMed ID: 27265460
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  • 28. 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 15; 182(1):127-33. PubMed ID: 10567924
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  • 29. Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.
    Xue XM, Liu YQ, Pang P, Sun CF.
    J Oral Maxillofac Surg; 2018 Dec 15; 76(12):2582.e1-2582.e9. PubMed ID: 30075136
    [Abstract] [Full Text] [Related]

  • 30. 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 Dec 15; 8(6):e66863. PubMed ID: 23799134
    [Abstract] [Full Text] [Related]

  • 31. Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis.
    Lin YP, Su YN, Weng WC, Lee WT.
    J Child Neurol; 2010 Dec 15; 25(12):1548-51. PubMed ID: 20647579
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  • 36. Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.
    Indo Y.
    Clin Genet; 2012 Oct 15; 82(4):341-50. PubMed ID: 22882139
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  • 39. Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
    Kurth I, Baumgartner M, Schabhüttl M, Tomni C, Windhager R, Strom TM, Wieland T, Gremel K, Auer-Grumbach M.
    Am J Med Genet B Neuropsychiatr Genet; 2016 Sep 15; 171(6):875-8. PubMed ID: 27184211
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  • 40. Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
    Li L, Jia C, Tang Y, Kong Y, Xia Y, Ma L.
    Front Pediatr; 2021 Sep 15; 9():638190. PubMed ID: 33748046
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