BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 22653642)

  • 1. 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; 11(3):2156-62. PubMed ID: 22653642
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 40(5):855-9. PubMed ID: 19618435
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
    Geng X; Liu Y; Ren X; Guan Y; Wang Y; Mao B; Zhao X; Zhang X
    Mol Pain; 2018; 14():1744806918781140. PubMed ID: 29770739
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 94(19):e871. PubMed ID: 25984678
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 679():253-259. PubMed ID: 30201336
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 22(4):333-341. PubMed ID: 34405299
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 12():86. PubMed ID: 21708027
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 173(4):1009-1016. PubMed ID: 28328124
    [TBL] [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; 18(2):159-66. PubMed ID: 18077166
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.
    Liu S; Wu N; Liu J; Ming X; Chen J; Pavelec D; Su X; Qiu G; Tian Y; Giampietro P; Wu Z
    J Child Neurol; 2015 Sep; 30(10):1357-61. PubMed ID: 25316729
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 18(6):462-71. PubMed ID: 11748840
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 45(2):549-555. PubMed ID: 28345382
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 277(8):6455-62. PubMed ID: 11719521
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 22(2):92-99. PubMed ID: 28177573
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 468():39-45. PubMed ID: 28192073
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 27(8):1697-1705. PubMed ID: 32219930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.