These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. 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]
4. 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 [Abstract] [Full Text] [Related]
6. 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 22; 64(6):1570-9. PubMed ID: 10330344 [Abstract] [Full Text] [Related]
7. 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 22; 106(1):116-24. PubMed ID: 10982191 [Abstract] [Full Text] [Related]
9. 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 22; 18(6):462-71. PubMed ID: 11748840 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
11. Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y. Hum Genet; 2000 Sep 13; 107(3):205-9. PubMed ID: 11071380 [Abstract] [Full Text] [Related]
12. 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 13; 18(4):308-18. PubMed ID: 11668614 [Abstract] [Full Text] [Related]
13. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder. Toscano E, della Casa R, Mardy S, Gaetaniello L, Sadile F, Indo Y, Pignata C, Andria G. Neuropediatrics; 2000 Feb 13; 31(1):39-41. PubMed ID: 10774995 [Abstract] [Full Text] [Related]
14. 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 13; 27(8):1697-1705. PubMed ID: 32219930 [Abstract] [Full Text] [Related]
15. 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 13; 40(5):855-9. PubMed ID: 19618435 [Abstract] [Full Text] [Related]
16. 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 13; 173(4):1009-1016. PubMed ID: 28328124 [Abstract] [Full Text] [Related]
17. NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. Indo Y. Neurosci Biobehav Rev; 2018 Apr 13; 87():1-16. PubMed ID: 29407522 [Abstract] [Full Text] [Related]
18. 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 13; 75(3):230-6. PubMed ID: 19250380 [Abstract] [Full Text] [Related]
19. 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 [Abstract] [Full Text] [Related]