TY - JOUR AU - Swanson, A. G. PY - 1963 DA - 1963// TI - Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings JO - Arch Neurol VL - 8 UR - https://doi.org/10.1001/archneur.1963.00460030083008 DO - 10.1001/archneur.1963.00460030083008 ID - Swanson1963 ER - TY - JOUR AU - Axelrod, F. B. AU - Chelimsky, G. G. AU - Weese-Mayer, D. E. PY - 2006 DA - 2006// TI - Pediatric autonomic disorders JO - Pediatrics VL - 118 UR - https://doi.org/10.1542/peds.2005-3032 DO - 10.1542/peds.2005-3032 ID - Axelrod2006 ER - TY - JOUR AU - Nolano, M. AU - Crisci, C. AU - Santoro, L. AU - Barbieri, F. AU - Casale, R. AU - Kennedy, W. R. AU - Wendelschafer-Crabb, G. AU - Provitera, V. AU - Di Lorenzo, N. AU - Caruso, G. PY - 2000 DA - 2000// TI - Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis JO - Clin Neurophysiol VL - 111 UR - https://doi.org/10.1016/S1388-2457(00)00351-5 DO - 10.1016/S1388-2457(00)00351-5 ID - Nolano2000 ER - TY - JOUR AU - Verpoorten, N. AU - De Jonghe, P. AU - Timmerman, V. PY - 2006 DA - 2006// TI - Disease mechanisms in hereditary sensory and autonomic neuropathies JO - Neurobiol Dis VL - 21 UR - https://doi.org/10.1016/j.nbd.2005.08.004 DO - 10.1016/j.nbd.2005.08.004 ID - Verpoorten2006 ER - TY - JOUR AU - Indo, Y. PY - 2009 DA - 2009// TI - Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis JO - Auton Neurosci VL - 147 UR - https://doi.org/10.1016/j.autneu.2009.01.008 DO - 10.1016/j.autneu.2009.01.008 ID - Indo2009 ER - TY - JOUR AU - Indo, Y. AU - Tsuruta, M. AU - Hayashida, Y. AU - Karim, M. A. AU - Ohta, K. AU - Kawano, T. AU - Mitsubuchi, H. AU - Tonoki, H. AU - Awaya, Y. AU - Matsuda, I. PY - 1996 DA - 1996// TI - Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis JO - Nat Genet VL - 13 UR - https://doi.org/10.1038/ng0896-485 DO - 10.1038/ng0896-485 ID - Indo1996 ER - TY - JOUR AU - Martin-Zanca, D. AU - Oskam, R. AU - Mitra, G. AU - Copeland, T. AU - Barbacid, M. PY - 1989 DA - 1989// TI - Molecular and biochemical characterization of the human trk proto-oncogene JO - Mol Cell Biol VL - 9 UR - https://doi.org/10.1128/MCB.9.1.24 DO - 10.1128/MCB.9.1.24 ID - Martin-Zanca1989 ER - TY - JOUR AU - Levi-Montalcini, R. PY - 1987 DA - 1987// TI - The nerve growth factor 35 years later JO - Science VL - 237 UR - https://doi.org/10.1126/science.3306916 DO - 10.1126/science.3306916 ID - Levi-Montalcini1987 ER - TY - JOUR AU - Beigelman, A. AU - Levy, J. AU - Hadad, N. AU - Pinsk, V. AU - Haim, A. AU - Fruchtman, Y. AU - Levy, R. PY - 2009 DA - 2009// TI - Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor JO - Clin Immunol VL - 130 UR - https://doi.org/10.1016/j.clim.2008.09.005 DO - 10.1016/j.clim.2008.09.005 ID - Beigelman2009 ER - TY - JOUR AU - Mardy, S. AU - Miura, Y. AU - Endo, F. AU - Matsuda, I. AU - Sztriha, L. AU - Frossard, P. AU - Moosa, A. AU - Ismail, E. A. AU - Macaya, A. AU - Andria, G. AU - Toscano, E. AU - Gibson, W. AU - Graham, G. E. AU - Indo, Y. PY - 1999 DA - 1999// TI - Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor JO - Am J Hum Genet VL - 64 UR - https://doi.org/10.1086/302422 DO - 10.1086/302422 ID - Mardy1999 ER - TY - JOUR AU - Miura, Y. AU - Mardy, S. AU - Awaya, Y. AU - Nihei, K. AU - Endo, F. AU - Matsuda, I. AU - Indo, Y. PY - 2000 DA - 2000// TI - 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 JO - Hum Genet VL - 106 UR - https://doi.org/10.1007/s004390051018 DO - 10.1007/s004390051018 ID - Miura2000 ER - TY - JOUR AU - Bodzioch, M. AU - Lapicka, K. AU - Aslanidis, C. AU - Kacinski, M. AU - Schmitz, G. PY - 2001 DA - 2001// TI - 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 JO - Hum Mutat VL - 17 UR - https://doi.org/3.0.CO;2-X DO - 3.0.CO;2-X ID - Bodzioch2001 ER - TY - JOUR AU - Indo, Y. AU - Mardy, S. AU - Miura, Y. AU - Moosa, A. AU - Ismail, E. A. AU - Toscano, E. AU - Andria, G. AU - Pavone, V. AU - Brown, D. L. AU - Brooks, A. AU - Endo, F. AU - Matsuda, I. PY - 2001 DA - 2001// TI - 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 JO - Hum Mutat VL - 18 UR - https://doi.org/10.1002/humu.1192 DO - 10.1002/humu.1192 ID - Indo2001 ER - TY - JOUR AU - Bonkowsky, J. L. AU - Johnson, J. AU - Carey, J. C. AU - Smith, A. G. AU - Swoboda, K. J. PY - 2003 DA - 2003// TI - An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis JO - Pediatrics VL - 112 UR - https://doi.org/10.1542/peds.112.3.e237 DO - 10.1542/peds.112.3.e237 ID - Bonkowsky2003 ER - TY - JOUR AU - Verpoorten, N. AU - Claeys, K. G. AU - Deprez, L. AU - Jacobs, A. AU - Van Gerwen, V. AU - Lagae, L. AU - Arts, W. F. AU - De Meirleir, L. AU - Keymolen, K. AU - Ceuterick-de Groote, C. AU - De Jonghe, P. AU - Timmerman, V. AU - Nelis, E. PY - 2006 DA - 2006// TI - Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV JO - Neuromuscul Disord VL - 16 UR - https://doi.org/10.1016/j.nmd.2005.10.007 DO - 10.1016/j.nmd.2005.10.007 ID - Verpoorten2006 ER - TY - JOUR AU - Huehne, K. AU - Zweier, C. AU - Raab, K. AU - Odent, S. AU - Bonnaure-Mallet, M. AU - Sixou, J. AU - Landrieu, P. AU - Goizet, C. AU - Sarlangue, J. AU - Baumann, M. AU - Eggermann, T. AU - Rauch, A. AU - Ruppert, S. AU - Stettner, G. M. AU - Rautenstrauss, B. PY - 2008 DA - 2008// TI - Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis JO - Neuromuscul Disord VL - 18 UR - https://doi.org/10.1016/j.nmd.2007.10.005 DO - 10.1016/j.nmd.2007.10.005 ID - Huehne2008 ER - TY - JOUR AU - Tüysüz, B. AU - Bayrakli, F. AU - DiLuna, M. L. AU - Bilguvar, K. AU - Bayri, Y. AU - Yalcinkaya, C. AU - Bursali, A. AU - Ozdamar, E. AU - Korkmaz, B. AU - Mason, C. E. AU - Ozturk, A. K. AU - Lifton, R. P. AU - State, M. W. AU - Gunel, M. PY - 2008 DA - 2008// TI - Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population JO - Neurogenetics VL - 9 UR - https://doi.org/10.1007/s10048-008-0121-9 DO - 10.1007/s10048-008-0121-9 ID - Tüysüz2008 ER - TY - JOUR AU - Suriu, C. AU - Khayat, M. AU - Weiler, M. AU - Kfir, N. AU - Cohen, C. AU - Zinger, A. AU - Aslanidis, C. AU - Schmitz, G. AU - Falik-Zaccai, T. C. PY - 2009 DA - 2009// TI - Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene JO - Clin Genet VL - 75 UR - https://doi.org/10.1111/j.1399-0004.2008.01143.x DO - 10.1111/j.1399-0004.2008.01143.x ID - Suriu2009 ER - TY - JOUR AU - Lee, S. AU - Lee, J. AU - Lee, M. AU - Kim, J. AU - Ki, C. PY - 2009 DA - 2009// TI - Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis JO - Muscle Nerve VL - 40 UR - https://doi.org/10.1002/mus.21340 DO - 10.1002/mus.21340 ID - Lee2009 ER - TY - JOUR AU - Nicholson, P. AU - Yepiskoposyan, H. AU - Metze, S. AU - Zamudio Orozco, R. AU - Kleinschmidt, N. AU - Mühlemann, O. PY - 2010 DA - 2010// TI - Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors JO - Cell Mol Life Sci VL - 67 UR - https://doi.org/10.1007/s00018-009-0177-1 DO - 10.1007/s00018-009-0177-1 ID - Nicholson2010 ER - TY - JOUR AU - Mardy, S. AU - Miura, Y. AU - Endo, F. AU - Matsuda, I. AU - Indo, Y. PY - 2001 DA - 2001// TI - Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor JO - Hum Mol Genet VL - 10 UR - https://doi.org/10.1093/hmg/10.3.179 DO - 10.1093/hmg/10.3.179 ID - Mardy2001 ER - TY - JOUR AU - Miranda, C. AU - Di Virgilio, M. AU - Selleri, S. AU - Zanotti, G. AU - Pagliardini, S. AU - Pierotti, M. A. AU - Greco, A. PY - 2002 DA - 2002// TI - 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 JO - J Biol Chem VL - 277 UR - https://doi.org/10.1074/jbc.M110016200 DO - 10.1074/jbc.M110016200 ID - Miranda2002 ER - TY - JOUR AU - Miranda, C. AU - Selleri, S. AU - Pierotti, M. A. AU - Greco, A. PY - 2002 DA - 2002// TI - The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor JO - J Invest Dermatol VL - 119 UR - https://doi.org/10.1046/j.1523-1747.2002.00140.x DO - 10.1046/j.1523-1747.2002.00140.x ID - Miranda2002 ER - TY - JOUR AU - Lynch, T. J. AU - Bell, D. W. AU - Sordella, R. AU - Gurubhagavatula, S. AU - Okimoto, R. A. AU - Brannigan, B. W. AU - Harris, P. L. AU - Haserlat, S. M. AU - Supko, J. G. AU - Haluska, F. G. AU - Louis, D. N. AU - Christiani, D. C. AU - Settleman, J. AU - Haber, D. A. PY - 2004 DA - 2004// TI - Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib JO - N Engl J Med VL - 350 UR - https://doi.org/10.1056/NEJMoa040938 DO - 10.1056/NEJMoa040938 ID - Lynch2004 ER - TY - JOUR AU - Miranda, C. AU - Zanotti, G. AU - Pagliardini, S. AU - Ponzetto, C. AU - Pierotti, M. A. AU - Greco, A. PY - 2002 DA - 2002// TI - Gain of function mutations of RTK conserved residues display differential effects on NTRK1 kinase activity JO - Oncogene VL - 21 UR - https://doi.org/10.1038/sj.onc.1206052 DO - 10.1038/sj.onc.1206052 ID - Miranda2002 ER - TY - JOUR AU - Freeman, R. PY - 2005 DA - 2005// TI - Autonomic peripheral neuropathy JO - Lancet VL - 365 UR - https://doi.org/10.1016/S0140-6736(05)74815-7 DO - 10.1016/S0140-6736(05)74815-7 ID - Freeman2005 ER - TY - STD TI - The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/12/86/prepub UR - http://www.biomedcentral.com/1471-2350/12/86/prepub ID - ref27 ER -