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2012
M. Li, Liang, J. Y., Sun, Z. H., Zhang, H., and Yao, Z. R., Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis, vol. 11, pp. 2156-2162, 2012.
Beigelman A, Levy J, Hadad N, Pinsk V, et al. (2009). Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. Clin. Immunol. 130: 365-372. http://dx.doi.org/10.1016/j.clim.2008.09.005 PMid:18955016   Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, et al. (2001). 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. Hum. Mutat. 17: 72. http://dx.doi.org/10.1002/1098-1004(2001)17:1<72::AID-HUMU10>3.0.CO;2-X   Bonkowsky JL, Johnson J, Carey JC, Smith AG, et al. (2003). An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 112: e237-e241. http://dx.doi.org/10.1542/peds.112.3.e237 PMid:12949319   Greco A, Villa R, Fusetti L, Orlandi R, et al. (2000). 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. J. Cell Physiol. 182: 127-133. http://dx.doi.org/10.1002/(SICI)1097-4652(200001)182:1<127::AID-JCP14>3.0.CO;2-0   Guo YC, Liao KK, Soong BW, Tsai CP, et al. (2004). Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study. Eur. Neurol. 51: 206-214. http://dx.doi.org/10.1159/000078487 PMid:15159601   Huehne K, Zweier C, Raab K, Odent S, et al. (2008). Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscul. Disord. 18: 159-166. http://dx.doi.org/10.1016/j.nmd.2007.10.005 PMid:18077166   Indo Y (2001). 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. Hum. Mutat. 18: 462-471. http://dx.doi.org/10.1002/humu.1224 PMid:11748840   Indo Y, Tsuruta M, Hayashida Y, Karim MA, et al. (1996). Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat. Genet. 13: 485-488. http://dx.doi.org/10.1038/ng0896-485 PMid:8696348   Indo Y, Mardy S, Miura Y, Moosa A, et al. (2001). 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. Hum. Mutat. 18: 308-318. http://dx.doi.org/10.1002/humu.1192 PMid:11668614   Kilic SS, Ozturk R, Sarisozen B, Rotthier A, et al. (2009). Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics 10: 161-165. http://dx.doi.org/10.1007/s10048-008-0165-x PMid:19089473   Lee ST, Lee J, Lee M, Kim JW, et al. (2009). Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. Muscle Nerve 40: 855-859. http://dx.doi.org/10.1002/mus.21340 PMid:19618435   Lin YP, Su YN, Weng WC and Lee WT (2010). Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J. Child. Neurol. 25: 1548-1551. http://dx.doi.org/10.1177/0883073810375464 PMid:20647579   Mardy S, Miura Y, Endo F, Matsuda I, et al. (1999). Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am. J. Hum. Genet. 64: 1570- 1579. http://dx.doi.org/10.1086/302422 PMid:10330344 PMCid:1377900   Mardy S, Miura Y, Endo F, Matsuda I, et al. (2001). Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum. Mol. Genet. 10: 179-188. http://dx.doi.org/10.1093/hmg/10.3.179 PMid:11159935   Miranda C, Di VM, Selleri S, Zanotti G, et al. (2002). 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. J. Biol. Chem. 277: 6455-6462. http://dx.doi.org/10.1074/jbc.M110016200 PMid:11719521   Miura Y, Mardy S, Awaya Y, Nihei K, et al. (2000). 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. Hum. Genet. 106: 116-124. http://dx.doi.org/10.1007/s004390051018 PMid:10982191   Miura Y, Hiura M, Torigoe K, Numata O, et al. (2000). 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. Hum. Genet. 107: 205-209. http://dx.doi.org/10.1007/s004390000369 PMid:11071380   Rosemberg S, Marie SK and Kliemann S (1994). Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr. Neurol. 11: 50-56. http://dx.doi.org/10.1016/0887-8994(94)90091-4   Sato Y, Tsuboi Y, Kurosawa H, Sugita K, et al. (2004). Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. J. Clin. Immunol. 24: 302-308. http://dx.doi.org/10.1023/B:JOCI.0000025452.79585.a1 PMid:15114061   Shatzky S, Moses S, Levy J, Pinsk V, et al. (2000). Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli- Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am. J. Med. Genet. 92: 353-360. http://dx.doi.org/10.1002/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C   Suriu C, Khayat M, Weiler M, Kfir N, et al. (2009). Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin. Genet. 75: 230-236. http://dx.doi.org/10.1111/j.1399-0004.2008.01143.x PMid:19250380   Swanson AG (1963). Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings. Arch. Neurol. 8: 299-306. http://dx.doi.org/10.1001/archneur.1963.00460030083008 PMid:13979626   Vardy PA, Greenberg LW, Kachel C and de Leon GF (1979). Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency. Am. J. Dis. Child. 133: 1153-1155. PMid:92193