Mutational analysis of the 5′ non-coding region of GJB1 in a Taiwanese cohort with Charcot–Marie–Tooth neuropathy
Tài liệu tham khảo
Murphy, 2012, Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing, J Neurol Neurosurg Psychiatry, 83, 706, 10.1136/jnnp-2012-302451
Saporta, 2011, Charcot–Marie–Tooth disease subtypes and genetic testing strategies, Ann Neurol, 69, 22, 10.1002/ana.22166
Bergoffen, 1993, Connexin mutations in X-linked Charcot–Marie–Tooth disease, Science, 262, 2039, 10.1126/science.8266101
Shy, 2007, CMT1X phenotypes represent loss of GJB1 gene function, Neurology, 68, 849, 10.1212/01.wnl.0000256709.08271.4d
Kleopa, 2012, How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?, Brain Res, 1487, 198, 10.1016/j.brainres.2012.03.068
Neuhaus, 1996, The human connexin32 gene is transcribed from two tissue-specific promoters, Biosci Rep, 16, 239, 10.1007/BF01207338
Ionasescu, 1996, Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot–Marie–Tooth neuropathy, Neurology, 47, 541, 10.1212/WNL.47.2.541
Houlden, 2004, Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction, Ann Neurol, 56, 730, 10.1002/ana.20267
Beauvais, 2006, Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE, Neuromuscul Disord, 16, 14, 10.1016/j.nmd.2005.09.008
Li, 2009, 459C>T point mutation in 5′ non-coding region of human GJB1 gene is linked to X-linked Charcot–Marie–Tooth neuropathy, J Peripher Nerv Syst, 14, 14, 10.1111/j.1529-8027.2009.00201.x
Murphy, 2011, A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot–Marie–Tooth disease, J Peripher Nerv Syst, 16, 65, 10.1111/j.1529-8027.2011.00321.x
Kabzinska, 2011, Two pathogenic mutations located within the 5′-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation, Acta Biochim Pol, 58, 359, 10.18388/abp.2011_2247
Harding, 1980, The clinical features of hereditary motor and sensory neuropathy types I and II, Brain, 103, 259, 10.1093/brain/103.2.259
Lin, 2011, The mutational spectrum in a cohort of Charcot–Marie–Tooth disease type 2 among the Han Chinese in Taiwan, PLoS One, 6, e29393, 10.1371/journal.pone.0029393
Bondurand, 2001, Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10, Hum Mol Genet, 10, 2783, 10.1093/hmg/10.24.2783
Bergmann, 2002, Allelic variants in the 5′ non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot–Marie–Tooth neuropathy (CMTX), J Med Genet, 39, e58, 10.1136/jmg.39.9.e58
Hudder, 2000, Analysis of a Charcot–Marie–Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene, J Biol Chem, 275, 34586, 10.1074/jbc.M005199200
Wang, 2000, Point mutation associated with X-linked dominant Charcot–Marie–Tooth disease impairs the P2 promoter activity of human connexin-32 gene, Brain Res Mol Brain Res, 78, 146, 10.1016/S0169-328X(00)00087-5