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2013
G. - X. Wang, Wang, D. - W., Yi, C. - Y., Qu, J. - S., and Wang, Y. - L., Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children, vol. 12, pp. 1168-1175, 2013.
Ali M, Girimaji SC, Markandaya M, Shukla AK, et al. (2005). Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Acta Neurol. Scand. 111: 54-63. http://dx.doi.org/10.1111/j.1600-0404.2004.00366.x PMid:15595939   Beauchamp RL, Banwell A, McNamara P, Jacobsen M, et al. (1998). Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum. Mutat. 12: 408-416. http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P   Camposano SE, Greenberg E, Kwiatkowski DJ and Thiele EA (2009). Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann. Hum. Genet. 73: 141-146. http://dx.doi.org/10.1111/j.1469-1809.2008.00496.x PMid:19133941 PMCid:2650014   Choi JE, Chae JH, Hwang YS and Kim KJ (2006). Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex. Brain Dev. 28: 440-446. http://dx.doi.org/10.1016/j.braindev.2006.01.006 PMid:16554133   Garami A, Zwartkruis FJ, Nobukuni T, Joaquin M, et al. (2003). Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol. Cell 11: 1457-1466. http://dx.doi.org/10.1016/S1097-2765(03)00220-X   Huang J and Manning BD (2008). The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem. J. 412: 179-190. http://dx.doi.org/10.1042/BJ20080281 PMid:18466115 PMCid:2735030   Hung CC, Su YN, Chien SC, Liou HH, et al. (2006). Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med. Genet. 7: 72. http://dx.doi.org/10.1186/1471-2350-7-72 PMid:16981987 PMCid:1592085   Jentarra GM, Rice SG, Olfers S, Saffen D, et al. (2011). Evidence for population variation in TSC1 and TSC2 gene expression. BMC Med. Genet. 12: 29. http://dx.doi.org/10.1186/1471-2350-12-29 PMid:21345208 PMCid:3051885   Krymskaya VP (2003). Tumour suppressors hamartin and tuberin: intracellular signalling. Cell Signal. 15: 729-739. http://dx.doi.org/10.1016/S0898-6568(03)00040-8   Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, et al. (2009). Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med. Genet. 10: 88. http://dx.doi.org/10.1186/1471-2350-10-88 PMid:19747374 PMCid:2753308   Napolioni V and Curatolo P (2008). Genetics and molecular biology of tuberous sclerosis complex. Curr. Genomics 9: 475-487. http://dx.doi.org/10.2174/138920208786241243 PMid:19506736 PMCid:2691673   Noonan DJ, Lou D, Griffith N and Vanaman TC (2002). A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. Arch. Biochem. Biophys. 398: 132-140. http://dx.doi.org/10.1006/abbi.2001.2682 PMid:11811958   Orlova KA and Crino PB (2010). The tuberous sclerosis complex. Ann. N. Y. Acad. Sci. 1184: 87-105. http://dx.doi.org/10.1111/j.1749-6632.2009.05117.x PMid:20146692 PMCid:2892799   Povey S, Burley MW, Attwood J, Benham F, et al. (1994). Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann. Hum. Genet. 58: 107-127. http://dx.doi.org/10.1111/j.1469-1809.1994.tb01881.x PMid:7979156   Roach ES, Gomez MR and Northrup H (1998). Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J. Child Neurol. 13: 624-628. http://dx.doi.org/10.1177/088307389801301206 PMid:9881533   The European Chromosome 16 Tuberous Sclerosis Consortium (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75: 1305-1315.   van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, et al. (1997). Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277: 805-808. http://dx.doi.org/10.1126/science.277.5327.805 PMid:9242607   Wang GX, Wang DW, Zhao JS, Wang SF, et al. (2011). A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex. Genet. Mol. Res. 10: 107-113. http://dx.doi.org/10.4238/vol10-1gmr977 PMid:21268779   Yao FM, Fan X, Zhou FS, Quan H, et al. (2008). Analysis of gene mutations in two Chinese patients with tuberous sclerosis. Zhongguo Ma Feng Pi Fu Bing Za Zhi 24: 861-863.
2011
G. - X. Wang, Wang, D. - W., Zhao, J. - S., Wang, S. - F., and Sun, R. - P., A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex, vol. 10. pp. 107-113, 2011.
 Garami A, Zwartkruis FJ, Nobukuni T, Joaquin M, et al. (2003). Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol. Cell 11: 1457-1466.http://dx.doi.org/10.1016/S1097-2765(03)00220-X Huang J and Manning BD (2008). The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem. J. 412: 179-190.http://dx.doi.org/10.1042/BJ20080281PMid:18466115 PMCid:2735030 Hung CC, Su YN, Chien SC, Liou HH, et al. (2006). Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med. Genet. 7: 72.http://dx.doi.org/10.1186/1471-2350-7-72PMid:16981987 PMCid:1592085 Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, et al. (2009). Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med. Genet. 10: 88.http://dx.doi.org/10.1186/1471-2350-10-88PMid:19747374 PMCid:2753308 Napolioni V and Curatolo P (2008). Genetics and molecular biology of tuberous sclerosis complex. Curr. Genomics 9: 475-487.http://dx.doi.org/10.2174/138920208786241243PMid:19506736 PMCid:2691673 Orlova KA and Crino PB (2010). The tuberous sclerosis complex. Ann. N. Y. Acad. Sci. 1184: 87-105.http://dx.doi.org/10.1111/j.1749-6632.2009.05117.xPMid:20146692 PMCid:2892799 Povey S, Burley MW, Attwood J, Benham F, et al. (1994). Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann. Hum. Genet. 58: 107-127.http://dx.doi.org/10.1111/j.1469-1809.1994.tb01881.xPMid:7979156 Roach ES, Gomez MR and Northrup H (1998). Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J. Child Neurol. 13: 624-628.http://dx.doi.org/10.1177/088307389801301206PMid:9881533 Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, et al. (2008). Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. Kobe J. Med. Sci. 54: E73-E81.PMid:18772611 van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, et al. (1997). Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277: 805-808.http://dx.doi.org/10.1126/science.277.5327.805PMid:9242607 Wang GX, Sun RP and Song FL (2010). A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genet. Mol. Res. 9: 41-47.http://dx.doi.org/10.4238/vol9-1gmr685PMid:20082269