[1] |
Weening JJ, Jennette JC. Historical milestones in renal pathology [J]. Virchows Arch, 2012,461(1): 3-11.
|
[2] |
Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease [J]. Clin Genet,1974,6(2): 98-118.
|
[3] |
Parevson D, Scaioli V, Laura M.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease [J]. Neuromolecular Med,2006,8(1-2): 3-22.
|
[4] |
Jani-Acsadi A, Krajewski K, Shy ME.Charcot-Marie-Tooth neuropathies:diagnosis and management [J].Semin Neurol,2008,28(2): 185-194.
|
[5] |
Barisic N, C1aeys KG, Sirotkovic-Skerlev M, et al. Charcot-Marie-Tooth disease: a clinico-genetic confrontation [J].Ann Hum Genet,2008,72(3): 416-441.
|
[6] |
Tazir M, Hamadouche T, Nouioua S, et al.Hereditary motor and sensory neuropathies or Chareot-Marie-Tooth diseases:an update [J].J Neurol Sci,2014,347(1-2): 14-22.
|
[7] |
Paul MD, Fernandez D, Pryse-Phillips W, et al. Charcot-Marie-Tooth disease and nephropathy in a mother and daughter with a review of the literature [J]. Nephron,1990,54(1): 80-85.
|
[8] |
Machuca E, Benoit G, Antignac C. Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology [J]. Hum Mol Genet,2009,18(R2): R185-R194.
|
[9] |
Chhabra ES, Higgs HN. INF2 is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization [J]. J Biol Chem,2006,281(36): 26754-26767.
|
[10] |
Boyer O, Nevo F, Plaisier E, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy [J]. N Engl J Med, 2011, 365(25): 2377-2388.
|
[11] |
Mademan I, Deconinck T, Dinopoulos A, et al. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy [J]. Neurology,2013,81(22): 1953-1958.
|
[12] |
Toyota K, Ogino D, Hayashi M, et al. INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis [J]. J Peripher Nerv Syst,2013,18(1): 97-98.
|
[13] |
Rodriguez PQ, Lohkamp B, Celsi G, et al. Novel INF2 mutation p.L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy [J]. Pediatr Nephrol, 2013,28(2): 339-343.
|
[14] |
Andrés-Delgado L, Antón OM, Madrid R, et al. Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes [J]. Blood,2010,116(26): 5919-5929.
|
[15] |
Frank M. MAL, a proteolipid in glycosphingolipid enriched domains: functional implications in myelin and beyond [J]. Prog Neurobiol,2000,60(6): 531-544.
|
[16] |
Madrid R, Aranda JF, Rodríguez-Fraticelli AE, et al. The formin INF2 regulates basolateral-to-apical transcytosis and lumen formation in association with Cdc42 and MAL2 [J]. Dev Cell,2010,18(5): 814-827.
|
[17] |
Benninger Y, Thurnherr T, Pereira JA, et al. Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development [J]. J Cell Biol,2007,177(6): 1051-1061.
|
[18] |
Fillod I, Cochat P, Colon S, et al. Nephropathy and Charcot-Marie-Tooth disease: a case report [J]. Pediatrie,1990,45(5): 319-322.
|
[19] |
Sun H, Schlondorff JS, Brown EJ, et al. Rho activation of mDia formins is modulated by an interaction with inverted formin 2(INF2) [J]. Proc Natl Acad Sci USA,2011,108(7): 2933-2938.
|
[20] |
Sun H, Schlondorff JS, Higgs HN, et al. Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling [J]. J Am Soc Nephrol,2013,24(6): 917-929.
|
[21] |
Sun H, Al-Romaih KI, MacRae CA, et al. Human kidney disease-causing INF2 mutations perturb Rho/Dia signaling in the glomerulus [J]. EBioMedicine,2014,1(2-3): 107-115.
|
[22] |
Zhu L, Jiang R, Aoudjit L, et al. Activation of RhoA in podocytes induces focal segmental glomerulosclerosis [J]. J Am Soc Nephrol,2011,22(9): 1621-1630.
|
[23] |
Gupta IR, Baldwin C, Auguste D, et al. ARHGDIA: a novel gene implicated in nephrotic syndrome [J]. J Med Genet,2013,50(5): 330-338.
|
[24] |
Jo UH, Han SG, Seo JH, et al. The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population [J]. BMC Cancer,2008,8: 359.
|
[25] |
Brewer MH, Ma KH, Beecham GW, et al. Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2 [J]. Hum Mol Genet, 2014, 23(19): 5171-5187.
|
[26] |
Tachi N, Kikuchi S, Kozuka N, et al. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1 [J]. Pediatr Neurol,2005, 32(4): 288-290.
|
[27] |
Steinle NI, Kazlauskaite R, Imumorin IG, et al. Variation in the lamin A/C gene:associations with metabolic syndrome [J]. Arterioscler Thromb Vasc Biol,2004,24(9): 1708-1713.
|
[28] |
De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse [J]. Am J Hum Genet,2002,70(3): 726-736.
|
[29] |
Grupe A, Abraham R, Li Y, et al. Evidence for novel susceptibility genes for late-onset Alzheimer′s disease from a genome-wide association study of putative functional variants [J]. Hum Mol Genet,2007,16(8): 865-873.
|