Publications
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“Expression and variation of Myf5 and MyoD1 genes in different tissues of Wuzhishan pigs”, vol. 14, pp. 3729-3735, 2015.
, “Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome”, vol. 13, pp. 9514-9522, 2014.
, “Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome”, vol. 11, pp. 1460-1464, 2012.
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Aya K, Tanaka H and Seino Y (2000). Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 57: 401-404.
http://dx.doi.org/10.1046/j.1523-1755.2000.00859.x
PMid:10652016
Heeringa SF, Vlangos CN, Chernin G, Hinkes B, et al. (2008). Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol. Dial. Transplant. 23: 3527-3533.
http://dx.doi.org/10.1093/ndt/gfn271
PMid:18503012 PMCid:2720813
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, et al. (2007). Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919.
http://dx.doi.org/10.1542/peds.2006-2164
PMid:17371932
Ismaili K, Pawtowski A, Boyer O, Wissing KM, et al. (2009). Genetic forms of nephrotic syndrome: a single-center experience in Brussels. Pediatr. Nephrol. 24: 287-294.
http://dx.doi.org/10.1007/s00467-008-0953-4
PMid:18709391
Jalanko H (2009). Congenital nephrotic syndrome. Pediatr. Nephrol. 24: 2121-2128.
http://dx.doi.org/10.1007/s00467-007-0633-9
PMid:17968594 PMCid:2753773
Kestilä M, Lenkkeri U, Mannikko M, Lamerdin J, et al. (1998). Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell 1: 575-582.
http://dx.doi.org/10.1016/S1097-2765(00)80057-X
Lahdenkari AT, Kestila M, Holmberg C, Koskimies O, et al. (2004). Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int. 65: 1856-1863.
http://dx.doi.org/10.1111/j.1523-1755.2004.00583.x
PMid:15086927
Lee BH, Ahn YH, Choi HJ, Kang HK, et al. (2009). Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. J. Korean Med. Sci. 24 (Suppl 1): S210-S214.
http://dx.doi.org/10.3346/jkms.2009.24.S1.S210
PMid:19194555 PMCid:2633182
Lenkkeri U, Mannikko M, McCready P, Lamerdin J, et al. (1999). Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64: 51-61.
http://dx.doi.org/10.1086/302182
PMid:9915943 PMCid:1377702
Pätäri-Sampo A, Ihalmo P and Holthofer H (2006). Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm. Ann. Med. 38: 483-492.
http://dx.doi.org/10.1080/07853890600978149
PMid:17101539
Santín S, Garcia-Maset R, Ruiz P, Gimenez I, et al. (2009). Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 76: 1268-1276.
http://dx.doi.org/10.1038/ki.2009.381
PMid:19812541
Schoeb DS, Chernin G, Heeringa SF, Matejas V, et al. (2010). Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol. Dial. Transplant. 25: 2970-2976.
http://dx.doi.org/10.1093/ndt/gfq088
PMid:20172850 PMCid:2948833
Shi Y, Ding J, Liu JC, Wang H, et al. (2005). NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Zhonghua Er Ke Za Zhi 43: 805-809.
PMid:16316524
Wu LQ, Hu JJ, Xue JJ and Liang DS (2011). Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Genet. Mol. Res. 10: 2517-2522.
http://dx.doi.org/10.4238/2011.October.18.1
PMid:22009864