共 50 条
- [1] COL4A3 mutations cause focal segmental glomerulosclerosisJOURNAL OF MOLECULAR CELL BIOLOGY, 2014, 6 (06) : 498 - 505Xie, JingyuanWu, XiaoxiRen, HongWang, WeimingWang, ZhaohuiPan, XiaoxiaHao, XuTong, JunMa, JunYe, ZhibinMeng, GuoyuZhu, YufeiKiryluk, KrzysztofKong, XiangyinHu, LandianChen, Nan
- [2] COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathyJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (11): : 3004 - 3016Voskarides, KonstantinosDamianou, LoukasNeocleous, VassosZouvani, IoannaChristodoulidou, StaloHadjiconstantinou, ValsamakisIoannou, KyriacosAthanasiou, YiannisPatsias, CharalamposAlexopoulos, EfstathiosPierides, AlkisKyriacou, KyriacosDeltas, Constantinos
- [3] Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 (12) : 2398 - 2407Mastrangelo, AntonioMadeira, CatarinaCastorina, PierangelaGiani, MarisaMontini, Giovanni
- [4] Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisKIDNEY INTERNATIONAL, 2014, 86 (06) : 1253 - 1259Malone, Andrew F.Phelan, Paul J.Hall, GentzonCetincelik, UmranHomstad, AlisonAlonso, Andrea S.Jiang, RuijiLindsey, Thomas B.Wu, GuanghongSparks, Matthew A.Smith, Stephen R.Webb, Nicholas J. A.Kalra, Philip A.Adeyemo, Adebowale A.Shaw, Andrey S.Conlon, Peter J.Jennette, J. CharlesHowell, David N.Winn, Michelle P.Gbadegesin, Rasheed A.
- [5] Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental GlomerulosclerosisFRONTIERS IN PEDIATRICS, 2018, 6Braunisch, Matthias C.Buttner-Herold, MaikeGuenthner, RomanSatanovskij, RobinRiedhammer, Korbinian M.Herr, Pierre-MauriceKlein, Hanns-GeorgWahl, DagmarKuechle, ClaudiusRenders, LutzHeemann, UweSchmaderer, ChristophHoefele, Julia
- [6] COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis.: Glomerular epithelium destruction via basement membrane thinning?CONNECTIVE TISSUE RESEARCH, 2008, 49 (3-4) : 283 - 288Voskarides, KonstantinosPierides, AlkisDeltas, Constantinos
- [7] A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosisJOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2016, 20 (12) : 2328 - 2332Wu, YuanHu, PengzhiXu, HongboYuan, JinzhongYuan, LameiXiong, WeiDeng, XiongDeng, Hao
- [8] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuriaJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05): : 1248 - 1254Badenas, CPraga, MTazón, BHeidet, LArrondel, CArmengol, AAndrés, AMorales, ECamacho, JALens, XDávila, SMilà, MAntignac, CDarnell, ATorra, R
- [9] Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variantsNEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39Teran, Melissa PilcoFurlano, MonicaPybus, MarcJimenez, Victor MartinezGoma-Garces, ElenaCarrillo, Isabel GalanLeon, RafaelRomeo, Maria Jose Solerde Arizon, Leonor FayosPerera, AlexandreArs, ElisabetTorra, Roser
- [10] Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport SyndromePLOS ONE, 2017, 12 (05):Liu, Jian-HongWei, Xiu-XiuLi, AngCui, Ying-XiaXia, Xin-YiQin, Wei-SongZhang, Ming-ChaoGao, Er-ZhiSun, JunGao, Chun-LinLiu, Feng-XiaWu, Qiu-YueLi, Wei-WeiAsanLiu, Zhi-HongLi, Xiao-Jun