A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease by Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia

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Nueva variante en el gen COL4A3: etiología de un síndrome de Alport tipo 2 en varón de 38 años con sospecha de nefritis hereditaria by Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia

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Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient by Yue Song, Yifei Li, Liqun Lu, Changqiang Yang, Jing Lu

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Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations by Xiaowei Fan, Lifeng Ma, Zhiying Zhang, Yi Li, Meng Hao, Zhipeng Zhao, Yiduo Zhao, Fang Liu, Lijun Liu, Xingguang Luo, Peng Cai, Yansong Li, Longli Kang

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Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report by Ayumi Omori, Kan Katayama, Ryosuke Saiki, Satoru Masui, Kei Suzuki, Yoshinori Kanii, Kayo Tsujimoto, Shiro Nakamori, Tairo Kurita, Tomohiro Murata, Takahiro Inoue, Kaoru Dohi

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Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing by Congling Dai, Dehua Cheng, Weina Li, Sicong Zeng, Guangxiu Lu, Qianjun Zhang

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Analysis of a Familial IgAN Accompanied by COL4A3 Mutation by Lin SQ, Deng JX, Jiang H, Xiang SH, Lin WJ, Qian FQ, Wu SC, Wang FZ

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Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review by Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang

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A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series by Tinatin Tkemaladze, Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Tinatin Davitaia

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Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing by Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang

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Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population by Consolación Rosado, Elena Bueno, Carmen Felipe, Sebastián Valverde, Rogelio González-Sarmiento

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Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome by Duocai Wang, Meize Pan, Hang Li, Minchun Li, Ping Li, Fu Xiong, Hongbo Xiao

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Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis by Matthias C. Braunisch, Matthias C. Braunisch, Maike Büttner-Herold, Roman Günthner, Roman Günthner, Robin Satanovskij, Robin Satanovskij, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Pierre-Maurice Herr, Hanns-Georg Klein, Dagmar Wahl, Claudius Küchle, Lutz Renders, Uwe Heemann, Christoph Schmaderer, Julia Hoefele

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Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome by Sha Chen, Yufeng Zhang, Jinjin He, Dingwei Yang, Dingwei Yang

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Genetic diagnosis of Alport syndrome in 16 Chinese families by Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang

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Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family by Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong

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Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers by Ibrahim Sahin, Nefise Kandemir, Hanife Saat

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Liposome-lentivirus for miRNA therapy with molecular mechanism study by Fen Sun, Huaqing Chen, Xiaoyong Dai, Yibo Hou, Jing Li, Yinghe Zhang, Laiqiang Huang, Bing Guo, Dongye Yang

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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study by Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe

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Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome by Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene

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