Results 11 to 20 of about 4,380 (145)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. [PDF]

PLoS ONE, 2017
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen.
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li   +15 more
doaj   +2 more sources

Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome [PDF]

Kidney International Reports, 2017
Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children.
Samar M. Said, Mary E. Fidler, Anthony M. Valeri, Brooke McCann, Wade Fiedler, Lynn D. Cornell, Mariam Priya Alexander, Ahmed M. Alkhunaizi, Anne Sullivan, Carl H. Cramer, Marie C. Hogan, Samih H. Nasr   +11 more
doaj   +2 more sources

Minnelide ameliorates Col4a5+/− mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress [PDF]

Frontiers in Pharmacology
BackgroundAlport syndrome (AS) is a progressive hereditary nephropathy caused by mutations in collagen IV genes, notably COL4A5, leading to proteinuria and kidney failure. Current therapies using RAAS inhibitors show limited efficacy.
Bao-wei Ji, Bao-wei Ji, Bao-wei Ji, Jun-chao Liu, Xue Wang, Ye Yin, Ye Yin, Ye Yin, Jing-jia Zhang, Jing-jia Zhang, Jing-jia Zhang, Fu-jie Wen, Hong Xu, Hong Xu, Hong Xu, Qian Shen, Qian Shen, Qian Shen, Jian Yu   +18 more
doaj   +2 more sources

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation

Biochemistry and Biophysics Reports, 2019
Alport syndrome (AS) is an inherited disorder characterized by glomerular basement membrane (GBM) abnormality and development of chronic kidney disease at an early age.
Kentarou Hashikami, Makoto Asahina, Kandai Nozu, Kazumoto Iijima, Michio Nagata, Michiyasu Takeyama   +5 more
doaj   +2 more sources

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons. [PDF]

PLoS ONE
Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi, Joseph J Porter, John D Lueck, Jeffrey H Miner   +3 more
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Identification of novel COL4A5 variants and prenatal diagnosis in three large families

Scientific Reports
Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in the genes of the α5 chains of collagen type IV (COL4A5). The early diagnosis and treatment are essential for the prognosis of AS.
Baitao Zeng, Yao Yu, Cong Liu, Xinyu Li, Qing Lu, Zhongfa Chen, Jia Chen, Jun Zou, Bicheng Yang, Yanqiu Liu, Yongyi Zou   +10 more
doaj   +2 more sources

Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome [PDF]

Frontiers in Pediatrics
ObjectivesAlport syndrome (AS) is an inherited kidney disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5. In this study, we aim to apply a split-luciferase bioluminescence assay to functionally assess COL4A3, COL4A4, or COL4A5 variants ...
Yue Cai, Ying-qi Lin, Xin-yu Kuang, Lei Sun, Meng-ying Li, Yu-jie Hu, Wen-yan Huang   +6 more
doaj   +2 more sources

Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene [PDF]

Scientific Reports
X-linked Alport syndrome (XLAS) is a hereditary glomerular basement membrane (GBM) disease caused by COL4A5 mutations, leading to end-stage renal disease. With unclear pathogenesis and limited treatments, reliable animal models are urgently needed.
Ran Zhang, Pei Jin Bai, Weina Jiang, Xuyan Liu, Shuimi Zhang, Zhi Wang, Leping Shao   +6 more
doaj   +2 more sources

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome [PDF]

Frontiers in Medicine
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-
Xue Wang, Xue Wang, Linlin Dong, Linlin Dong, Hui Qiu, Hui Qiu, Beibei Wang, Beibei Wang, Sanfeng Wang, Sanfeng Wang, Weiran Zhou, Weiran Zhou   +11 more
doaj   +2 more sources

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

Kidney International Reports
Introduction: Pathogenic variants in COL4A3–5 are common causes of inherited kidney disease. The clinical presentation extends from classical Alport syndrome (AS) to focal segmental glomerulosclerosis (FSGS) without extrarenal manifestation.
Bastian M. Krüger, Annika Jens, Anna Neuhaus, Jasmina Ćomić, Riccardo Berutti, Jonathan de Fallois, Friederike Petzold, Johannes Münch, Jan Kowald, Tom H. Lindner, Klemens Budde, Klara K. Brüning, Julia Thumfart, Jacob Haas, Carolin B. Brigl, Kerstin Amann, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajić, Evelyn Seelow, Charlotte Hammett, Kai-Uwe Eckardt, Korbinian M. Riedhammer, Eva V. Schrezenmeier, Julia Hoefele, Jan Halbritter   +27 more
doaj   +2 more sources