Results 1 to 10 of about 4,891 (195)

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
exaly   +6 more sources

COL4A3 expression in asthmatic epithelium depends on intronic methylation and ZNF263 binding [PDF]

ERJ Open Research, 2021
Background Reduction of COL4A3, one of the six isoforms of collagen 4, in asthmatic airways results in increased inflammation and angiogenesis, implicating it as a central part of asthma pathogenesis.
Sai Sneha Priya Nemani, Cornelis Joseph Vermeulen, Martin Pech, Alen Faiz, Brian George G. Oliver, Maarten van den Berge, Janette Kay Burgess, Matthias V. Kopp, Markus Weckmann   +8 more
doaj   +10 more sources

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesPlain Language Summary [PDF]

Kidney Medicine, 2023
Rationale & Objective: Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4) have been identified in a spectrum of glomerular basement membrane nephropathies, including thin basement membrane nephropathy and autosomal dominant Alport syndrome ...
Sander Groen in ’t Woud, Ilse M. Rood, Eric Steenbergen, Brigith Willemsen, Henry B. Dijkman, Michel van Geel, Jeroen Schoots, Jack F.M. Wetzels, Dorien Lugtenberg, Jeroen K.J. Deegens, Ernie M.H.F. Bongers   +10 more
doaj   +3 more sources

Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome [PDF]

Frontiers in Genetics
BackgroundAlport syndrome (AS) is a common hereditary kidney disease, mainly characterized by hematuria, progressive renal dysfunction, sensorineural hearing loss, and ocular symptoms, which significantly impacts patients the quality of life patients ...
Jinghan Gao, Huan Zhou, Li Zhang, Zihan Su, Shiguo Liu   +4 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

A single-nucleus transcriptomic characterization of EGFR G719X/S768I double-mutant lung adenocarcinoma identifies an immunosuppressive niche defined by COL4A3-CD44 interaction [PDF]

Translational Oncology
EGFR double mutations (G719X/S768I) represent a clinically recalcitrant subtype of lung adenocarcinoma (LUAD) characterized by diminished tyrosine kinase inhibitor (TKI) sensitivity.
Chao Zhang, Lin Liu, Ruoyu Deng, Jialing Lv, Chenghao Mei, Wen Zhang, Liuqing Yang, Fang Yang, Runxiang Yang, Yupeng Cun   +9 more
doaj   +2 more sources

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome [PDF]

Human Genomics
Background Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and both synonymous and intronic ...
Lina Wang, Zhi Wang, Yan Zhao, Xuyan Liu, Qiaomei Cui, Shuimi Zhang, Ran Zhang, Leping Shao   +7 more
doaj   +2 more sources

Proteomic Remodeling in the Failing Left Ventricle Adapting to Dyssynchrony. [PDF]

Proteomics Clin Appl
ABSTRACT Purpose In heart failure, dyssynchrony is associated with accelerated cardiac remodeling and a worse prognosis. Both restored with resynchronization. We have previously developed a mouse model of dyssynchrony and resynchronization and here assess changes in protein expression within that model.
Ljung K, Muntu NA, Reistam U, Kirk JA, Ståhlberg M.   +4 more
europepmc   +2 more sources

Thin Glomerular Basement Membrane Phenotypes With No Identified Pathogenic COL4A3/A4/A5 Variant [PDF]

Kidney International Reports
Introduction: Pathogenic (P) variants in COL4A3/A4/A5 genes are known to cause thin glomerular basement membrane (GBM) or Alport-related kidney disease; however, the exact diagnostic yield of genetic testing remains unknown.
Cristian V. Riella, Dan A. Colombo, Helmut G. Rennke, Astrid Weins, Seymour Rosen, Meei-Hua Lin, Teija Suhas, Isaac E. Stillman, Yael K. Heher, Giada Bianchi, Martina Zivna, Anthony J. Bleyer, Stanislav Kmoch, Weining Lu, Jeffrey H. Miner, Peter G. Czarnecki   +15 more
doaj   +2 more sources

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular Genetics & Genomic Medicine, 2021
Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and ...
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   +13 more
doaj   +1 more source