Results 31 to 40 of about 23,214 (166)

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end‐stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X‐linked
Ole Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, Mads Thomassen, Jens Michael Hertz   +4 more
doaj   +2 more sources

Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome [PDF]

Kidney Diseases, 2021
Background: Alport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being mostly caused by mutations in COL4A3, COL­4A4, and COL4A5.
Xiaoling Hu, Jiahui Zhang, Yuan Lv, Xijing Chen, Guofang Feng, Liya Wang, Yinghui Ye, Fan Jin, Yimin Zhu   +8 more
doaj   +2 more sources

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations

Kidney International Reports, 2017
Introduction X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with ...
Hayat Dagher, Rachel Tan, Judy Savige
exaly   +2 more sources

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay. [PDF]

Mol Genet Genomic Med, 2020
X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants
Horinouchi T, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Ishimori S, Kaito H, Matsuo M, Iijima K, Nozu K.   +17 more
europepmc   +2 more sources

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +2 more sources

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases. [PDF]

Front Med (Lausanne), 2020
Objectives: X-linked Alport syndrome (XLAS) females are at risk of developing proteinuria and chronic kidney damage (CKD). The aim of this study is to evaluate the genotype-phenotype correlation in this rare population.
Mastrangelo A, Giani M, Groppali E, Castorina P, Soldà G, Robusto M, Fallerini C, Bruttini M, Renieri A, Montini G.   +9 more
europepmc   +2 more sources

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Orphanet Journal of Rare Diseases, 2018
Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed.
Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding   +10 more
doaj   +2 more sources

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome [PDF]

Scientific Reports, 2022
X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5 variants, but little is known of the consequences of missense variants affecting the NC1 domain of the corresponding collagen IV α5 chain. This study examined these variants
Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige   +5 more
doaj   +2 more sources

Genotype-phenotype correlation in X-linked Alport syndrome. [PDF]

Journal of the American Society of Nephrology, 2010
Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phenotype in 681 affected male participants with XLAS from
M. Bekheirnia, B. Reed, M. Gregory, K. Mcfann, A. A. Shamshirsaz, A. Masoumi, R. Schrier   +6 more
semanticscholar   +3 more sources

Mouse model of X-linked Alport syndrome. [PDF]

Journal of the American Society of Nephrology, 2004
X-linked Alport syndrome (XLAS) is a progressive disorder of basement membranes caused by mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen. A mouse model of this disorder was generated by targeting a human nonsense mutation, G5X, to the mouse Col4a5 gene.
M. Rheault, Stefan M Kren, Beth K. Thielen, Hector Mesa, John T. Crosson, William Thomas, Yoshikazu Sado, Clifford E. Kashtan, Yoav Segal   +8 more
semanticscholar   +3 more sources