Results 1 to 10 of about 23,214 (166)

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome [PDF]

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +6 more sources

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome [PDF]

Frontiers in Genetics
BackgroundAlport syndrome (AS) is a common cause of end-stage renal disease (ESRD) with various clinical symptoms and incomplete manifestation. Patients with AS and other renal disorders are often misdiagnosed. This study reported three X-linked dominant
Jian-Hui Zhang, Jian-Hui Zhang, Jie Liu, Jie Liu, Dan-Dan Ruan, Dan-Dan Ruan, Qian Chen, Qian Chen, Jie Yang, Jie Yang, Min Wu, Min Wu, Hong-Ping Yu, Hong-Ping Yu, Li-Sheng Liao, Li-Sheng Liao, Xiao-Ling Zheng, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang, Li Zhang   +20 more
doaj   +5 more sources

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency [PDF]

Scientific Reports, 2021
Alport syndrome is an inherited chronic human kidney disease, characterized by glomerular basement membrane abnormalities. This disease is caused by mutations in COL4A3, COL4A4, or COL4A5 gene.
Masumi Namba, Tomoe Kobayashi, Mayumi Kohno, Takayuki Koyano, Takuo Hirose, Masaki Fukushima, Makoto Matsuyama   +6 more
doaj   +7 more sources

Sporadic Case of Heterozygous X-linked Alport Syndrome [PDF]

Glomerular Diseases, 2023
Background: Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes.
Jonathan Zuckerman, Rachana Srivastava
doaj   +6 more sources

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants. [PDF]

Kidney Int Rep
Introduction Alport syndrome (AS) is an inherited kidney disease with significant clinical heterogeneity. Prognosis prediction and risk assessment are important to assist patient care.
Zeng M, Di H, Ding J, Zhang Y, Xu H, Xie J, Mao J, Zhang A, Li G, Zhang J, Gao E, Liang D, Wang Q, Wang L, An Y, Zheng C, Liu Z.   +16 more
europepmc   +3 more sources

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome [PDF]

Frontiers in Pediatrics
Diagnosing Alport syndrome can be particularly challenging when targeted sequencing methods, such as panel-based next-generation sequencing (NGS), fail to identify pathogenic variants, especially deep intronic mutations.
Hoon Seok Kim, Hoon Seok Kim, Myungshin Kim, Myungshin Kim, Jin-Soon Suh, Yeonhee Lee   +5 more
doaj   +3 more sources

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome. [PDF]

Front Med (Lausanne), 2022
X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Yamamura T, Horinouchi T, Aoto Y, Lennon R, Nozu K.   +4 more
europepmc   +6 more sources

Hydroxychloroquine Ameliorates Hematuria in Children with X-Linked Alport Syndrome: Retrospective Case Series Study [PDF]

Pharmacogenomics and Personalized Medicine, 2023
Lei Sun, Xin-Yu Kuang, Jing Zhang, Wen-Yan Huang Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People’s Republic of ChinaCorrespondence: Wen-Yan Huang, Email ...
Sun L, Kuang XY, Zhang J, Huang WY
doaj   +3 more sources

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene [PDF]

Scientific Reports
Alport syndrome is a hereditary kidney disease with significant variations in onset and prognosis. While 80–85% of cases are due to pathogenic variants in the COL4A5 gene, there is a notable lack of mouse models with Col4a5 mutations for basic research ...
Zhitao Ye, Di Lu, Shumin Zhou, Guanyu Li, Lili Long, Jiayi Zhang, Ming Liu, Xia Gao   +7 more
doaj   +3 more sources

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age [PDF]

Frontiers in Medicine, 2022
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and ...
Roman Günthner, Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Matthias C. Braunisch, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Jasmina Ćomić, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele   +29 more
doaj   +3 more sources