Zobrazeno 1 - 10
of 674
pro vyhledávání: '"COL4A5"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-13 (2024)
Abstract Background Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical pictu
Externí odkaz:
https://doaj.org/article/283f0dd7decc4dab9d37f2359fa94223
Publikováno v:
International Journal of Nephrology and Renovascular Disease, Vol Volume 17, Pp 167-174 (2024)
Yang Li,1 Xue Yan,2 Zhen Luo,1 Xianxian Fu,1 Zhongju Li,1 Qiuzhu Xu,3 Juanjuan Chen,1 Jingmin Yang,2,4,5 Daru Lu4,5 1Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republ
Externí odkaz:
https://doaj.org/article/5475199c1894485584247425931c747a
Autor:
Jian-Hui Zhang, Jie Liu, Dan-Dan Ruan, Qian Chen, Jie Yang, Min Wu, Hong-Ping Yu, Li-Sheng Liao, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
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 domi
Externí odkaz:
https://doaj.org/article/1a625cba3a8f421a97b03fb58ec85e16
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3–5 chains of t
Externí odkaz:
https://doaj.org/article/85da097f41d2440e8bff480f101f4d18
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Alport Syndrome (AS) is a genetic kidney disorder characterized by progressive hearing loss and atypical eye symptoms, resulting in a poor prognosis and lack of effective targeted therapy. The primary mode of inheritance is X-linked dominant (XLAS) d
Externí odkaz:
https://doaj.org/article/ec426eaa17d94511b7954d16344414fd
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Alport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal
Externí odkaz:
https://doaj.org/article/2c293a15e31946d7b1c395d987158377
Autor:
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process
Externí odkaz:
https://doaj.org/article/e5e85b9bb18747efb15524a019e0b621
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease, affecting at least one in 5000 individuals worldwide. AS is caused by COL4A3, COL4A4, and COL4
Externí odkaz:
https://doaj.org/article/7af97a29acb04391b2599069def5f740
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-14 (2023)
Abstract Background Alport syndrome (AS; OMIM#308,940) is a hereditary kidney disease that progresses over time and is distinguished by hearing loss and ocular irregularities. The syndrome has three subtypes, namely X-linked (XL; OMIM#301,050), autos
Externí odkaz:
https://doaj.org/article/44a4402707834b1dbd54639e27913b21
Autor:
Daisuke Takahashi, Kan Katayama, Yoshinobu Iyoda, Ayumi Fukumori, Kayo Tsujimoto, Masahiro Yamawaki, Fumika Tanaka, Ryosuke Saiki, Keiko Oda, Yasuo Suzuki, Tomohiro Murata, Yoshinaga Okugawa, Kaoru Dohi
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Most male X-linked Alport syndrome patients with COL4A5 nonsense mutations experience end-stage kidney failure by 30 years old. Although there is no definition of high-flow arteriovenous fistula, access blood flows greater than 2000 mL/min might pred
Externí odkaz:
https://doaj.org/article/94e7b2ef08554d22a75e841494502b91