Results 51 to 60 of about 4,380 (145)

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

, 2017
Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles in the gastrointestinal, respiratory and female reproductive tracts in addition to renal ...
Morioka, Ichiro, Takeshi Ninchoji, Shogo Minamikawa, Motoko Yanagita, Yanagita, Motoko, Shiro Yamada, Kazumoto Iijima, Yamada, Shiro, Eihiko Takahashi, Yoshimitsu Gotoh, Ichiro Morioka, Hiroshi Kaito, Takahashi, Eihiko, Vorechovsky, Igor, Takahiro Morishita, Shuichiro Fujinaga, Koichi Nakanishi, Minamikawa, Shogo, Fujinaga, Shuichiro, China Nagano, Ninchoji, Takeshi, Igor Vorechovsky, Tomohiko Yamamura, Kandai Nozu, Naoya Morisada, Morisada, Naoya, Morishita, Takahiro, Yamamura, Tomohiko, Kaito, Hiroshi, Nozu, Kandai, Nakanishi, Koichi, Gotoh, Yoshimitsu, Masafumi Oka, Oka, Masafumi, Nagano, China, Iijima, Kazumoto   +35 more
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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families [PDF]

, 2018
We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport ...
Ghandour, Mohamedanwar, Atwal, Paldeep S., Mohammad, Ahmed N., Aslam, Nabeel, Agarwal, Anjali, Hines, Stephanie L.   +5 more
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毛囊COL4A5基因扩增的方法学研究

Zhongguo shiyan zhenduanxue, 2007
目的探讨毛囊基因组在COL4A5基因扩增中的应用。方法对32例慢性肾病患者和12例健康体检者进行毛囊和全血COL4A5基因扩增,产物测序,比较两者扩增产物,并将测序结果与NCBI公布的标准序列进行比对。结果毛囊与全血COL4A5基因扩增产物长短一致,测序结果与NCBI公布的COL4A5基因标准序列完全相符,且扩增效率无显著性差异（P>0.05）。结论毛囊COL4A5基因扩增效果与全血等同。
刘奇才, 程祖建, 范海明, 徐美华   +3 more
doaj  

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

Frontiers in Genetics
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.
Lei Liang, Haotian Wu, Jianrong Zhao
doaj   +1 more source

Genotype and Outcome After Kidney Transplantation in Alport Syndrome

Kidney International Reports, 2018
Introduction: Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS.
Valentine Gillion, Karin Dahan, Jean-Pierre Cosyns, Pascale Hilbert, Michel Jadoul, Eric Goffin, Nathalie Godefroid, Martine De Meyer, Michel Mourad, Yves Pirson, Nada Kanaan   +10 more
doaj   +1 more source

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

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   +1 more source

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

, 1994
Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.
BALLABIO A., GALLI L, GIANI M, BASSI M. T, RENIERI A, DE MARCHI M., ZHOU J, BALLABIO, ANDREA, GIANI M., DE MARCHI M, GALLI L., RENIERI, ALESSANDRA, ZHOU J., BASSI M.T.   +13 more
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Table_3_A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.xlsx

, 2023
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Shan Duan (53493), Jia-xun Zhang (14758354), Ming-chao Zhang (14758360), Ying-xia Cui (14758357), Xiao-hang Chen (14758363), Cai-hong Zeng (14758366), Pei-ning Li (14758369), Xiao-jun Li (4333), Wei-qing Wu (14758351)   +8 more
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A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome

Якутский медицинский журнал
Alport syndrome is a hereditary progressive kidney disease associated with sensorineural hearing loss and vision abnormalities, which is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes encoding the α3, α4, and α5 type IV collagen chains. This
A. M. Cherdonova, N. A. Barashkov, F. M. Teryutin, V. G. Pshennikova, T. V. Borisova, A. A. Nikanorova, A. V. Solovyov, G. P. Romanov, S. A. Fedorova   +8 more
doaj   +1 more source

COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome [PDF]

, 1993
COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Mutations affecting the COL4A5 gene encoding the α5 chain of type IV collagen, are involved in the pathogenesis of X-linked Alport syndrome.
Frei, Ulrich, Netzer, Kai-Olaf, Zhou, Jing, Pullig, Oliver, Weber, Manfred, Tryggvason, Karl   +5 more
core   +1 more source