Results 11 to 20 of about 4,891 (195)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. [PDF]

PLoS ONE, 2017
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen.
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li   +15 more
doaj   +5 more sources

Differential expression of COL4A3 in amyotrophic lateral sclerosis.

, 2022
Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression ...
Shahan Mamoor
openaire   +2 more sources

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome [PDF]

Frontiers in Medicine, 2022
Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations.
Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene   +14 more
doaj   +3 more sources

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Nephrology Dialysis Transplantation, 2021
ABSTRACT Background Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport syndrome and thin basement membrane nephropathy, without a shared definition of these patients within the medical community.
Antonio Mastrangelo, Catarina Madeira, Pierangela Castorina, Marisa Giani, Giovanni Montini   +4 more
openaire   +3 more sources

Analysis of a Familial IgAN Accompanied by COL4A3 Mutation

Journal of Inflammation Research
Sen-Qing Lin,* Jin-Xiu Deng,* Hui Jiang, Shi-Hong Xiang, Wen-Jing Lin, Feng-Qi Qian, Sen-Chao Wu, Fu-Zhen Wang Department of Nephrology, Longyan First Affiliated Hospital of Fujian Medical University, Longyan, People’s Republic of China*These
Lin SQ, Deng JX, Jiang H, Xiang SH, Lin WJ, Qian FQ, Wu SC, Wang FZ   +7 more
doaj   +4 more sources

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene

BMC Nephrology, 2017
Background Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities.
C. Cervera-Acedo, A. Coloma, E. Huarte-Loza, M. Sierra-Carpio, E. Domínguez-Garrido   +4 more
doaj   +2 more sources

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN) [PDF]

Kidney International, 2004
Thin basement membrane nephropathy (TBMN) is often caused by mutations in the COL4A3 and COL4A4 genes.We examined 62 unrelated individuals diagnosed with TBMN by renal biopsy (N= 49, 79%) or a positive family history of hematuria but without a biopsy (N= 13, 21%) for mutations in the COL4A3 gene and the COL4A3/COL4A4 promoter. All 52 exons of COL4A3 as
Yan Yan, Wang, Kesha, Rana, Stephen, Tonna, Tina, Lin, Lydia, Sin, Judy, Savige   +5 more
openaire   +4 more sources

Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations [PDF]

Human Genomics, 2018
Background High-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long time. The most frequent symptoms of
Xiaowei Fan, Lifeng Ma, Zhiying Zhang, Yi Li, Meng Hao, Zhipeng Zhao, Yiduo Zhao, Fang Liu, Lijun Liu, Xingguang Luo, Peng Cai, Yansong Li, Longli Kang   +12 more
doaj   +3 more sources

Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation

Kidney International
COL4A3/A4/A5 mutations have been identified as critical causes of Alport syndrome and other genetic chronic kidney diseases. However, the underlying pathogenesis remains unclear, and specific treatments are lacking. Here, we constructed a transgenic Alport syndrome mouse model by generating a mutation (Col4a3 p.G799R) identified previously from one ...
Shuwen Yu, Xiangchen Gu, Qimin Zheng, Yunzi Liu, Teija Suhas, Wen Du, Lin Xie, Zhengying Fang, Yafei Zhao, Mingxin Yang, Jing Xu, Yimei Wang, Meei-Hua Lin, Xiaoxia Pan, Jeffrey H. Miner, Yuanmeng Jin, Jingyuan Xie   +16 more
openaire   +3 more sources

COL4A3 is degraded in allergic asthma and degradation predicts response to anti-IgE therapy. [PDF]

, 2021
BACKGROUND Asthma is a heterogeneous syndrome substantiating the urgent requirement for endotype-specific biomarkers. Dysbalance of fibrosis and fibrolysis in asthmatic lung tissue leads to reduced levels of the inflammation-protective collagen 4 ...
Bülow Sand, J.M., Karsdal, M.A., Rønnow, S.R., Faiz, A., Lunding, L., Happle, Christine, Sewald, K, ALLIANCE Study Group as part of the German Centre for Lung Research (DZL),, Happle, C., Jonker, M., Jonker, Marnix, Pech, Martin, Leeming, DJ, von Mutius, Erika, Danov, O., Hansen, Gesine, Vermeulen, C., Schaub, B, Oliver, Brian George G., Duhn, J., Bahmer, T, Zissler, Ulrich, Pech, M, Dittrich, A.-M., Bülow Sand, Jannie Marie, van de Berge, Maarten, Karsdal, Morten Asser, Fuchs, O, Vermeulen, Cornelis, Lunding, L, van de Berge, M, van de Berge, M., Dittrich, A-M, Ulrich-Merzenich, G, Schaub, B., Danov, O, Lunding, Lars, Oliver, Brian George G, Hansen, G, Burgess, J.K., Jonker, M, Dittrich, A.M., König, I., Schaub, Bianca, Rabe, Klaus F., Wegmann, M, Rønnow, Sarah Rank, Sewald, K., König, I, Happle, C, Bahmer, Thomas, Sewald, Katherina, Rabe, K.F., Jonker, Marnix; id_orcid, Kopp, MV, Bahmer, T., Rank Rønnow, Sarah, Berge, M. van de, Weckmann, M., Rank Rønnow, S., Duhn, Jannis, Jonker, M.A., van de Berge, Maarten; id_orcid, Danov, Olga, Zissler, U.M., Rabe, KF, Fuchs, O., Fuchs, Oliver, Juergens, U.R., Burgess, Janette Kay; id_orcid, Laumonnier, Y., Wegmann, M., Juergens, Uwe R, Laumonnier, Yves, Leeming, Diana Julie, Weckmann, Markus, Oliver, B.G.G., Oliver, BGG, Ulrich-Merzenich, Gudrun, Kopp, M.V., Rabe, Klaus F, Hansen, G., Dittrich, Anna Maria, Duhn, J, König, Inke, Burgess, JK, Vermeulen, C, Mutius, E. von, von Mutius, E, Ulrich-Merzenich, G., Zissler, U, Sand, JM, Juergens, UR, Sand, J.M., Kopp, Matthias Volkmar, Pech, M., Wegmann, Michael, Juergens, Uwe R., Leeming, D.J., Karsdal, MA, Rank Rønnow, S, Zissler, U., Burgess, Janette Kay, Faiz, Alen, Weckmann, M, Laumonnier, Y, Faiz, A, Dittrich, Anna-Maria, Sand, Jannie Marie   +108 more
core   +4 more sources