Results 91 to 100 of about 4,891 (195)

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, Volume 299, Issue 5, Page 587-603, May 2026.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression

Investigative Opthalmology & Visual Science, 2016
To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs.Putative E2 box motifs were identified by in silico analysis within the promoter region of ...
Chung, Duk-Won D., Frausto, Ricardo F., Chiu, Stephan, Lin, Benjamin R., Aldave, Anthony J.   +4 more
openaire   +2 more sources

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

BMC Medical Genomics
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.
Duocai Wang, Meize Pan, Hang Li, Minchun Li, Ping Li, Fu Xiong, Hongbo Xiao   +6 more
doaj   +1 more source

Familial hematuria: A review

Medicina, 2017
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations.
Pavlína Plevová, Josef Gut, Jan Janda
doaj   +1 more source

#2438 ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)

Nephrology Dialysis Transplantation
Abstract Background and Aims Familial hematuria diseases are a heterogeneous group of monogenic conditions caused by mutations in one of the collagen IV genes: COL4A3 (2q36.3), COL4A4 (2q36.3), and COL4A5 (Xq22.3) that are expressed in the glomerular basement membranes (GBM) and are responsible for ...
Carlotta Caprara, Valentina Corradi, Matteo Rigato, Barbara Mancini, Nenzi Marzano, Omar Perbellini, Fiorella Gastaldon, Claudio Ronco, Monica Zanella   +8 more
openaire   +1 more source

Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome [PDF]

, 2003
Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome.Background Alport syndrome (AS) is a common hereditary cause of end-stage renal failure in adolescence due to defects in type IV ...
Schulze-Lohoff, E., Smyth, N., Schulze-Lohoff, Eckhard, Kuck, Jeannine, Gross, Oliver, Beirowski, B., Gross, O., Beirowski, Bogdan, Reiner, Michael, Koepke, M.L., Smyth, Neil, Kuck, J., Reiner, M., Weber, M., Koepke, Marie-Louise, Addicks, K., Addicks, Klaus, Weber, Manfred   +17 more
core   +1 more source

Alport’s Syndrome

Turkish Journal of Nephrology, 2019
Alport’s syndrome is a hereditary kidney disease, frequently associated with hearing loss and ocular abnormalities. Type IV collagen is the main constituent of the basement membranes.
Tayfun AKALIN, M. Deniz AYLI, Ekrem ABAYLI   +2 more
doaj  

Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.

, 2016
Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.
Hee Gyung Kang (3120111), Mato Nagel (6470), Hae Il Cheong (191547), Eujin Park (3120096), Jens Michael Hertz (2636689), Judith Savige (3120114), Dongmao Wang (3120108), Anton Persikov (3120117), Carmen Torres-Fernandez (3120120), Roser Torra (332940), Frances Flinter (3120102), Pascale Hilbert (3120105), Lev Shagam (3120093), Mads Thomassen (395200), Helen Storey (3120099), Elisabet Ars (129410), Yanyan Wang (329749)   +16 more
core   +1 more source

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Scientific Reports
Alport syndrome is a common monogenic kidney disease resulting from pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The estimated global population prevalence is one in 106 individuals for autosomal dominant (AD) and one in 2,320 for sex-linked ...
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, Alvin Yu-Jin Ng, Jun Li Ng, Hui-Lin Chin, Weng Khong Lim, Gek Cher Chan, See Cheng Yeo, Esther Hui Min Leow, Benedict Junrong Yan, Kar Hui Ng, Yaochun Zhang   +12 more
doaj   +1 more source

Characterization of Ocular Morphology in Col4a3^−/− Mice as a Murine Model for Alport Syndrome

Translational Vision Science & Technology
The purpose of this study was to investigate the ocular morphological characteristics of Col4a3-/- mice as a model of Alport syndrome (AS) and the potential pathogenesis.The expression of collagen IV at 8, 12, and 21 weeks of age was evaluated by immunohistochemistry in wild-type (WT) and Col4a3-/- mice.
Wang, Yuwei, Zhu, Ruilin, Zhao, Liang, Wang, Fang, Zhang, Yanqin, Liu, Shiguang, Ding, Jie, Yang, Liu   +7 more
openaire   +2 more sources