Results 111 to 120 of about 4,891 (195)

COL4A3 mutation is an independent risk factor for poor prognosis in

, 2020
Background Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children ...
Ozdemir, G, Gulhan, B, Atayar, E, Saygili, S, Soylemezoglu, O, Ozcakar, ZB, Eroglu, FK, Candan, C, Demir, BK, Soylu, A, Yuksel, S, Alpay, H, Agbas, A, Duzova, A, Hayran, M, Ozaltin, F, Topaloglu, R   +16 more
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Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants

, 2021
\ua9 2021 John Wiley & Sons Ltd/University College LondonAlport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear and eye, and represents a leading cause of monogenic kidney disease.
Sayer JA, Tellez J, Gale DP, Mohamed M, Olinger E, Bergmann C   +5 more
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Familial Kidney Disease Phenocopying Hypertensive Nephropathy

Glomerular Diseases
Introduction: Familial kidney disease is common in Cyprus and previous studies have found that the majority of families have mutations in Alport syndrome genes COL4A3/4/5.
Fezile Ozdemir, D. Deren Oygar, Ahmet Behlul, Salahi Ataç, Simge Bardak, Meral Yükseliş, Gregory Papagregoriou, Apostolos Malatras, Daniel P. Gale, Guy H. Neild, Constantinos Deltas, Cemal Gurkan   +11 more
doaj   +1 more source

COL4A3 Gene [PDF]

, 2020
openaire   +1 more source

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and ...
Riedhammer, Korbinian M;Simmendinger, Hannes;Tasic, Velibor;Putnik, Jovana;Abazi-Emini, Nora;Stajic, Natasa;Berutti, Riccardo;Weidenbusch, Marc;Patzer, Ludwig;Lungu, Adrian;Milosevski-Lomic, Gordana;Günthner, Roman;Braunisch, Matthias C;Ćomić, Jasmina;Hoefele, Julia
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Characterization of the Ocular Phenotype in a Col4a3 Knockout Mouse Model of Alport Syndrome

Investigative Ophthalmology & Visual Science
Alport syndrome (AS) is a genetic condition caused by a dysfunctional collagen (IV) α3α4α5 heterotrimer, leading to basement membrane instability and, ultimately, abnormalities in the kidney, inner ear, and eyes. This study aimed to characterize ocular pathology of AS by focusing on inflammatory and fibrotic markers.Col4a3tm1Dec knockout (KO) mice eyes
Belamkar, Ameya, Luo, Qianyi, Mahajan, Neha, Abhyankar, Surabhi, Jones, Bryce A., Sodhi, Rupinder Kaur, Pattabiraman, Padmanabhan P., Levi, Moshe, Bhatwadekar, Ashay D.   +8 more
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Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants

, 2022
Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear and eye, and represents a leading cause of monogenic kidney disease.
Bergmann, C, Olinger, E, Sayer, JA, Gale, DP, Tellez, J, Mohamed, M   +5 more
core  

COL4A3 wt Allele [PDF]

, 2020
openaire   +1 more source

In Silico Functional Assessment of COL4A3, COL4A4, and COL4A5 SNPs in Alport Syndrome

Aim: Alport syndrome is a rare genetic disorder characterized by hematuria, proteinuria, progressive renal failure, and, in some cases, hearing and visual impairment.
Beyza Rümeysa Erginal Geç, Mesut Karahan, Tuğba Kaman   +2 more
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COL4A3 Gene Product [PDF]

, 2020
openaire   +1 more source