Results 91 to 100 of about 3,403 (162)

COL4A4 geninde nukleotit yerdeğişimlerinin DNA dizi analizi yöntemi ile saptanması ve alport sendromu ile ilişkisi

, 2014
Alport sendromu, tip IV kollajen yapımında bozuklukla seyreden çocukluk çağında hematüri ile ortaya çıkan genetik bir hastalıktır. COL4A4 genini etkileyen mutasyonlar otozomal resesif, otozomal dominant olarak Alport sendromuna neden olurlar.
Demirel, İlkay
core  

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants

BMC Nephrology
Background Alport syndrome (AS) is the most common inherited glomerular disease among patients with chronic kidney disease. With exome sequencing now widely used in clinical practice, pathogenic variants in Alport-related genes (COL4A3/COL4A4/COL4A5) are
Xiaoyan Zhang, Shi Jin, Xuantong Dai, Chenlin Yao, Ziyi Zhao, Fujun Lin, Yiqin Shi   +6 more
doaj   +1 more source

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

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. [PDF]

, 2014
Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5.
Zou, J, Jiang, G, Shan, J, Yao, Y, Wu, X, Lin, F, Gale, DP, Lu, W, Bian, F   +8 more
core  

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%.
Gezdirici, Alper, ÖZDEMİR ÖZGENTÜRK, Nehir, Dogan, Tunay, Dogan, Mustafa, Keskin, Ece, Gokplnar İli, Ezgi, Yavaş, Cüneyd, Celebi, Evrim, Bender, Onur, Un, Cemal   +9 more
core   +1 more source

Supplementary Material for: Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case report

Alport syndrome (AS) is a hereditary kidney disorder of type IV collagen caused by pathogenic variants in the COL4A3, COL4A4 and COL4A5 genes. Previously several cases of digenic AS, caused by two pathogenic variants in two of the three COL4A genes, have
Geel M. (18269020), Cornelissen E. (18269014), Wetzels J. (18269017), Maas R. (18269011), Rao D. (18269008)   +4 more
core   +1 more source

Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes. [PDF]

Clin Kidney J
Tanaka Y, Horinouchi T, Aoyama S, Kimura Y, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Nozu K.   +13 more
europepmc   +1 more source

Una nueva variante del gen col4a4 (c.1856>a): De un caso de gloméruloesclerosis focal y segmentaria a una familia con síndrome de alport

, 2019
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities.
Karadeniz, Tugba, Saka Guvenc, Merve, Kirbiyik, Ozgur, Ersan, Sibel, Sarikaya, Turker   +4 more
core  

Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report. [PDF]

Mol Genet Metab Rep
Doubinsky A, Marangoni M, Ghisdal L, Ghaleb R, Van Eycken M, Van Meerhaeghe T.   +5 more
europepmc   +1 more source

Trigenic COL4A3 / COL4A4 / COL4A5 Pathogenic Variants in Alport Syndrome:A Case Report

Alport syndrome (AS) is a hereditary kidney disorder of type IV collagen caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Previously several cases of digenic AS, caused by two pathogenic variants in two of the three COL4A genes ...
Van Geel, Michel, Maas, Rutger, Cornelissen, Marlies, Rao, Dipti, Wetzels, Jack   +4 more
core   +1 more source