Results 141 to 150 of about 3,403 (162)

Case Report: Elderly anti-GBM antibody disease with diffuse non-hereditary glomerular basement membrane thinning of uncertain etiology. [PDF]

Front Med (Lausanne)
Yu P, Yang W, Weiwei Z, Song Y, Zhong Y, Li Z, Chen Y, Sun W, Zhao J.   +8 more
europepmc   +1 more source

Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report. [PDF]

Mol Cytogenet
Yang D, Chen H, Fan Z, Fan J.
europepmc   +1 more source

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases. [PDF]

Life (Basel)
Baris S, Terali K, Bozlak S, Yilmaz N, Yilmaz HI, Yavas C, Eroz R, Hazaloglu M, Ozen K, Gezdirici A, Dogan M, Kilic H, Demir S, Baris I.   +13 more
europepmc   +1 more source

Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities

Kidney International Reports, 2022
The term "autosomal dominant (AD) Alport syndrome" is often used to describe the condition associated with heterozygous pathogenic COL4A3 or COL4A4 variants and has largely replaced "thin basement membrane nephropathy (TBMN)." AD Alport syndrome implies ...
Judy Savige
exaly   +2 more sources

Polymorphism Analysis of COL4A3 and COL4A4 Genes in Greek Patients with Keratoconus

Ophthalmic Genetics, 2014
Background: In this study, we conducted the genotyping of D326Y in COL4A3 and M1327V, as well as F1644F in COL4A4 polymorphisms, in a case-control sample panel of Greek origin population.
Irini Chatziralli, Maria Gazouli, Marilita M Moschos   +2 more
exaly   +2 more sources

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. [PDF]

Nephrology Dialysis Transplantation, 2009
Background. Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies.
Marco Pennesi, Rosangela Artuso, Alessandra Renieri   +2 more
exaly   +2 more sources

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

Clinical Genetics
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 ...
Velibor Tasic, Korbinian Maria Riedhammer, Julia Hoefele   +2 more
exaly   +2 more sources

Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome [PDF]

American Journal of Human Genetics, 1998
SummaryAutosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the α3 and α4 type IV
Laurence Heidet, Marie-Claire Gubler, Corinne Antignac   +2 more
exaly   +2 more sources

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families [PDF]

International Journal of Molecular Sciences
Variants in COL4A3 and COL4A4 cause autosomal dominant and recessive Alport syndrome, yet data on their distribution and clinical expression in different populations remain limited.
Arvydas Laurinavicius, Marius Miglinas, Vija Vainutienė   +2 more
exaly   +3 more sources