Original Research
Published on 21 Mar 2022
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2022.838983
- 5,095 views
- 13 citations
17 articles related to "Col4a3"
Articles
Case Report
Published on 29 Mar 2022
Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.839212
- 3,312 views
Original Research
Published on 03 Oct 2022
A tunable physiomimetic stretch system evaluated with precision cut lung slices and recellularized human lung scaffolds
in Tissue Engineering and Regenerative Medicine
Frontiers in Bioengineering and Biotechnology
doi 10.3389/fbioe.2022.995460
- 5,494 views
- 12 citations
Case Report
Published on 08 Jan 2025
Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient
in Pediatric Nephrology
Frontiers in Pediatrics
doi 10.3389/fped.2024.1518553
- 3,097 views
- 1 citation
Original Research
Published on 12 Jun 2018
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis
in Pediatric Nephrology
Frontiers in Pediatrics
doi 10.3389/fped.2018.00171
- 6,160 views
- 20 citations
Case Report
Published on 21 Dec 2023
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2023.1281049
- 3,533 views
- 3 citations
Original Research
Published on 28 Mar 2022
Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2022.859521
- 5,637 views
- 4 citations
Review
Published on 06 May 2022
Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2022.865034
- 10,377 views
- 49 citations
Case Report
Published on 11 Nov 2025
Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy
in Cardiovascular Genetics and Systems Medicine
Frontiers in Cardiovascular Medicine
doi 10.3389/fcvm.2025.1668842
- 1,105 views
Case Report
Published on 12 Jul 2024
Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1426806
- 2,905 views
- 1 citation
Original Research
Published on 25 Apr 2025
Prognostic significance and multivariate modeling of COL4A family genes and HMGA2 in glioma
in Experimental Pharmacology and Drug Discovery
Frontiers in Pharmacology
doi 10.3389/fphar.2025.1591932
- 2,452 views
- 1 citation
Original Research
Published on 12 Sep 2025
Whole-exome sequencing in pediatric patients with glomerulonephritis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1611340
- 2,092 views
Case Report
Published on 02 Jul 2019
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2019.00628
- 6,278 views
- 9 citations
Original Research
Published on 27 Feb 2023
Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1059322
- 3,301 views
- 9 citations
Original Research
Published on 08 Feb 2023
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2023.1096869
- 4,569 views
- 5 citations
Original Research
Published on 23 Nov 2020
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2020.580376
- 7,940 views
- 18 citations