Disease: Alport syndrome
- <em>In Chronic Kidney Disease Altered Cardiac</em> <em>Metabolism</em> <em>Precedes Cardiac Hypertrophy</em>
- A case of crescentic glomerulonephritis with exacerbation of pre-existing IgA nephropathy after COVID-19
- A case of X-linked Alport syndrome with esophageal leiomyomatosis
- A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation
- A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives
- A Deeper Insight into <em>COL4A3</em>, <em>COL4A4</em>, and <em>COL4A5</em> Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
- A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
- A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity
- A founder <em>COL4A3</em> pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
- A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
- A Systematic Review of Pediatric Dialysis in Asia: Unveiling Demographic Trends, Clinical Representation, and Outcomes
- Adenine crosses the biomarker bridge: from 'omics to treatment in diabetic kidney disease
- Alport Syndrome
- Alport syndrome and Alport kidney diseases - elucidating the disease spectrum
- Alport Syndrome: A Comprehensive Review
- Alport syndrome: A puzzling case of thrombocytopenia and giant unusual platelets in blood smear
- Amniotic membrane grafting for a case of bilateral giant full-thickness macular hole in Alport syndrome after cataract surgery
- An Adolescent Boy With Hypoxia, Microscopic Hematuria, and Hypertension
- An unusual macroscopic aspect of a kidney biopsy: a nephrology quiz
- Ascending aortic aneurysm and histopathology in Alport syndrome: a case report
- Autosomal dominant chronic tubulointerstitial nephropathy: do not forget amyloidosis
- Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family
- Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy
- Changes in spectrum of biopsy-proven kidney diseases within decade: an analysis based on 10 199 cases from South China
- Classic anterior lenticonus in Alport syndrome
- Clinical and genetic analysis of a child with X-linked dominant Alport syndrome
- Clinical Significance of the Cystic Phenotype in Alport Syndrome
- Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center
- Co-occurring Usher syndrome Type 1 and Renal Failure
- Collagen IV of basement membranes: I. Origin and diversification of COL4 genes enabling animal evolution
- Collagen IV of basement membranes: II. Emergence of collagen IV<sup>α345</sup> enabled the assembly of a compact GBM as an ultrafilter in mammalian kidneys
- Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: a case report
- Complement-mediated thrombotic microangiopathy on a background of Alport syndrome: A case report
- Congenital anomalies of lens shape
- Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
- Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome
- Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial
- Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant
- Farnesoid X receptor prevents neutrophil extracellular traps via reduced sphingosine-1-phosphate in chronic kidney disease
- FGF23-related hypophosphatemic rickets preceding the onset of systemic lupus erythematosus: A juvenile case
- Follow-Up of Bilateral Iridoschisis in a Patient With Alport Syndrome
- Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females
- Genetic analysis and in vitro validation of a case of Alport syndrome due to a splicing variant of COL4A5 gene
- Genetic diagnosis of Alport syndrome in 16 Chinese families
- Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
- Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome
- Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene
- Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study
- Genetics, X-Linked Inheritance
- Genomics in the kidney clinic
- High-flow arteriovenous fistula in X-linked Alport syndrome: a case report
- Human umbilical cord mesenchymal stem cell therapy for renal dysfunction in Alport syndrome: protocol for an open-label, single-arm trial in China
- IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report
- In chronic kidney disease altered cardiac metabolism precedes cardiac hypertrophy
- Increased prevalence of Kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants
- iPSC-derived type IV collagen alpha5-expressing kidney organoids model Alport syndrome
- iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
- Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
- Kidney failure secondary to hereditary xanthinuria due to a homozygous deletion of the XDH gene, in the absence of overt kidney stone disease
- Lenticonus
- Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
- Macrohematuria in children and adolescents
- More than four decades of graft survival in pediatric kidney transplant recipients
- Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era
- Multimodal Imaging in Unusual Alport Retinopathy
- Nicotinamide riboside activates renal metabolism and protects the kidney in a model of Alport syndrome
- Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case report
- Novel Digenic Variants in <em>COL4A4</em> and <em>COL4A5</em> Causing X-Linked Alport Syndrome: A Case Report
- Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report
- NRF2 in kidney physiology and disease
- Ocular Manifestations of Alport Syndrome: Report and Comparison of Two Cases
- PDGF-D Is Dispensable for the Development and Progression of Murine Alport Syndrome
- Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
- Precision diagnosis and therapeutic intervention of Alport syndrome
- Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports
- Protective Effects of Selective Mineralocorticoid Receptor Antagonist in Alport Syndrome on Top of Renin-Angiotensin-System/ Sodium-Glucose Transporter 2 Blockade
- Quantitative assessment of glomerular basement membrane collagen IV alpha chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants
- Ramipril therapy in integrin alpha1-null, autosomal recessive Alport mice triples lifespan: mechanistic clues from RNA-seq analysis
- Ramipril therapy in integrin α1-null, autosomal recessive Alport mice triples lifespan: mechanistic clues from RNA-seq analysis
- Re: Zaffalon et al.: Anterior segment and macular OCT in Alport syndrome (Ophthalmology. 2023;130:515)
- Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling
- Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
- Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings
- Retinal Detachment After Macular Hole Repair in Alport Syndrome
- Role of MCP-1 as an inflammatory biomarker in nephropathy
- Sealed Unilateral Full-Thickness Macular Hole with Amniotic Membrane Graft in a Patient with Alport Syndrome: A Case Report
- Spectrum and Distribution of Biopsy-proven Kidney Diseases: A 12-year Survey of a Single Center in Iran
- Sporadic Case of Heterozygous X-Linked Alport Syndrome
- The Phenotypic Spectrum of <em>COL4A3</em> Heterozygotes
- The spatially resolved transcriptome signatures of glomeruli in chronic kidney disease
- Thin Basement Membrane Nephropathy (Benign Familial Hematuria)
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay
- Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case report
- Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome
- Urinary Protein-Biomarkers Reliably Indicate Very Early Kidney Damage in Children With Alport Syndrome Independently of Albuminuria and Inflammation
- Urine-derived podocytes from steroid resistant nephrotic syndrome patients as a model for renal-progenitor derived extracellular vesicles effect and drug screening
- Vitreoretinal Abnormalities during Macular Hole Repair in Alport Syndrome
- What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management
- Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria
- X-linked Alport syndrome presenting in mother and son with the same unique histopathological features