Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Extracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.

'Missing' disease-causing variants in Alport syndrome.

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

Alport syndrome complicated with IgA nephropathy: a case report.

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.

The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease.

Minnelide ameliorates Col4a5+/- mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress.

Screening for genetic kidney diseases in a dialysis cohort via exome sequencing.

Glomerular basement membrane structural integrity dictates trans-tissue deposition of laminin in the kidney.

Pediatric Conditions for Which Skin Biopsies of Clinically Normal Skin Have Diagnostic Yield: A Review for the Pediatric Dermatologist.

Not So Normal Skin: A Review of the "Random" Skin Biopsy.

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report.

Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.

WNK1 Kinase Activity Is Required for the Functional Maintenance of Podocyte Structure.

Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.

mRNA Therapy for Alport Syndrome.

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing.

Disease-modifying effects of iron deficiency in mouse models of chronic renal failure.

Intravenous trimethoprim-sulfamethoxazole desensitization as a therapeutic strategy for late-onset Pneumocystis jirovecii pneumonia in a kidney transplant recipient: a case report.

Redefining Alport syndrome in the era of genomic medicine: time for a unified, genotype-driven nomenclature.

TRPC6 inhibition for the treatment of focal segmental glomerulosclerosis: a randomised, placebo-controlled, phase 2 trial of BI 764198.

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

Modulation of the Apolipoprotein M/S1PR4 Pathway Reduces Podocyte Lipid Overload in Alport Syndrome via Distinct Autophagy and Efflux Mechanisms.

When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome.

Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.

Retinal and microvascular alterations in Alport syndrome: a multimodal imaging study.

Tips of family history taking in diagnosing Alport syndrome: a report of six cases.

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

Bilateral giant macular holes in a patient with Alport syndrome.

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.

Dapagliflozin Reduces Kidney Inflammation in Alport Syndrome by Inhibiting the Stimulator of Interferon Genes Pathway in Renal Tubular Epithelial Cells.

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.

A Western Diet High in Phosphate Primes the Development of the CKD-Mineral Bone Disorder in an Alport Syndrome Model.

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Urine Screening for Early Diagnosis of Young Individuals With Alport Syndrome: A Call for Action.

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

A novel COL4A5 splicing variant in alport syndrome presenting with extreme myopia.

Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.

Increased in vivo transduction of AAV-9 cargo in Alport podocytes.

Electron Microscopy in Renal Biopsy Interpretation: When and Why It Still Matters.

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Alport Syndrome: A Case of Delayed Diagnosis Through Genetic Testing.

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy.

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome.

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.

High adherence to angiotensin-converting enzyme inhibitor in children and adolescents with Alport syndrome: objective verification using liquid chromatography-mass spectrometry.

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man.

From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

Dapagliflozin with losartan but not olmesartan has an add-on protective effect in experimental Alport syndrome.

Bilateral Macular Holes with Depleted Internal Limiting Membrane in Alport Syndrome Patient: A Case Report.

Kidney Cysts in Alport Syndrome: Illustrative Cases, but Misleading Conclusions.

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Kidney organoids in translational research: disease modeling, drug discovery, and unresolved challenges.

Case report: Surgical and clinical results in bilateral lenticonus due to Alport syndrome.

Gene Therapies: Any Merit in Nephrology?

Mouse Alport podocytes are susceptible to AAV9 transduction in vivo.

Corrigendum to "Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome" eBioMedicine, Volume 63, January 2021, 103162.

Cochlear Implantation in Alport Syndrome: A Novel Case Series.

From Data to Drug: The Translational Impact of RaDaR, the UK National Registry of Rare Kidney Diseases.

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families.

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.

Nephrotic syndrome as the first symptom in Alport syndrome children.

Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report.

Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in COL4A3 and COL4A4.

Nutcracker syndrome in an Alport family: a tricky case.

Severe Clinical Phenotype in Alport Syndrome Due to 2 COL4A4 Exon-Skipping Events.

Systematic metabolomic study on the plasma and urine of a mouse model of Alport syndrome.

Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.

Effect of 2-Hydroxypropyl-γ-cyclodextrin on Renal Inflammation in Alport Mouse Model.

Whole-exome sequencing in pediatric patients with glomerulonephritis.

From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing.

Unfolding the potential-chemical chaperones in Alport syndrome.

Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.

Treatment Approaches for Alport Syndrome.

CRISPR and gene editing for kidney diseases: where are we?

A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN.

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.

High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.

Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report.

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome.

Pediatric Renal Transplantation: A 10-Year Single-Center Experience.

[A case report of Alport syndrome a denovo mosaic variation in the COL4A5 gene].

How does LAMB2 contribute to kidney disease? Insights from a pediatric case.

Lipidomics Unveils Critical Lipid Pathway Shifts in Alport Syndrome.

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

Gene editing for collagen disorders: current advances and future perspectives.

Dotinurad, a Novel Urate Reabsorption Inhibitor, Prolongs Survival in Alport Mice.

Alpha-dystroglycan receptor signaling likely influences basement membrane laminin α2 mediated pathology in the stria vascularis of Alport mice.

Co-localization of IgG with nephrin in immune-mediated idiopathic nephrotic syndrome.

Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing.

RNA therapeutics in kidney diseases: prospects and current status.

Ectopic laminin α2 accumulation in the glomerular basement membrane exacerbates podocyte injury in Alport syndrome.

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Collagen IV in Gould syndrome and Alport syndrome.

Successful management of a giant macular hole in Alport syndrome using autologous retinal translation as an initial procedure.

Extracellular Matrix: Alport Syndrome.

Renal Single-Cell RNA Sequencing and Digital Cytometry in Dogs with X-Linked Hereditary Nephropathy.

Improving the Quality of Two Lives by Treating Obesity.

Novel mitophagy inducer TJ0113 alleviates pulmonary inflammation during acute lung injury.

Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease and Alport Syndrome: Two Familial Cases Illustrating Diagnostic Challenges.

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.

Educating the Next-Generation Expert in Nephrology Genetics.

Stair-Case/Honeycomb Maculopathy in Alport Syndrome: A Case Report.

How to Suspect and Approach Patients With Genetic Glomerular Disease.

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

[Anterior lenticonus in Alport Syndrome].

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria.

Urinary DKK3 in Alport syndrome: early marker or epiphenomenon?

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.

Alport syndrome complicated with steroid-sensitive nephrotic syndrome: a case report.

Progressive Renal Dysfunction in Autosomal-dominant Alport Syndrome Co-occurring with C1q Nephropathy.

Efficacy of Nrf2 activation in a proteinuric Alport syndrome mouse model.

Targeted incorporation of collagen IV to the basement membrane: A step forward for developing extracellular protein therapies.

The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree.

WNK1 kinase activity is required for maintenance of podocyte foot process structure.

Dapagliflozin, in addition to ramipril, ameliorates kidney disease progression in mice with Alport syndrome.

Familial Kidney Disease Phenocopying Hypertensive Nephropathy.

The First Observation and Diagnosis of Nail-Patella Syndrome Using LV-SEM: GBM Abnormalities Mimicking Alport Syndrome.

Prospective Cohort Study in Alport Syndrome Patients Under Standard Therapy.

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.

Relationship between clinical and pathologic findings and the presence of genetic variants in patients with steroid-resistant nephrotic syndrome.

Proteinuria in Alport Syndrome: Treatment With Sodium-Glucose Co-Transporter-2 (SGLT2) Inhibitors.

The enzyme SMPDL3b in podocytes decouples proteinuria from chronic kidney disease progression in experimental Alport Syndrome.

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report.

A retrospective study of kidney disease in Alport syndrome during and after pregnancy.

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene.

Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.

[New Genetic Variants Involved in the Pathogenesis of Autosomal Dominant Alport Syndrome: A Familial Case Report].

[Renal Lipid Metabolism in Collagenopathies].

Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.

Clinical differences between female monozygotic twins with X-linked Alport syndrome with somatic mosaicism.

Amniotic membrane grafting in the prevention of long-term retinal detachment secondary to giant full-thickness macular hole in Alport syndrome.

Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease.

Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.

Are we ACE-ing the early treatment of Alport syndrome?

Thiazides as an additional antiproteinuric treatment in young patients with Alport syndrome.

Corrigendum to A triad of retinal signs in Alport syndrome: The 'stair-case' fovea, choroidal thinning and peripheral schisis.

Tacrolimus-Associated Leukoencephalopathy Following a Living Donor Kidney Transplant for Autosomal Recessive Alport Syndrome: A Case Report.

Collagen IV of basement membranes: I. Origin and diversification of COL4 genes enabling metazoan multicellularity, evolution, and adaptation.

Alport Syndrome Presenting as Incidental Finding of Proteinuria on Pre-Employment Checkup: A Case Report.

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients.

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.

The Role of Vitamin D in Rare Diseases-A Clinical Review.

The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.

Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel.

Keap1-independent Nrf2 regulation: A novel therapeutic target for treating kidney disease.

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice.

Oral Ketone β -Hydroxybutyrate Supplement Retards the Loss of GFR in Alport Mice on Dual Renin-Angiotensin System/Sodium-Glucose Transporter 2 Blockade.

NAD+ prevents chronic kidney disease by activating renal tubular metabolism.

Identification of novel COL4A5 variants and prenatal diagnosis in three large families.

SGLT2 inhibitors in CKD: are they really effective in all patients?

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.

Incidence of Leading Causes of Pediatric CKD Using Electronic Health Record-Driven Computable Phenotype.

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Candidate Genetic Modifiers in Alport Syndrome: A Case Series.

A CASE REPORT OF TEMPORAL MACULAR THINNING ASSOCIATED WITH ALPORT SYNDROME.

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome.

Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting.

[Alport syndrome-the most common hereditary glomerular kidney disease].

Renal Phenotype Variations among Families with Autosomal Alport Syndrome: Potential Role of Modifier Genes.

Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria.

Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome.

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.

Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.

A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression.

Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model.

Selective endothelin A receptor antagonism in chronic kidney disease: improving clinical application.

Urinary Dickkopf-related protein 3 as a novel biomarker for kidney function decline in children with Alport syndrome.

Genotype-Based Molecular Mechanisms in Alport Syndrome.

The Impact of a Western Diet High in Phosphate on the CKD-MBD in an Alport Syndrome Model.

Aberrant right renal perfusion from right internal mammary artery.

The role of cyclooxygenase-2 (COX-2) and inflammatory markers in the progress of Alport syndrome in Egyptian children.

Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient.

Actinomyces odontolyticus: A Rare Agent of Exit-Site Infection in Peritoneal Dialysis.

[Clinical and genetic features of persistent asymptomatic microscopic hematuria in children].

Alport syndrome: an update.

Advances in CRISPR-Cas systems for kidney diseases.

Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.