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 end-stage kidney disease due to Alport syndrome diagnosed by skin biopsy after review of a renal biopsy 12 years ago
- A case of membranous nephropathy complicated by Cronkhite-Canada syndrome successfully treated with mizoribine
- A case of X-linked Alport syndrome with esophageal leiomyomatosis
- A case report: Alport syndrome and growth hormone deficiency associated with a new COL4A4 mutation
- 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 Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
- A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
- A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts
- A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome
- A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure
- Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series
- Advances in gene therapy for Alport syndrome
- Alport Syndrome
- Alport syndrome and Alport kidney diseases - elucidating the disease spectrum
- Alport syndrome presenting as posterior polymorphous corneal dystrophy: Case report
- An Adolescent Boy With Hypoxia, Microscopic Hematuria, and Hypertension
- An unusual case of nephrotic syndrome
- An unusual macroscopic aspect of a kidney biopsy: a nephrology quiz
- Autosomal dominant chronic tubulointerstitial nephropathy: do not forget amyloidosis
- Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report
- Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome
- Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family
- Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant
- Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome
- Chemical chaperones to the rescue of Alport syndrome?
- Classic anterior lenticonus in Alport syndrome
- Clinical Significance of the Cystic Phenotype in Alport Syndrome
- Clinical, Pathological, and Genetic Characteristics of Patients with Digenic 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
- Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome
- 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
- Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
- Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
- Efficacy and safety of dapagliflozin in children with kidney disease: real-world data
- Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene
- Explaining Alport syndrome-lessons from the adult nephrology clinic
- Exploration of Gene Therapy for Alport Syndrome
- Exploring the link between Alport syndrome and multiple intracranial artery stenoses: a case report of COL4A5 mutation (118/120 characters)
- Follow-Up of Bilateral Iridoschisis in a Patient With Alport Syndrome
- Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
- Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis
- Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
- Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology
- Genetic diagnosis of Alport syndrome in 16 Chinese families
- Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome
- Genetic study of Alport syndrome in Tunisia
- Genome editing and kidney health
- Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study
- Genomics in the kidney clinic
- Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome
- Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of <em>COL4A5</em> variants
- Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants
- Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience
- Glomerular Elasticity and Gene Expression Patterns Define Two Phases of Alport Nephropathy
- Glucosylceramide synthase modulation ameliorates murine renal pathologies and promotes macrophage effector function in vitro
- 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
- Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases
- Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease
- Kidney failure secondary to hereditary xanthinuria due to a homozygous deletion of the XDH gene, in the absence of overt kidney stone disease
- Kidney involvement in rare hereditary diseases
- Lessons Learned from HERA: the First Alport Syndrome Therapeutic Clinical Trial
- Mechanism of protective actions of sparsentan in the kidney: lessons from studies in models of chronic kidney disease
- Metabolic Analysis and Renal Protective Effects of Linagliptin and Empagliflozin in Alport Syndrome
- Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD)
- Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era
- Multimodal Imaging in Unusual Alport Retinopathy
- MYH9-related disease with a normal platelet count
- Nicotinamide riboside activates renal metabolism and protects the kidney in a model of Alport syndrome
- NRF2 in kidney physiology and disease
- Paediatric diffuse oesophageal leiomyomatosis with Alport syndrome
- Patient and Caregiver Perspective on PRO-Kid Quality of Life Tool
- Precision diagnosis and therapeutic intervention of Alport syndrome
- Progress in therapeutic targets on podocyte for Alport syndrome
- Protective Effects of Selective Mineralocorticoid Receptor Antagonist in Alport Syndrome on Top of Renin-Angiotensin-System/ Sodium-Glucose Transporter 2 Blockade
- Protocol and rationale for a randomized controlled SGLT2 inhibitor trial in pediatric and young adult populations with chronic kidney disease: DOUBLE PRO-TECT Alport
- Quantitative assessment of glomerular basement membrane collagen IV alpha chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants
- 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
- Refractive Surgery in a Patient with Alport Syndrome. A Case Report
- Retinal Detachment After Macular Hole Repair in Alport Syndrome
- Scrotal edema due to bilateral metachronous tears in the spigelian fascia in a peritoneal dialysis patient: A case report
- Spontaneous rupture of the anterior lens capsule in Alport syndrome (case study)
- Staircase Lamellar Macular Hole in a Male Patient Aged 54 Years
- Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation
- The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822-10T>C, which has been identified as a causative factor for Alport syndrome
- The spatially resolved transcriptome signatures of glomeruli in chronic kidney disease
- 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
- Urine-derived podocytes from steroid resistant nephrotic syndrome patients as a model for renal-progenitor derived extracellular vesicles effect and drug screening
- Urine-derived podocytes from steroid resistant nephrotic syndrome patients as a model for renal-progenitor derived extracellular vesicles effect and drug screening
- X-linked Alport syndrome presenting in mother and son with the same unique histopathological features