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Open Access and Subscription-Based Articles
All articles referenced below are Open Access, unless noted otherwise. For additional auditory-centric research articles, please visit our Hearing Loss Research page. For ocular-centric research papers, please visit our Eye Abnormalities page.
Alport syndrome and Alport kidney diseases – elucidating the disease spectrum
Puapatanakul, Pongpratcha and Miner, Jeffrey H
Nephrology and Hypertension, May 2024.
Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome
LeBleu, Valerie S et al.
Life Science Alliance, April 1, 2024.
Kidney Cysts in Children with Alport Syndrome: a Report of Three Cases
Chang, Yeun-Wen et al.
Kidney Medicine, March 25, 2024.
Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case report
Rao, Dipti et al.
Nephron, March 24, 2024.
Clinical Significance of the Cystic Phenotype in Alport Syndrome
Zeni, Letizia et al.
American Journal of Kidney Diseases, March 19, 2024.
Quantitative assessment of glomerular basement membrane collagen IV α chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants. (Subscription-Based)
Puapatanakul, Pongpratch et al.
Kidney International, February 22, 2024.
Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling
Gosselink, Margriet E. et al.
Kidney International, February 19, 2024.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer, Korbinian et al.
Clinical Genetics, January 12, 2024.
Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study
Juan-Juan, Ding et al.
Global Pediatric Health, January 2024.
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome
Bada-Bosch, Teresa et al.
Nephrology Dialysis Transplantation, January 4, 2024.
Protective Effects of Selective Mineralocorticoid Receptor Antagonist in Alport Syndrome on Top of RAS/SGLT2 Blockade
Song, Zhuo-ran et al.
Kidney International Reports, December 22, 2023.
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
Tkemaladze, T. et al.
Frontiers in Medicine, December 21, 2023.
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease
Dahl, Neera K. et al.
JASN, December 2023.
Collagen IV of basement membranes: II. Emergence of collagen IVα345 enabled the assembly of a compact GBM as an ultrafilter in mammalian kidneys
Pokidysheva, Elena N. et al.
Journal of Biological Chemistry, December 2023.
A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation
Deng, Zhuo et al.
Transplant Immunology, December 2023.
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports
Gao, Xiaoli et al.
Medicine, November 17, 2023.
Finerenone and other future therapeutic options for Alport syndrome
Helen Pearce and Holly Mabillard
Journal of Rare Diseases, November 8, 2023.
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
Yavas, Cuneyd et al.
Mol Syndromol, October 16 2023.
Ascending aortic aneurysm and histopathology in Alport syndrome: a case report
Kamiar, Ali et al.
BMC Nephrology, October 12, 2023.
Urinary Protein-Biomarkers Reliably Indicate Very Early Kidney Damage in Children With Alport Syndrome Independently of Albuminuria and Inflammation
Rhode, Heidrun et al.
Kidney International Reports, September 29, 2023.
The Phenotypic Spectrum of COL4A3 Heterozygotes
Solanki, Kaushal V. et al.
Kidney International Reports, July 25, 2023.
Finerenone Added to RAS/SGLT2 Blockade for Chronic Kidney Disease in Alport Syndrome. Results of a Randomized Controlled Trial with Col4a3-/- Mice (Subscription-Based)
Zhu, Zhihui et al.
Journal of the American Society of Nephrology, July 10, 2023.
CyclosporinA Derivative as Therapeutic Candidate for Alport Syndrome by Inducing Mutant Type IV Collagen Secretion
Kuwazuru, Jun et al.
Kidney360, July 2023.
When Should Dialysis Be Started in Children and Young Adults with Kidney Failure?
Bonebrake, Lisa
CJASN, June 27, 2023.
Targeting Fibrosis Pathways in Alport Syndrome—Is it Too Late?
Rheault, Michelle N.
Kidney360, May 2023.
A wave of deep intronic mutations in X-linked Alport Syndrome
Boisson, Marie et al.
Kidney International, May 22, 2023.
COL4A gene variants are common in children with hematuria and a family history of kidney disease (Subscription-Based)
Rheault, Michelle N. et al.
Pediatric Nephrology, May 19, 2023.
Sporadic Case of Heterozygous X-Linked Alport Syndrome
Zuckerman, Jonathan E. et al.
Glomerular Diseases, May 16, 2023.
Genetic Counseling in Kidney Disease: A Perspective
Stein, Quinn et al.
Kidney Medicine, May 13, 2023.
Treatment of Nondiabetic Kidney Diseases with Sodium-Glucose Cotransporter-2 Inhibitors
Brosius, Frank C.
CJASN, May 10, 2023.
Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes
Boeckhaus, Jan et al.
Cells, May 7, 2023.
Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
Kim, Ji Hyun et al.
Scientific Reports, April 26, 2023.
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases
Robert, Thomas et al.
Clinical Kidney Journal, April 25, 2023.
The Phenotypic Spectrum of COL4A3 Heterozygotes
Solanki, Kaushal V. et al.
medRxiv[Preprint], April 24, 2023.
Abnormal mRNA splicing effect of COL4A3–COL4A5 unclassified variants
Zhang, Yanqin et al.
Kidney International Reports, April 9, 2023.
Alport Syndrome: Clinical Spectrum and Therapeutic Advances
De Gregorio, Vanessa et al.
Kidney Medicine, March 21, 2023.
Patient-derived podocyte spheroids reveal new insights into the etiopathogenesis of Alport syndrome
Romero-Guevara, Ricardo et al.
Front Cell Dev Biol, March 2, 2023.
An Alport Syndrome Journey: From Powerless to Empowered
Bonebrake, Lisa.
Karger, February 1, 2023.
PPARδ agonism ameliorates renal fibrosis in an Alport syndrome mouse model
Omachi, Kohei et al.
Kidney360, November 29, 2022.
Effects of Bardoxolone Methyl in Alport Syndrome
Warady, Bradley A. et al.
CJASN, December 2022.
Digenic Alport Syndrome
Savige, Judy et al.
CJASN, November 2022. (Subscription-Based
A COL4A4-G394S variant and impaired collagen IV trimerization in a patient with mild Alport syndrome
Kohler, Jennefer et al.
Kidney360, October 2022.
A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome
Stavros Nikolaou and Constantinos Deltas
Genes, October 2022.
A systematic review of pathogenic COL4A5 variants and proteinuria in women and girls with X-linked Alport syndrome
Gibson, Joel T. et al.
Kidney International Reports, August 29, 2022.
COL4A4 variant recently identified: lessons learned in variant interpretation—a case report
Cocorpus, Jenelle et al.
BMC Nephrology, July
A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish
Naylor, Richard W. et al.
Kidney International, June 15, 2022.
Digenic Alport Syndrome
Savige, Judy et al.
CJASN, June 2022.
GWAS of Hematuria
Gagliano Taliun, Sarah A. et al.
CJASN, May 2022. (Subscription-Based)
What the Adult Nephrologist Should Know About Alport Syndrome
Kashtan, Clifford E.
Advances in Chronic Kidney Disease, May 2022. (Subscription-Based)
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
Gibson, Joel T. et al.
Scientific Reports, February 17, 2022.
Anti-microRNA-21 Therapy on Top of ACE Inhibition Delays Renal Failure in Alport Syndrome Mouse Models
Rubel, Diana et al.
Cells, February 9, 2022.
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough
Omachi, Kohei et al.
iScience, February 7, 2022.
Urinary Monocyte Chemoattractant Protein-1 in Patients With Alport Syndrome
Kashtan, Clifford et al.
Kidney International Reports, February 2022.
A Neutralizing IL-11 Antibody Improves Renal Function and Increases Lifespan in a Mouse Model of Alport Syndrome
Widjaja, Anissa et al.
Journal of the American Society of Nephrology, February 2022.
Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study
Boeckhaus, Jan et al.
Nephrology Dialysis Transplantation, January 12, 2022. (Subscription-Based)
Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response to renin-angiotensin-aldosterone system blockers in Chinese male patients with Alport syndromey
Di, Hongling et al.
Nephrology Dialysis Transplantation, January 10, 2022. (Subscription-Based)
Efficacy and Safety of Dapagliflozin in Children With Inherited Proteinuric Kidney Disease: A Pilot Study
Liu, Jiaojiao et al.
Kidney International Reports, December 21, 2021.
The matrix in focus: new directions in extracellular matrix research from the 2021 ASMB hybrid meeting
Nerger, Bryan A. et al.
Biology Open, December 7, 2021.
Guidelines for Genetic Testing and Management of Alport Syndrome
Savige, Judy et al.
Clinical Journal of the American Society of Nephrology, December, 2021. (Subscription-Based)
Intravital imaging reveals glomerular capillary distension and endothelial and immune cell activation early in Alport syndrome
Gyarmati, Georgina et al.
JCI Insight, November 18, 2021.
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
Wu, Jing et al.
BMC Nephrology, November 13, 2021.
Alport Syndrome With Kidney Cysts Is Still Alport Syndrome
Savige, Judy et al.
Kidney International Reports, November 9, 2021.
Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
Namba, Masumi et al.
Scientific Reports, October 21, 2021.
Last nucleotide substitutions of COL4A5 exons cause aberrant splicing
Aoto, Yuya et al.
Kidney International Reports, October 21, 2021.
Racial disparities and trends in kidney transplant outcomes in patients with Alport syndrome
Kizilbash, Sarah J. et al.
Clinical Nephrology, October 12, 2021. (Subscription-Based)
Evaluation of suspected autosomal Alport Syndrome synonymous variants
Rossanti, Rini et al.
Kidney360, September 30, 2021.
mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing
Wang, Xiaoyuan. et al.
Scientific Reports, September 10, 2021.
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
Gibson, Joel et al.
Journal of the American Society of Nephrology, September 2021. (Subscription-Based)
Small RNA sequencing evaluation of renal microRNA biomarkers in dogs with X-linked hereditary nephropathy
Chu, Candice P. et al.
Scientific Reports, August 31, 2021.
Compounds targeting OSBPL7 increase ABCA1-dependent cholesterol efflux preserving kidney function in two models of kidney disease
Wright, Matthew B. et al.
Nature Communications, August 2, 2021.
Sodium-Glucose Cotransporter-2 Inhibitors in Patients with Hereditary Podocytopathies, Alport Syndrome, and FSGS: A Case Series to Better Plan a Large-Scale Study
Jan Boeckhaus and Oliver Gross
Cells, July 18, 2021.
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review
Savige, Judy et al.
American Journal of Kidney Diseases, July 7, 2021.
Organoprotective Effects of Spironolactone on Top of Ramipril Therapy in a Mouse Model for Alport Syndrome
Rubel, Diana et al.
Journal of Clinical Medicine, June 30, 2021.
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome
Omachi, Kohei et al.
bioRxiv, June 11, 2021.
Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport Syndrome
Ning, Liang et al.
American Journal of Physiology – Renal Physiology, May 24, 2021. (Subscription-Based)
Multidisciplinary Management of Alport Syndrome: Current Perspectives
Kashtan, Clifford E.
Journal of Multidisciplinary Healthcare, May 21, 2021.
Uncovering Modifier Genes of X-linked Alport Syndrome Using a Novel Multi-parent Mouse Model
Takemon, Yuka et al.
Journal of the American Society of Nephrology, May 2021. (Subscription-Based)
Evolving role of patient registries in Alport syndrome
Kashtan, Clifford E.
Future Rare Diseases, April 27, 2021.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Savige, Judy et al.
European Journal of Human Genetics, April 15, 2021.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series
Furlano, Mónica et al.
American Journal of Kidney Diseases, April 7, 2021.
In Vivo Assessment of Metabolic Abnormality in Alport Syndrome Using Hyperpolarized [1-13C] Pyruvate MR Spectroscopic Imaging
Nguyen, Nguyen-Trong et al.
Metabolites, April 6, 2021.
Genetic Basis of Type IV Collagen Disorders of the Kidney
Catherine Quinlan and Michelle Rheault
Clinical Journal of the American Society of Nephrology, April 2021.
Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bardoxolone Methyl in Patients with Alport Syndrome
Chertow, Glenn et al.
American Journal of Nephrology, March 31, 2021.
Metformin ameliorates the severity of experimental Alport syndrome
Omachi, Kohie et al.
Scientific Reports, March 29, 2021.
Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Zhang, Yanqin et al.
Pediatric Nephrology, March 27, 2021.
HMGB-1 and TGFβ-1 highlight immuno-inflammatory and fibrotic processes before proteinuria onset in pediatric patients with Alport syndrome
Chimenz, R. et al.
Journal of Nephrology, March 24, 2021 (Subscription-Based)
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation
Schrezenmeier, Eve et al.
Genetics in Medicine, March 12, 2021.
Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
Wen-yu, Gong et al.
BioMed Research International, March 2, 2021.
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants
Shulman, Cole et al.
Kidney Medicine, February 10, 2021.
A Synopsis for Individuals and Families with Alport syndrome: Clinical Practice Recommendations for the Treatment of Alport Syndrome in Children, Adolescents and Young Adults – An Update for 2020
Kashtan, Clifford E.
February, 2021.
Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome
Nozu, Kandai et al.
Kidney Research and Clinical Practice, December 31, 2020.
A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome
Odiatis, Christoforos et al.
Science Direct, December 30, 2020.
Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome
Boeckhaus, Jan et al.
Life, December 18, 2020.
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska, Aleksandra M. et al.
Kidney International, December 10, 2020.
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020*
Kashtan, Clifford E. and Gross, Oliver.
Pediatric Nephrology, November 6, 2020. (Subscription-Based)
*Note: Dr. Kashtan’s layman’s summary of this Pediatric Nephrology article can be read here.
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Bocekhaus, Jan et al.
Clinical Genetics, October 18, 2020.
How genomics reclassifies diseases: the case of Alport syndrome
Torra, Roser et al.
Clinical Kidney Journal, September 16, 2020.
DNA-seq analysis of gene expression profiles in isolated stria vascularis from wild-type and Alport mice reveals key pathways underling Alport strial pathogenesis
Dufek, Brianna et al.
PLoS One, August 21, 2020.
Vestibular and audiological findings in the Alport syndrome
Barozzi, Stefania et al.
The American Journal of Medical Genetics, August 20, 2020. (Subscription-Based)
Alport Syndrome Classification and Management
Warady, Bradley et al.
Kidney Medicine, August 7, 2020.
Alport Syndrome: Research highlights link between genotype and treatment effectiveness
Kobe University, Graduate School of Medicine, August 7, 2020.
Sterol-O-acyltransferase-1 has a role in kidney disease associated with diabetes and Alport Syndrome.
Liu, Xiaochen et al.
Kidney International, July 29, 2020. (Subscription-Based)
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Yamamura, Tomohiko et al.
Kidney International, July 23, 2020.
Alport syndrome: Achieving Early Diagnosis and Treatment
Kashtan, Clifford E.
American Journal of Kidney Diseases, July 22, 2020.
Glomerular endothelial cell heterogeneity in Alport syndrome
Soloyan, Hasmik et al.
Scientific Reports, July 10, 2020.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
Yamamura, Tomohiko et al.
Nature Communications, June 2, 2020.
Long-term ACE inhibition in Alport syndrome: are the benefits worth the risks?
Rheault, Michelle N. et al.
Kidney International, June 1, 2020, Volume 97, Issue 6, 1104 – 1106 (Subscription-Based)
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
Daga, Sergio et al.
European Journal of Human Genetics, April 28, 2020.
Clinical trial recommendations for potential Alport syndrome therapies
Weinstock, B. André et al.
Kidney International, April 6, 2020.
Raising the Volume on Alport Syndrome: A Patient Perspective
Dunleavy, Megan E.
Kidney360, April 2020.
New treatment method for Alport Syndrome uses antisense oligonucleotides
Kobe University, Graduate School of Medicine, June 25, 2020.
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome
Gross, Oliver et al.
Kidney International, January 17, 2020.
Extracellular matrix, regional heterogeneity of the aorta, and aortic aneurysm
Jana, Sayantan et al.
Experimental & Molecular Medicine, December 19, 2019.
Contributions of Rare Gene Variants to Familial and Sporadic FSGS
Wang, Minxian et al.
Journal of the American Society of Nephrology, September, 2019.
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
Yamamura, Tomohiko et al.
Molecular Genetics and Genomic Medicine, July 30, 2019.
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Zhang, Xiao et al.
Orphanet Journal of Rare Diseases, December 22, 2018.
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group
Kashtan, Clifford E., Ding, Jie, et al.
Kidney International, March 15, 2018, Volume 93, Issue 5, 1045 – 1051 (Subscription-Based)
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations
Sen, Ethan et al.
Journal of Medical Genetics, August 5, 2017.
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome
Kamiyoshi, Naohiro et al.
CJASN, August 2016.
Alport Syndrome in Women and Girls
Savige, Judy et al.
CJASN, June 2016.
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
Gross, Oliver et al.
Nephrology Dialysis Transplantation, May 11, 2016.
Long-term management of Alport syndrome in pediatric patients
Kashtan, Clifford E.
Pediatric Health, Medicine and Therapeutics, April 24, 2013.
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative
Kashtan, Clifford E. et al.
Pediatric Nephrology, August 2012.