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Articles & Papers

See below for downloadable .PDF files of various Alport syndrome research papers. Scroll beyond this top section for our regularly updated archive of website-based research papers.

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.

 

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.

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.

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, August 2021. (Subscription-Based)

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. (Subscription-Based)

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.

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, June 2021. (Subscription-Based)

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.

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.

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.

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