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The New England Journal of Medicine|April 20, 2012
Integrin α3 mutations with kidney, lung, and skin diseaseCristina Has, Giuseppina Spartà, Dimitra Kiritsi, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.American Journal of Human Genetics|January 6, 2015
Defects of CRB2 cause steroid-resistant nephrotic syndromeLwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, et al.American Journal of Human Genetics|May 13, 2014
Mutations in EMP2 cause childhood-onset nephrotic syndromeHeon Yung Gee, Shazia Ashraf, Xiaoyang Wan, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Anillin variant in proteinuric kidney disease drives tubular epithelial cell death, junctional instability, and barrier dysfunctionZie Craig, Holly M Jacobs, Damian Fermin, et al.The Journal of Clinical Investigation|May 12, 2015
KANK deficiency leads to podocyte dysfunction and nephrotic syndromeHeon Yung Gee, Fujian Zhang, Shazia Ashraf, et al.Journal of the American Society of Nephrology : JASN|April 17, 2021
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGSBrandon M Lane, Susan Murray, Katherine Benson, et al.Biorxiv : the Preprint Server for Biology|December 25, 2025
Dapagliflozin mitigates hypoxia-induced metabolic stress, kidney tubular cell death and fibrosisAkihiro Minakawa, Jamal El Saghir, Céline C Berthier, et al.Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.Journal of the American Society of Nephrology : JASN|July 8, 2015
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE SubjectsMatthew G Sampson, Catherine C Robertson, Sebastian Martini, et al.Pageof 5