Associated Papers
Early use of renin-angiotensin-aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review.
Miyasako K et al.
Bmc Nephrology, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.
Sinha R et al.
Kidney International Reports, 2022
Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.
He Z et al.
Frontiers in Pediatrics, 2022
Uptake of next-generation sequencing in children with end-stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation-Experience from a low resource setting: A Retrospective Cohort Study.
Sinha R et al.
Pediatric Transplantation, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
Siji A et al.
Bmc Medical Genetics, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation.
Kakajiwala AK et al.
Clinical Nephrology. Case Studies, 2015
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
Büscher AK et al.
Clinical Nephrology, 2012
Alpha-actinin-4 and CLP36 protein deficiencies contribute to podocyte defects in multiple human glomerulopathies.
Liu Z et al.
The Journal of Biological Chemistry, 2011
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Dai S et al.
Nephron. Clinical Practice, 2009
Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
Weins A et al.
Journal of the American Society of Nephrology : Jasn, 2005