Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome

Thakor, Jinal M.; Parmar, Glory; Mistry, Kinnari N.; Gang, Sishir; Rank, D. N.; Joshi, Chaitanya

doi:10.1007/s11033-021-06711-4

Cited by 2 publications

(1 citation statement)

References 56 publications

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“…Detailed electron microscopic studies on nephrotic material from GLEPP1 deficient mice and other glomerular disease models, including Alport syndrome, revealed that podocyte invasion into the glomerular basement membrane (GBM) preceded GBM thickness alteration and a gradual loss of podocyte foot processes during disease progression ( Randles et al, 2016 ). Nephron functionality apparently is very vulnerable because many different podocyte-related genes have been uncovered as monogenetic cause of nephrotic syndromes, and mutant PTPRO alleles are regularly detected ( Trautmann et al, 2018 ; Thakor et al, 2021 ), although this could be population dependent ( Al-Hamed et al, 2013 ).…”

Section: Documented Genetic Variabilitymentioning

confidence: 99%

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks

Cruchten

Pulido

2023

Front. Cell Dev. Biol.

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Protein tyrosine phosphatases, together with protein tyrosine kinases, control many molecular signaling steps that control life at cellular and organismal levels. Impairing alterations in the genes encoding the involved proteins is expected to profoundly affect the quality of life—if compatible with life at all. Here, we review the current knowledge on the effects of germline variants that have been reported for genes encoding a subset of the protein tyrosine phosphatase superfamily; that of the thirty seven classical members. The conclusion must be that the newest genome research tools produced an avalanche of data that suggest ‘guilt by association’ for individual genes to specific disorders. Future research should face the challenge to investigate these accusations thoroughly and convincingly, to reach a mature genotype-phenotype map for this intriguing protein family.

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Section: Documented Genetic Variabilitymentioning

confidence: 99%

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks

Cruchten

Pulido

2023

Front. Cell Dev. Biol.

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The View of Pediatric Nephrotic Syndrome as a Podocytopathy

Vaz de Castro,

Fujihara Ide,

Crespo Torres

et al. 2023

Kidney and Dialysis

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Nephrotic syndrome (NS) is a complex clinical entity characterized by proteinuria, hypoalbuminemia, and edema. In this review, we propose the view of NS as a podocytopathy, highlighting the importance of understanding the role of podocytes in the development of this condition. We discuss the various etiologies of NS, ranging from congenital to primary renal diseases, as well as secondary forms due to systemic diseases. We also delve into the mechanisms underlying podocyte injury, which plays a crucial role in the development of NS. By viewing NS as a podocytopathy, we suggest potential implications for the diagnosis and treatment of this condition, including the use of podocyte-specific biomarkers and targeted therapies. Our review provides a comprehensive overview of NS and its underlying mechanisms, emphasizing the importance of a multidisciplinary approach to the diagnosis and management of this condition. Further research is essential to better understand the complex interplay between podocyte injury and the development of NS, with the ultimate goal of improving patient outcomes.

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Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome

Cited by 2 publications

References 56 publications

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

The View of Pediatric Nephrotic Syndrome as a Podocytopathy

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