Genetics of focal segmental glomerulosclerosis

Robert P. Woroniecki; Jeffrey B. Kopp

doi:10.1007/s00467-007-0445-y

Genetics of focal segmental glomerulosclerosis

Robert P. Woroniecki
, Jeffrey B. Kopp

Pediatrics

National Institutes of Health

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

Abstract

The recent advances in understanding the pathophysiology of focal segmental glomerulosclerosis (FSGS) and molecular function of glomerular filtration barrier come directly from genetic linkage and positional cloning studies. The exact role and function of the newly discovered genes and proteins are being investigated by in vitro and in vivo mechanistic studies. Those genes and proteins interactions seem to change susceptibility to kidney disease progression. Better understanding of their exact role in the development of FSGS may influence future therapies and outcomes in this complex disease.

Original language	English
Pages (from-to)	638-644
Number of pages	7
Journal	Pediatric Nephrology
Volume	22
Issue number	5
DOIs	https://doi.org/10.1007/s00467-007-0445-y
State	Published - May 2007

Keywords

Filtration barrier
Gene mutations
Linkage analysis
Positional cloning

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abstract = "The recent advances in understanding the pathophysiology of focal segmental glomerulosclerosis (FSGS) and molecular function of glomerular filtration barrier come directly from genetic linkage and positional cloning studies. The exact role and function of the newly discovered genes and proteins are being investigated by in vitro and in vivo mechanistic studies. Those genes and proteins interactions seem to change susceptibility to kidney disease progression. Better understanding of their exact role in the development of FSGS may influence future therapies and outcomes in this complex disease.",

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AB - The recent advances in understanding the pathophysiology of focal segmental glomerulosclerosis (FSGS) and molecular function of glomerular filtration barrier come directly from genetic linkage and positional cloning studies. The exact role and function of the newly discovered genes and proteins are being investigated by in vitro and in vivo mechanistic studies. Those genes and proteins interactions seem to change susceptibility to kidney disease progression. Better understanding of their exact role in the development of FSGS may influence future therapies and outcomes in this complex disease.

KW - Filtration barrier

KW - Gene mutations

KW - Linkage analysis

KW - Positional cloning

UR - https://www.scopus.com/pages/publications/34247869624

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Genetics of focal segmental glomerulosclerosis

Abstract

Keywords

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