Genetics of focal segmental glomerulosclerosis.
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.
Woroniecki
Robert P
RP
Albert Einstein College of Medicine, Bronx, NY, USA. rworonie@aecom.yu.edu
Kopp
Jeffrey B
JB
D000185:Actinin / Q000235:genetics; D002874:Chromosome Mapping; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D054801:Phosphoinositide Phospholipase C; D010738:Type C Phospholipases / Q000235:genetics
C111453:ACTN4 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D008840:Microfilament Proteins; C407223:NPHS2 protein; C113267:nephrin; D000185:Actinin; D010738:Type C Phospholipases; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon