id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_wmvdyd5sqzanxj27s7sbmpwkxe	M. R. Pollak	Inherited Podocytopathies: FSGS and Nephrotic Syndrome from a Genetic Viewpoint	2002	8	.pdf	application/pdf	7654	677	59	Studies involving genetic manipulations in mice have identified additional genes involved in regulating the normal podocyte phenotype and in the development of FSGS. positional genetic approaches taken to identify the most upstream cause of two childhood forms of nephrotic syndrome Like humans with two mutant NPHS1 alleles, mice homozygous for targeted disruption of nephrin have neonatal nephrosis Disease Locus Inheritance Gene Protein MIMNumber* Reference Congenital nephrotic syndrome 19q13.1 AR NPHS1 nephrin 602716 [14] with familial steroid-responsive nephrotic syndrome and apparent autosomal recessive inheritance. Charcot-Marie Tooth disease (70) and the Galloway-Mowat syndrome (71) are both forms of inherited neuropathy in which nephrosis and/or FSGS are seen with increased frequency. spectrum in the nephrin gene (NPHS 1) in congenital nephrotic encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. study of human genetic disease: Nail-patella syndrome and transcriptional regulation in podocytes.	./cache/work_wmvdyd5sqzanxj27s7sbmpwkxe.pdf	./txt/work_wmvdyd5sqzanxj27s7sbmpwkxe.txt