id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_fqfiaqoblnhindpg2x5nydtlyi	Martin R. Pollak	The genetic basis of FSGS and steroid-resistant nephrosis	2003	6	.pdf	application/pdf	4548	424	57	Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome have provided Congenital nephrotic syndrome and familial forms of FSGS Mutations in both podocin gene (NPHS2) alleles lead to a wide range of human disease, from childhoodonset steroid-resistant FSGS and minimal change disease to adult-onset FSGS. ACTN4, the �-actinin-4 gene, can lead to a slowly progressive adult-onset form of FSGS. syndrome were described in a 1957 report.2 Pathology showed minimal change disease in some children, FSGS in others. shown to cause defective trafficking of the protein.24 In addition to the high prevalence in Finland, NPHS1 mutations are frequent in Mennonites Congenital nephrotic syndrome 19q13.1 Autosomal recessive NPHS1 Nephrin 602716 Kestila et al12 glomerulopathy is variable and can present as nephrotic syndrome.57 Defects in the lmx1b transcription factor are responsible for disease.58,59 cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome. the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.	./cache/work_fqfiaqoblnhindpg2x5nydtlyi.pdf	./txt/work_fqfiaqoblnhindpg2x5nydtlyi.txt