id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-001313-f72hl6du	Toncheva, D.	NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy	2014-05-15		.txt	text/plain	3648	217	40	Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure. Mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression to terminal renal failure. In the present study we aimed to perform exome sequencing of 22 000 genes with the Illumina Nextera Exome Enrichment Kit using NGS technology in order to find specific mutations for BEN. have intensively studied the pathological changes in the kidneys of BEN patients and presented evidence that renal vascular changes occur early in Balkan nephropathy [30] . MDR1 haplotypes modify BEN disease risk: a study in Bulgarian patients with Balkan endemic nephropathy compared to healthy controls	./cache/cord-001313-f72hl6du.txt	./txt/cord-001313-f72hl6du.txt