About: NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

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About: NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy Goto Sponge NotDistinct Permalink

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Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy
Creator	Balabanski, L Dimitrov, P Dimova, I Djonov, V Djordjevic, V Galabov, A Hukuranovit, R Ivanov, S Jankovic-Velickovic, L Jevtovic-Stoimenov, T Karachanak, S Malinov, M Mihailova-Hristova, M Plaseska-Karanfilska, D Polenakovic, M Serbezov, D Simeonov, V Staneva, R Stefanovic, V Toncheva, D Vazharova, R
Source	PMC
abstract	Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure. The results of molecular biological investigations propose that BEN is a multifactorial disease with genetic predisposition to environmental risk agents. Exome sequencing of 22 000 genes with Illumina Nextera Exome Enrichment Kit was performed on 22 DNA samples (11 Bulgarian patients and 11 Serbian patients). Software analysis was performed via NextGene, Provean, and PolyPhen. The frequency of all annotated genetic variants with deleterious/damaging effect was compared with those of European populations. Then we focused on nonannotated variants (with no data available about them and not found in healthy Bulgarian controls). There is no statistically significant difference between annotated variants in BEN patients and European populations. From nonannotated variants with more than 40% frequency in both patients' groups, we nominated 3 genes with possible deleterious/damaging variants—CELA1, HSPG2, and KCNK5. 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. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.
has issue date	2014-05-15(xsd:dateTime)
bibo:doi	10.1155/2014/920723
bibo:pmid	24949484
has license	cc-by
sha1sum (hex)	6aa7ff7bbaba12fef375a84c5ba297d9f848541f
schema:url	https://doi.org/10.1155/2014/920723
resource representing a document's title	NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy
has PubMed Central identifier	PMC4052113
has PubMed identifier	24949484
schema:publication	Biomed Res Int
resource representing a document's body	covid:6aa7ff7bbaba12fef375a84c5ba297d9f848541f#body_text
is schema:about of	named entity 'controls' named entity 'BEN' named entity 'focused' named entity 'populations' named entity 'molecular' named entity 'DNA' named entity 'Genes' named entity 'ENCODE' named entity 'PERFORMED' named entity 'PLAYS' named entity 'ILLUMINA' named entity 'GENETIC PREDISPOSITION' named entity 'FOCUSED' named entity 'MOLECULAR' named entity 'MORE THAN' named entity 'DIFFERENCE' named entity 'KEY' named entity 'CHRONIC' named entity 'STATISTICALLY SIGNIFICANT' named entity 'SERBIAN' named entity 'MATRIX' named entity 'GROUPS' named entity '40%' named entity 'TERMINAL' named entity 'INVOLVED' named entity 'TUBULOINTERSTITIAL DISEASE' named entity 'SUGGEST' named entity 'PREDISPOSITION' named entity 'LEADING' named entity 'HSPG2' named entity 'HEALTHY' named entity 'EXOME' named entity 'GENES' named entity 'EFFECT' named entity 'BULGARIAN' named entity 'ABNORMAL PROCESS' named entity 'RESULTS' named entity 'EXOME SEQUENCING' named entity 'COMPARED' named entity 'PROCESS' named entity 'ANNOTATED' named entity 'KIT' named entity 'PROTEINS' named entity 'POPULATIONS' named entity 'ROLE' named entity 'ANALYSIS' named entity 'CELA1' named entity 'BASEMENT MEMBRANE' named entity 'GENES' named entity 'BALKAN ENDEMIC NEPHROPATHY' named entity 'NOT FOUND' named entity 'RENAL FAILURE' named entity 'FREQUENCY' named entity 'MUTANT GENES' named entity 'BEN' named entity 'NO DATA AVAILABLE' named entity 'EUROPEAN' named entity 'BIOLOGICAL' named entity 'IS A' named entity 'FAMILIAL' named entity 'ENVIRONMENTAL RISK'

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