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Št. zadetkov: 6
High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients
Mitja Mitrovič, Uroš Potočnik
Izvirni znanstveni članek
Oznake: kronično vnetna črevesna bolezen;high-resolution melting analysis;NOD2/CARD15;inflammatory bowel diseases;
Inflammatory bowel diseases (IBD) are usually classified into Crohn's disease (CD) and ulcerative colitis (UC). NOD2/CARD15 was the first identified CD-susceptibility gene and was confirmed as the most potent disease gene in CD pathogenesis. Three NOD2/CARD15 variants, namely two missense polymorphi ...
Leto: 2011 Vir: Fakulteta za kemijo in kemijsko tehnologijo (UM FKKT)
High resolution melting curve analysis for high-throughput SNP genotyping in IL23R gene and association of IL23R with Slovenian inflammatory bowel diseases patients
Mitja Mitrovič, Uroš Potočnik
Izvirni znanstveni članek
Oznake: SNP genotyping;high resolution melting;DNA dyes;inflammatory bowel diseases;LC Green Plus;
Single nucleotide polymorphism (SNP) analysis is important tool in the studies of genetic factors associated with complex diseases and with genetically influenced response to drug therapy (pharmacogenetics). Recently, a new generation of generic dsDNA binding dyes (LCGreenTM) contributed to the deve ...
Leto: 2010 Vir: Medicinska fakulteta (UM MF)
Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci
Karin Fransen, Mitja Mitrovič, Uroš Potočnik
Izvirni znanstveni članek
Oznake: inflammatory bowel diseases;IBD;genetic locus;genetics;
Background Genome-wide association studies of two main forms of inflammatory bowel diseases (IBD), Crohnʼs disease (CD) and ulcerative colitis (UC), have identified 99 susceptibility loci, but these explain only ~23% of the genetic risk. Part of the Žhidden heritabilityʼ could be in transmissible ge ...
Leto: 2012 Vir: Medicinska fakulteta (UM MF)
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
Jimmy Z Liu, Mitja Mitrovič, Uroš Potočnik
Izvirni znanstveni članek
Oznake:
Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation1, 2, 3. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyp ...
Leto: 2013 Vir: Medicinska fakulteta (UM MF)
ǂThe ǂquest for genetic risk factors for Crohn's disease in the post-GWAS era
Karin Fransen, Mitja Mitrovič, Cleo C van Diemen, Rinse K. Weersma
Pregledni znanstveni članek
Oznake: genetic risk factors;Crohn’s disease;
Multiple genome-wide association studies (GWASs) and two large scale meta-analyses have been performed for Crohn's disease and have identified 71 susceptibility loci. These findings have contributed greatly to our current understanding of the disease pathogenesis. Yet, these loci only explain approx ...
Leto: 2011 Vir: Medicinska fakulteta (UM MF)
Asociacijska analiza na celotnem genomu pri slovenskih bolnikih s kronično vnetno črevesno boleznijo
Mitja Mitrovič, Uroš Potočnik, Uroš Potočnik, Rinse K. Weersma, Pavel Skok, Pavel Skok, Damjan Glavač, Marjan Skalicky, Ivan Krajnc
Doktorska disertacija
Oznake: ulcerozni kolitis;Crohnova bolezen;medicinska genetika;asociacijska analiza na celotnem genomu;genetski polimorfizem;epidemiologija;patogeneza;DNA mikromreže;ImmunoChip;
V preteklih desetletjih je bil v raziskave in razumevanje patogeneze KVČB vložen precejšen napor, vendar natančni vzroki nastanka bolezni še niso povsem pojasnjeni. Po zdaj najbolj uveljavljeni hipotezi se bolezen pojavi zaradi pretiranega imunskega odziva na normalno črevesno mikrofloro pri gensko ...
Leto: 2013 Vir: Medicinska fakulteta (UM MF)
Št. zadetkov: 6
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