20.500.12556/DKUM-80856 Genska ontologija za odkritje molekularno bioloških poti in procesov, povezanih s siringomielijo in chiari podobno malformacijo pri domačem psu Gene ontology for the discovery of molecular biological pathways and processes associated with syringomyelia and chiari-like malformation in the domestic dog Uvod: Siringomielija (SM) in Chiari podobna malformacija (CPM)sta dve pogosti bolezni, ki se pojavljata pri domačem psu in najpogosteje prizadeneta pse pasme Cavalier King Charles španjel (CKCS) in bruseljski grifon (BG). Bolezni predstavljata problem čistokrvne reje miniaturnih pasem. CKCS je pasma, pogosto podvržena boleznim mitralne zaklopke, več kot 50% psov pasme CKCS pa naj bi trpelo za SM Metode: S pomočjo do sedaj opravljenih raziskav, genske ontologije in bioinformacijskih pristopov smo odkrili molekularno biološke poti, ki bi lahko v prihodnosti prispevale k oblikovanju novih smernic za raziskave CPM in SM.CPM kot SM smo obravnavali kot ločeni bolezni in za vsako naredili ločeno analizo genske ontologije. Podrobneje smo si pogledali termine GO z visoko stopnjo statistične značilnosti. Rezultati: S CPM smo povezali 3 gene, ki so bili omenjeni v literaturi (CDX1, FBNI, CSKD1) in 3 gene za SM (ILR6, PCDH17, ZWINT). Za konec smo preverili ali si bolezni delita skupne termine genske ontologije, pri čemer smo dobili 6 skupnih terminov, ki niso dovolj izčrpni, da bi jih lahko uporabili v nadaljnjih analizah. Sklep in razprava: Potrdili smo ujemanje genov z posameznima boleznima, kar lahko služi kot smernica za nadaljnje analize. Laboratorijske raziskave, bi lahko bile naslednji korak, ki bi podale globlje informacije izbrane kompleksne bolezni. Introduction: Syringomyelia (SM) and Chiara-like malformation (CM) are two common diseases that occur in a domestic dog. The most commonly affected dogs are Cavalier King Charles Spaniel (CKCS) and Brussels Griffon (BG). The diseases represent one of the terminal problems of purebred rejection of miniature breeds. CKCS is a breed that is often subject to mitral valve disease, and more than 50% of CKCS dogs are said to suffer from SM. Research: With the help of research conducted so far, genetic ontology and bioinformatics approaches, we have discovered molecular biological pathways that could contribute in the future to the development of new guidelines for CM research in SM. CM as SM was treated as separate diseases and a separate analysis of gene ontology was performed for each other. We took a closer look at GO terms with a high degree of statistical characterization. Results: CPM included 3 genes mentioned in scientific papers (CDX1, FBNI, CSKD1) and 3 SM genes (ILR6, PCDH17, ZWINT). Finally, we checked whether the diseases share common terms of gene ontology, and we obtained 6 common terms that are not comprehensive enough to be used in the following analyses. Discussion and conclusion: We have concluded the matching of some genes with the diseases, which could be useful for further analyses. Laboratory research is not excluded and could provide further information for this complex disease genska ontologija siringomielija Chiari podobna malformacija domači pes. genska ontologija siringomielija Chiari podobna malformacija domači pes. gene ontology syringomyelia Chiari-like malformation domestic dog true true false [T. Pečovnik] Slovenski jezik Angleški jezik Magistrsko delo/naloga 2021-10-29 07:56:48 2022-02-15 15:48:57 2022-08-10 00:02:55 0000-00-00 00:00:00 2022 0 Maribor 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575.111:636.7+616(043.2) 97406979 MAG_Pecovnik_Tjasa_2021.pdf MAG_Pecovnik_Tjasa_2021.pdf 1 1BEB1D833E4E0F7753D12AF78864CFE9 dadda06cbf10c8d40c8b350ad19f7befbc331149e99c132be91468d55283716b 412708a8-5403-11ec-b64d-00155d000105 20.500.12556/dkum/bb71f922-354f-474f-90b7-56faea5fa0a9 https://dk.um.si/Dokument.php?lang=slv&id=155657 Fakulteta za zdravstvene vede 0 0 0