Arsalan Amirfallah: We analyzed if miR-21-3p expression can predict patient prognosis. Our results indicate that high miR-21-3p expression is associated with a worse prognosis for breast cancer patients and it affects pathways that support breast tumor proliferation.
Snædís Ragnarsdóttir
The main objective of this study is to use the CRISPR technology to generate cell line models for the BRCA2999del5 and BRCA2K3326* variants and to study their tissue specific function and possible haploinsufficiency.
María Rose Bustos
Erindið er kynning á meistaraverkefni sem snýr að því að rannsaka tjáningu viðgerðargena í frumum sem bera BRCA2 stökkbrigði, í von um að auka skilning á nýmyndun krabbameina í BRCA2 arfberum.
Main author: Karen Kristjánsdóttir
Project focuses on a key protein in the DNA-DSB repair pathway, RNF168 and how it is regulated by two members of the AlkB-family of alkylation damage repair proteins, ALKBH3 and FTO. They do so by removing a methylation mark from the RNF168 mRNA transcript.
Sigríður K. Böðvarsdóttir lýsir arfstökum áhrifum arfgengra BRCA2 stökkbreytinga á telomere galla í eitilfrumulínum. Telomere gallar greindir með FISH aðferð reyndust stigmagnast í eitilfrumulínum með arfblendnar og arfhreinar BRCA2 stökkbreytingar samanborið við villigerð. Telomere gallar geta aukið krabbameinsáhættu arfbera.
Main author: Elín Sigurbjörnsdóttir. SMO protein is a key activator of the hedgehog pathway. A rare missense variant in the human SMO gene has found to be highly associated with hip osteoarthritis. To understand the variant in hedgehog signaling, the goal is to use cell lines to generate systems that truly represent the variant.
Aðalhöfundur: Valgerður J. Hjaltalín
We have described a region of ATG7 that evolved in early vertebrates and has stabilized in mammals, being overall under strong purifying selection. This suggests that the region might account for a new function of the protein. Interestingly, two cancer related sites reside in this region.
Main author: Kimberley Anderson. Here, we present a novel mouse model for the neurodevelopmental disorder, Pilarowski-Björnsson syndrome (PBS). We have observed striking sexually dimorphic phenotypes in these mice, and will use our findings to improve mechanistic understanding of the disorder.
Aðalhöfundur: Birkir Þór Bragason. Lýsing á erindinu: Erindið fjallar um heilraðgreiningu á erfðamengi bakteríunnar Renibacterium salmoninarum, sem sýkir laxfiska, og samanburð íslenskra stofna við erlenda stofna.
Inga Stefanía Geirsdóttir. Arfgengur járnhleðslukvilli er algengasti þekkti víkjandi erfðasjúkdómurinn í fólki af norður evrópskum uppruna, oftast vegna stökkbreytingar C282Y í HFE geni. Markmið rannsóknarinnar var að skoða tengsl arfhreinna C282Y við hinar ýmsu svipgerðir í aðgengilegum erfðagagnasöfnum.
