Flokkur: Erfðafræði

MiR-21-3p influences breast cancer progression

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.

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Epitranscriptomic regulation of DNA repair genes

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.

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BRCA2 haploinsufficiency in telomere maintenance

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.

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A cell line for functional analysis of the SMOR173C variant

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.

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Pilarowski-Björnsson Syndrome is a sexually dimorphic trait

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.

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