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Fletta eftir efnisorði "Genarannsóknir"

Fletta eftir efnisorði "Genarannsóknir"

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    Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study 
    Silva, Ana I.; Ulfarsson, Magnus; Stefansson, Hreinn; Gústafsson, Ómar; Walters, G. Bragi; Linden, David E.J.; Wilkinson, Lawrence S.; Drakesmith, Mark; Owen, Michael J.; Hall, Jeremy; Stefansson, Kari (Elsevier BV, 2019-04-01)
    Background: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is ...
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    The role of MITF in regulating transcriptional cell states in melanoma 
    Remina, Dilixiati (University of Iceland, School of Health Sciences, Faculty of Medicine, 2019-03)
    The pigment producing melanocytes are derived from the neural crest cells and form precursor cells called melanoblasts. These cells proliferate and migrate to their destination in skin, hair and other organs where they differentiate into melanocytes ...
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    Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population 
    Razak, Suhail; Bibi, Nousheen; Dar, Javid Ahmad; Afsar, Tayyaba; Almajwal, Ali; Parveen, Zahida; Jahan, Sarwat (Springer Science and Business Media LLC, 2019-11-07)
    Background: Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) inactivation, KRAS, dysregulation ...
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    Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures 
    Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Gudjonsson, Sigurjon A.; Sigurdsson, Asgeir; Center, Jacqueline R.; Lee, Seung Hun; Nguyen, Tuan V.; Kwok, Timothy C.Y.; Lee, Jenny S.W.; Ho, Suzanne C.; Woo, Jean; Leung, Ping-C.; Kim, Beom-Jun; Rafnar, Thorunn; Kiemeney, Lambertus A.; Ingvarsson, Þorvaldur; Koh, Jung-Min; Tang, Nelson L.S.; Eisman, John A.; Christiansen, Claus; Sigurdsson, Gunnar; Thorsteinsdottir, Unnur; Stefansson, Kari (Springer Science and Business Media LLC, 2016-01-06)
    Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found ...