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A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E. Praetorius C, et al. Among authors: bergsteinsdottir k. Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022. Cell. 2013. PMID: 24267888 Free PMC article.
miR-148 regulates Mitf in melanoma cells.
Haflidadóttir BS, Bergsteinsdóttir K, Praetorius C, Steingrímsson E. Haflidadóttir BS, et al. Among authors: bergsteinsdottir k. PLoS One. 2010 Jul 14;5(7):e11574. doi: 10.1371/journal.pone.0011574. PLoS One. 2010. PMID: 20644734 Free PMC article.
The role of MITF phosphorylation sites during coat color and eye development in mice analyzed by bacterial artificial chromosome transgene rescue.
Bauer GL, Praetorius C, Bergsteinsdóttir K, Hallsson JH, Gísladóttir BK, Schepsky A, Swing DA, O'Sullivan TN, Arnheiter H, Bismuth K, Debbache J, Fletcher C, Warming S, Copeland NG, Jenkins NA, Steingrímsson E. Bauer GL, et al. Among authors: bergsteinsdottir k. Genetics. 2009 Oct;183(2):581-94. doi: 10.1534/genetics.109.103945. Epub 2009 Jul 27. Genetics. 2009. PMID: 19635938 Free PMC article.
Novel MITF targets identified using a two-step DNA microarray strategy.
Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E. Hoek KS, et al. Among authors: bergsteinsdottir k. Pigment Cell Melanoma Res. 2008 Dec;21(6):665-76. doi: 10.1111/j.1755-148X.2008.00505.x. Pigment Cell Melanoma Res. 2008. PMID: 19067971
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K. Styrkarsdottir U, et al. Among authors: bergsteinsdottir k. Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5. Nature. 2013. PMID: 23644456
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