A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation

Autor: Yaddehi Gamage, Thilini Hansamali Gamage, Grabmayr, Herwig, Horvath, Ferdinand, Fahrner, Marc, Misceo, Doriana, Louch, William Edward, Gunnes, Gjermund, Pullisaar, Helen, Reseland, Janne Elin, Lyngstadaas, Ståle Petter, Holmgren, Asbjørn, Amundsen, Silja Svanstrøm, Rathner, Petr, Cerofolini, Linda, Ravera, Enrico, Krobath, Heinrich, Luchinat, Claudio, Renger, Thomas, Müller, Norbert, Romanin, Christoph, Frengen, Eirik

Externí odkaz: https://hdl.handle.net/11250/3119523

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice

Autor: Yaddehi Gamage, Thilini Hansamali Gamage, Gunnes, Gjermund, Lee, Robert Hugh, Louch, William Edward, Holmgren, Asbjørn, Bruton, Joseph D., Lengle, Emma, Kolstad, Terje R Selnes, Revold, Tobias, Amundsen, Silja Svanstrøm, Dalen, Knut Tomas, Holme, Pål Andre, Tjønnfjord, Geir Erland, Christensen, Geir Arve, Westerblad, Håkan, Klungland, Arne, Bergmeier, Wolfgang, Misceo, Doriana, Frengen, Eirik

Publikováno v: Yaddehi Gamage, Thilini Hansamali Gamage Gunnes, Gjermund Lee, Robert Hugh Louch, William Edward Holmgren, Asbjørn Bruton, Joseph D. Lengle, Emma Kolstad, Terje R Selnes Revold, Tobias Amundsen, Silja Svanstrøm Dalen, Knut Tomas Holme, Pål Andre Tjønnfjord, Geir Erland Christensen, Geir Arve Westerblad, Håkan Klungland, Arne Bergmeier, Wolfgang Misceo, Doriana Frengen, Eirik . STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium. 2018, 76, 87-100
Cell Calcium

Externí odkaz: http://hdl.handle.net/10852/66394
https://www.duo.uio.no/bitstream/handle/10852/66394/2/Gamage_Stim1%2BR304W%2Bmouse_manuscript_W_Corrections.pdf

A comprehensive screen for SNP associations on chromosome region 5q31–33 in Swedish/Norwegian celiac disease families.

Autor: Amundsen, Silja Svanstrøm¹ s.s.amundsen@medisin.uio.no, Adamovic, Svetlana², Hellqvist, Åsa², Nilsson, Staffan^3,4, Gudjónsdóttir, Audur H.⁵, Ascher, Henry^5,6, Ek, Johan⁷, Larsson, Kristina⁸, Wahlström, Jan², Lie, Benedicte A.⁹, Sollid, Ludvig M.^1,9, Naluai, Åsa Torinsson^2,4

Publikováno v: European Journal of Human Genetics. Sep2007, Vol. 15 Issue 9, p980-987. 8p. 1 Chart, 2 Graphs.

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Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

Autor: Tønne E; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Norwegian National Unit for Craniofacial Surgery, Oslo University Hospital, Oslo, Norway., Due-Tønnessen BJ; Norwegian National Unit for Craniofacial Surgery, Oslo University Hospital, Oslo, Norway.; Department of Neurosurgery, Oslo University Hospital, Oslo, Norway., Vigeland MD; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Amundsen SS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Ribarska T; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Åsten PM; TAKO Centre, Lovisenberg Diakonale Hospital, Oslo, Norway., Sheng Y; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Helseth E; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Neurosurgery, Oslo University Hospital, Oslo, Norway., Gilfillan GD; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Heimdal KR; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Norwegian National Unit for Craniofacial Surgery, Oslo University Hospital, Oslo, Norway.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1464-1475. Date of Electronic Publication: 2022 Jan 25.