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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.
Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E. Gamage TH, et al. Cell Calcium. 2018 Dec;76:87-100. doi: 10.1016/j.ceca.2018.10.001. Epub 2018 Oct 5. Cell Calcium. 2018. PMID: 30390422 Free PMC article.
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.
Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E. Gamage TH, et al. Sci Signal. 2023 Feb 7;16(771):eadd0509. doi: 10.1126/scisignal.add0509. Epub 2023 Feb 7. Sci Signal. 2023. PMID: 36749824
A child with mosaicism for deletion (14)(q11.2q13).
Gamage TH, Godapitiya IU, Nanayakkara S, Jayasekara RW, Dissanayake VH. Gamage TH, et al. Indian J Hum Genet. 2012 Jan;18(1):130-3. doi: 10.4103/0971-6866.96684. Indian J Hum Genet. 2012. PMID: 22754240 Free PMC article.