화학공학소재연구정보센터
검색결과 : 8건
No. Article
1 Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Jonsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K
Nature, 549(7673), 519, 2017
2 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, BragiWalters G, 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
Nature, 497(7450), 517, 2013
3 A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S, Stefansson H, Sulem P, Gudbjartsson D, Maloney J, Hoyte K, Gustafson A, Liu YC, Lu YM, Bhangale T, Graham RR, Huttenlocher J, Bjornsdottir G, Andreassen OA, Jonsson EG, Palotie A, Behrens TW, Magnusson OT, Kong A, Thorsteinsdottir U, Watts RJ, Stefansson K
Nature, 488(7409), 96, 2012
4 Rate of de novo mutations and the importance of father's age to disease risk
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WSW, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K
Nature, 488(7412), 471, 2012
5 The structure of a biosynthetic intermediate of pyrroloquinoline quinone (PQQ) and elucidation of the final step of PQQ biosynthesis
Magnusson OT, Toyama H, Saeki M, Schwarzenbacher R, Klinman JP
Journal of the American Chemical Society, 126(17), 5342, 2004
6 S-Adenosylmethionine: A wolf in sheep's clothing, or a rich man's adenosylcobalamin?
Frey PA, Magnusson OT
Chemical Reviews, 103(6), 2129, 2003
7 Synthesis and characterization of 3 ',4 '-anhydroadenosylcobalamin: A coenzyme B-12 analogue with unusual properties
Magnusson OT, Frey PA
Journal of the American Chemical Society, 122(37), 8807, 2000
8 Spectroscopic evidence for the participation of an allylic analogue of the 5 '-deoxyadenosyl radical in the reaction of lysine 2,3-aminomutase
Magnusson OT, Reed GH, Frey PA
Journal of the American Chemical Society, 121(41), 9764, 1999