共 50 条
- [1] Novel loss-of-function mutations in the upper surface of β-propeller structure of the integrin αIIb subunit.BLOOD, 2001, 98 (11) : 518A - 519ATamura, THato, TYamanouchi, JYasukawa, MFujita, S
- [2] NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutationsNEUROLOGY, 2016, 87 (11) : 1131 - 1139Bend, Eric G.Si, YueStevenson, David A.Bayrak-Toydemir, PinarNewcomb, Tara M.Jorgensen, Erik M.Swoboda, Kathryn J.
- [3] Analysis of sperm galactosyltransferase through gain-of-function and loss-of-function mutationsMOLECULAR BIOLOGY OF THE CELL, 1998, 9 : 7A - 7AShur, BLu, QXShi, XDParuchuru, KMiller, D
- [4] Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function MutationsGENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (04) : 533 - 537Flanagan, Sarah E.Patch, Ann-MarieEllard, Sian
- [5] Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease MutationsBLOOD, 2019, 134Katsumura, Koichi RicardoLiu, PengMehta, CharuHewitt, Kyle J.Soukup, Alexandrade Andrade, Isabela J. FragaRanheim, Erik A.Johnson, Kirby D.Bresnick, Emery H.
- [6] Prediction of gain-of-function and loss-of-function mutations using In Silico Bioinformatics ToolsEXPERIMENTAL DERMATOLOGY, 2018, 27 (03) : E41 - E41Ghosh, A.Navarini, A.
- [7] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersHUMAN MOLECULAR GENETICS, 2018, 27 (08) : 1421 - 1433Mizuguchi, TakeshiNakashima, MitsukoKato, MitsuhiroOkamoto, NobuhikoKurahashi, HirokazuEkhilevitch, NinaShiina, MasaakiNishimura, GenShibata, TakashiMatsuo, MuneakiIkeda, TaeOgata, KazuhiroTsuchida, NaomiMitsuhashi, SatomiMiyatake, SatokoTakata, AtsushiMiyake, NorikoHata, KenichiroKaname, TadashiMatsubara, YoichiSaitsu, HirotomoMatsumoto, Naomichi
- [8] JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional ConsequencesJournal of Clinical Immunology, 2023, 43 : 1326 - 1359Nils OttLaura FalettiMaximilian HeegVirginia AndreaniBodo Grimbacher
- [9] Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structureNATURE COMMUNICATIONS, 2022, 13 (01)Gerasimavicius, LukasLivesey, Benjamin J.Marsh, Joseph A.
- [10] JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional ConsequencesJOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1326 - 1359Ott, NilsFaletti, LauraHeeg, MaximilianAndreani, VirginiaGrimbacher, Bodo