共 50 条
- [31] PDGFRA alterations in cancer: characterization of a gain-of-function V536E transmembrane mutant as well as loss-of-function and passenger mutationsONCOGENE, 2014, 33 (20) : 2568 - 2576Velghe, A. I.Van Cauwenberghe, S.Polyansky, A. A.Chand, D.Montano-Almendras, C. P.Charni, S.Hallberg, B.Essaghir, A.Demoulin, J-B
- [32] Loss-of-function mutations identified in the Helical domain of the G protein α-subunit, Gα2, of Dictyostelium discoideumBIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2005, 1722 (03): : 262 - 270Gundersen, REYou, JXRauch, SFarnham, KMcCarty, CWillis, NPrince, A
- [33] Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the HeartCURRENT ISSUES IN MOLECULAR BIOLOGY, 2024, 46 (11) : 12886 - 12910Paudel, RoshanJafri, Mohsin SaleetUllah, Aman
- [34] Structure-function of the putative I-domain within the integrin β2 subunitJOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (22) : 19340 - 19349Xiong, YMZhang, L
- [35] Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathiesNature Communications, 13Nathan L. AbsalomVivian W. Y. LiaoKatrine M. H. JohannesenElena GardellaJulia JacobsGaetan LescaZeynep Gokce-SamarAlexis ArzimanoglouShimriet ZeidlerPasquale StrianoPierre MeyerIra Benkel-HerrenbrueckInger-Lise MeroJutta RummelMary ChebibRikke S. MøllerPhilip K. Ahring
- [36] Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathiesNATURE COMMUNICATIONS, 2022, 13 (01)Absalom, Nathan L.Liao, Vivian W. Y.Johannesen, Katrine M. H.Gardella, ElenaJacobs, JuliaLesca, GaetanGokce-Samar, ZeynepArzimanoglou, AlexisZeidler, ShimrietStriano, PasqualeMeyer, PierreBenkel-Herrenbrueck, IraMero, Inger-LiseRummel, JuttaChebib, MaryMoller, Rikke S.Ahring, Philip K.
- [37] Mutations at position 1122 in the catalytic domain of the mouse ras-specific guanine nucleotide exchange factor CDC25Mm originate both loss-of-function and gain-of-function proteinsFEBS LETTERS, 1998, 440 (03) : 291 - 296Carrera, VMoroni, AMartegani, EVolponi, CCool, RHAlberghina, LVanoni, M
- [38] Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN productionJOURNAL OF CLINICAL INVESTIGATION, 2015, 125 (11): : 4196 - 4211Brehm, AnjaLiu, YinSheikh, AfzalMarrero, BernadetteOmoyinmi, EbunZhou, QingMontealegre, GinaBiancotto, AngeliqueReinhardt, Adamde Jesus, Adriana AlmeidaPelletier, MartinTsai, Wanxia L.Remmers, Elaine F.Kardava, LelaHill, SuvimolKim, HannaLachmann, Helen J.Megarbane, AndreChae, Jae JinBrady, JilianCastillo, Rhina D.Brown, DianeVera Casano, AngelGao, LingChapelle, DawnHuang, YanStone, DeborahChen, YongqingSotzny, FranziskaLee, Chyi-Chia RichardKastner, Daniel L.Torrelo, AntonioZlotogorski, AbrahamMoir, SusanGadina, MassimoMcCoy, PhilWesley, RobertRother, KristinaHildebrand, Peter W.Brogan, PaulKrueger, ElkeAksentijevich, IvonaGoldbach-Mansky, Raphaela
- [39] A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutationsHAEMATOLOGICA, 2018, 103 (06) : E259 - E263Bury, LoredanaZetterberg, EvaLeinoe, Eva B.Falcinelli, EmanuelaMarturano, AlessandroManni, GiorgiaNurden, Alan T.Gresele, Paolo
- [40] Loss-of-Function and Gain-of-Function Mutations of Calcium-Sensing Receptor: Functional Analysis and the Effect of Allosteric Modulators NPS R-568 and NPS 2143JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (10): : E1692 - E1701Nakamura, AkieHotsubo, TomoyukiKobayashi, KeijiMochizuki, HiroshiIshizu, KatsuraTajima, Toshihiro