ライフサイエンスコーパス: gain-of-function mutant

1 ated forms of RPGR can behave as a dominant, gain-of-function mutant.

2 prone mouse models by overexpressing a PCSK9 gain-of-function mutant.

3 ve identified extragenic suppressors of this gain-of-function mutant.

4 that the autoimmune-predisposing allele is a gain-of-function mutant.

5 We identified 37 loss of function and 23 gain of function mutants.

6 opening and pathogen resistance in loss- and gain-of-function mutants.

7 a series of receptor chimeras and loss- and gain-of-function mutants.

8 attachment is impaired in both fra loss- and gain-of-function mutants.

9 to sleep loss is observed with Notch(spl-1) gain-of-function mutants.

10 icating that these T-DNA insertion lines are gain-of-function mutants.

11 opposite to the exposed surfaces containing gain-of-function mutants.

12 p53 gain-of-function mutant 273H and PARP1 interact with rep

13 ut complication from bound agonist, we use a gain of function mutant (a(1)L9'TB(2)y(2L)) directly act

14 the accelerated senescence phenotype of the gain-of-function mutant abs3-1D, AUXIN RESPONSE FACTOR 2

15 The previously reported Arabidopsis dominant gain-of-function mutant accelerated cell death6-1 (acd6-

16 The gain-of-function mutant allele chs3-2D exhibits severe d

17 A dominant, gain-of-function mutant allele of PDR13 was isolated and

18 nic potential of a cdc25 gene, we identify a gain-of-function mutant allele of the Caenorhabditis ele

19 previously reported that transfection of p53 gain of function mutant alleles into LNCaP, an androgen-

20 However, both Rht-B1b and Rht-D1b are gain-of-function mutant alleles encoding gibberellin sig

21 the overexpression of wild-type TC10 or the gain-of-function mutant alone enhanced the saturation de

22 Using these gain-of-function mutants and existing reduction-of-funct

23 The atfs-1 gain-of-function mutants are also resistant to ibandrona

24 Consistently, unc-58 gain-of-function mutants are hypercontracted, unlike the

25 gh frequency in hypermutated libraries, (ii) gain-of-function mutants are well represented in such li

26 1(+/-)), and high beclin 1 activity (knockin gain-of-function mutant Becn1, Becn1(FA)).

27 bnormal chloroplast development, whereas the gain-of-function mutant, bin2-1, exhibits insensitivity

28 The gain-of-function mutants bound vWf spontaneously and had

29 ls, we found that expression of wild-type or gain-of-function mutant BTK, but not the R28C mutant, re

30 A gain-of-function mutant, Btk*, induces the growth of fib

31 tivation T-DNA tagging can generate dominant gain-of-function mutants by overexpression of a particul

32 ted ScxCre;Ca(V) 1.2(TS) mice that express a gain-of-function mutant Ca(V) 1.2 in tendon.

33 A gain-of-function mutant called Btk* containing E41 to K

34 polar residues at positions 388 and 391 are gain-of-function mutants capable of transporting SO4 as

35 clones tested there were seven constitutive gain-of-function mutants carrying eight independent muta

36 Gain-of-function mutants cause heritable skeletal dyspla

37 t resistant to gamma radiation, such as Nrf2 gain-of-function mutant cells, were sensitive to alpha-p

38 ation, resulting in persistent expression of gain-of-function mutant channels during neuronal differe

39 In contrast, the gain of function mutant CheZ-I21T with an amino acid sub

40 of variants incompatible with AAP2 creates a gain-of-function mutant compatible with AAP2.

41 promoter occupancy appears pivotal because a gain of function mutant CREB polypeptide with increased

42 trast, ectopic expression of a murine Ctnnb1 gain-of-function mutant (Ctnnb1(cGOF)) retards corneal e

43 ein levels in the liver, mice expressing the gain-of-function mutant D374Y secrete more triglyceride

44 A gain-of-function mutant, D374Y, displayed greatly increa

45 Finally, inspired by the most active gain-of-function mutant, D374Y, we evaluated the LDLR de

46 Prior phenotypic analyses of this gain-of-function mutant demonstrated a reduced longevity

47 and molecular characterization of loss- and gain-of-function mutants demonstrated that MpMYCs are ne

48 We isolated a semidominant, gain-of-function mutant, designated pdr9-1, that exhibit

49 host DNA repair as their individual loss- or gain-of-function mutants did not significantly affect th

50 of syd-2 function led to smaller DPs, syd-2 gain-of-function mutants displayed larger ribbonlike DPs

51 r genes that are required for signaling by a gain-of-function mutant Drosophila RTK Torso (Tor).

52 ulates to substantially higher levels in the gain-of-function mutants, due to the insertion of a tran

53 While ET receptor gain-of-function mutant ein4-1 attracted more SCN than t

54 s organ and the optic lobe, of tll loss- and gain-of-function mutant embryos reveals that tll functio

55 The p53 172R-H gain-of-function mutant (equivalent to the common 175R-H

56 Moreover, R175H gain-of-function mutant expands the mammary epithelial s

57 The LEC11 Chinese hamster ovary (CHO) gain-of-function mutant expresses an alpha(1,3)fucosyltr

58 Enhanced growth of a Thalassiora pseudonana gain-of-function mutant expressing FcR1 under iron limit

59 Gain-of-function mutants (expressing the Q205L activatin

60 The gain of function mutant F80W:V21K also shows a shifted f

61 ) in flk-null mutants and in distal rod gene gain-of-function mutants (flgG* mutants) that produce fi

62 shb1-D, a gain-of-function mutant, flowered early and shb1, a loss

63 o investigate the source of convulsions in a gain-of-function mutant for the acetylcholine receptor A

64 Furthermore, expressing loss- or gain-of-function mutant forms of the G protein Galpha(s)

65 erformed a forward genetic screen to isolate gain-of-function mutants from an egress-deficient cdpk3

66 Interestingly, STING gain-of-function mutants from patients interacted strong

67 tly indispensable for cell division, an FtsA gain-of-function mutant FtsA* (R286W) can bypass the Zip

68 tion of the proto-ring component FtsA or its gain-of-function mutant FtsA* does not result in FtsZ pr

69 Unlike wild-type Ran, the putative gain-of-function mutant (G19V Ran) was not sensitive to

70 An MscK gain-of-function mutant gates spontaneously in the prese

71 Smooth muscle-specific expression of Kir6.1 gain-of-function mutant (GoF) subunits results in profou

72 Here we present a new Arabidopsis gain-of-function mutant, gun6-1D, with a similar phenoty

73 Five of 20 gain-of-function mutants had promiscuous activity, being

74 One such gain-of-function mutant has a Y458H substitution at the

75 y inhibited in loss-of-function mutants, and gain-of-function mutants have perturbed tooth morphology

76 advantage of this insight, we then create a "gain-of-function" mutant HC/B by replacing two nonaromat

77 morphologically mimics that of a RAS/let-60 gain-of-function mutant (i.e., small oocyte phenotype).

78 Finally, we demonstrate that the Rad51 gain-of-function mutant I345T dissociates from DNA with

79 ting Th17 responses against Candida, a STAT1 gain-of-function mutant impedes antigen-specific T cell

80 We show that this mutation is a gain of function mutant in chicken cells; it disrupts pr

81 ining all seven sites (hhp2-7A) behaved as a gain-of-function mutant in the mitotic checkpoint and al

82 We have isolated a collection of gain-of-function mutants in 22 positions within the cata

83 Loss- and gain-of-function mutants in A. thaliana were studied.

84 n mutants and 168 prostate cancer-associated gain-of-function mutants in AR were found.

85 oduce different phenotypes when expressed as gain-of-function mutants in cells.

86 We identify gain-of-function mutants in EXO70 that potently suppress

87 rg-28 suppressed phenotypic defects of slo-1 gain-of-function mutants in locomotion, neurotransmitter

88 exhibit identical innate immune responses to gain-of-function mutants in the Drosophila JAK/STAT path

89 a proliferating cell model to identify such gain-of-function mutants in the epidermal growth factor

90 s-of-function mutants in the anterior and ci gain-of-function mutants in the posterior.

91 Among those variants, we discover loss- and gain-of-function mutants in the Tudor domain of the DDR

92 e D388C, D388V, or D388K/K391C variants) are gain-of-function mutants in which phosphoenolpyruvate, n

93 04P and MPLY591N revealed that they are weak gain-of-function mutants increasing MPL signaling and co

94 Analysis of these gain-of-function mutants indicates that the different co

95 SHF-derived cardiac defects occurred in TBX1 gain-of-function mutants, indicating that appropriate le

96 The precise mechanism of action of these gain-of-function mutants is not well understood, and has

97 DHP-103 inhibited gain-of-function mutant K(Ca)3.1 channels that cause her

98 We found that the gain-of-function mutant, K237V, rolled very slowly and c

99 ull translocation activity was obtained in a gain of function mutant (LamB*) in which three hydrophob

100 pression of a Parkinson's disease-associated gain-of-function mutant LRRK2 inhibited the uncoating of

101 determined the mechanism by which this FOXN1 gain-of-function mutant mediates its dominant negative e

102 ssing oncogenically activated Ras as well as gain-of-function mutant MEK (MAPK/extracellular signal-r

103 al Numb domain, and the respective loss- and gain-of-function mutant mice share phenotypic similariti

104 s functional hyperemia in EC-specific Piezo1 gain-of-function mutant mice suffering impaired blood fl

105 Without agonist stimulation, the ECL2 in the gain of function mutant N111G assumed a lid conformation

106 Wild-type PLB (WT-PLB) and two gain-of-function mutants, N27A-PLB and I40A-PLB, showed

107 he molecular lesion associated with a strong gain-of-function mutant of Brd suggested that the loss o

108 Transcription activated by a gain-of-function mutant of FlbD (FlbD-1204) that is acti

109 ation of target disulfides of PDI leads to a gain-of-function mutant of HRG that promotes its activit

110 terization of tnp shows that it represents a gain-of-function mutant of LEAFY COTYLEDON1 (LEC1), due

111 the spontaneous nodulation associated with a gain-of-function mutant of MtCCaMK (T271A), revealing th

112 el: HIV-infected humanized mice expressing a gain-of-function mutant of proprotein convertase subtili

113 Using a dominant gain-of-function mutant of the erk2 gene, we show that d

114 yield in Arabidopsis bzr1-1D (AtBZR1(P234L), gain-of-function mutant of the important transcription f

115 We describe a unique gain-of-function mutant of the TATA-binding protein (TBP

116 We used the GFP-SsrA reporter to isolate gain-of-function mutants of a Tat-specific leader peptid

117 These data indicate that FAD-APPs are gain-of-function mutants of APP695 that negatively regul

118 Loss- and gain-of-function mutants of BBX31 indicate that it acts

119 These gain-of-function mutants of BHRF1 cooperate more efficie

120 Loss-of-function and gain-of-function mutants of BIM1 and its close family me

121 sing constitutively active Notch1 and/or two gain-of-function mutants of E proteins that counteract I

122 Here, we used selective loss- or gain-of-function mutants of estrogen receptor alpha (ERa

123 Loss-of-function and gain-of-function mutants of HAT1 display altered BR resp

124 Analysis of loss- and gain-of-function mutants of JMJ30 indicates that this ev

125 Gain-of-function mutants of luteinizing hormone (LH) and

126 factor c-MYC through its kinase activity and gain-of-function mutants of p53 in a kinase-independent

127 Gain-of-function mutants of Ras and Rho family small GTP

128 Conversely, gain-of-function mutants of SHP-2 enhanced FGF-2-mediate

129 n, whereas cells overexpressing wild-type or gain-of-function mutants of SHP-2 exhibited dampened act

130 lamellocytes, an activated subset present in gain-of-function mutants of the Janus kinase and Toll pa

131 idely as an agonist for the investigation of gain-of-function mutants of the nicotinic acetylcholine

132 Ab604.107 exhibited higher affinity for the "Gain-of-function" mutants of Notch1 NRR associated with

133 r of deletion alleles, as well as a putative gain-of-function mutant, of PEZO-1 caused a severe reduc

134 between p73 spliced forms and suppression of gain of function mutant p53 may elicit changes in the tr

135 Specifically, gain of function mutant p53 promotes cancer cell motilit

136 The gain-of-function mutant p53 (mtp53) transcriptome has be

137 res these unexpected properties by enhancing gain-of-function mutant p53 (mut-p53) protein levels.

138 cells expressing either dominant-negative or gain-of-function mutant p53 genes.

139 date whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knocked down i

140 ly, p73beta elicited a silencing effect on a gain of function mutant, p53(281), which by itself media

141 However, like certain p53 gain-of-function mutants, p53Psi attenuates the expressi

142 Similarly, a catalytic-dead version of a gain-of-function mutant, PCSK9(D374Y), showed no loss of

143 vity was approximately 10-fold greater for a gain-of-function mutant, PCSK9(D374Y), that causes hyper

144 er treatment, especially in patients bearing gain of function mutant PI3K activity.

145 HCT116 cells are heterozygous for gain of function mutant PIK3CA H1047R.

146 The T-DNA insertional gain-of-function mutant plant for LTP5 (ltp5-1) exhibite

147 enesis with proinsulin, we also identified a gain of function mutant (proinsulin Leu-17 --> Pro) that

148 as Huntington's disease (HD) are caused by a gain of function mutant protein and/or RNA.

149 Moreover, behaviors of slo-1 gain-of-function mutants resemble those of ethanol-intox

150 scanning of human TAPBPR further identifies gain-of-function mutants, resembling the chicken sequenc

151 Furthermore, overexpression of WT SPCA1 or a gain-of-function mutant resulted in a decrease in cytopl

152 g wild-type GP Ibalpha, cells expressing the gain-of-function mutants rolled significantly more slowl

153 ons of wild-type RTK, whereas the effects of gain-of-function mutant RTK additionally require STAT ac

154 Using putative "gain of function" mutants (serine to aspartate) serines

155 Both loss of function and gain of function mutants show the response is mediated b

156 In barley, secondary mutations in the DELLA gain-of-function mutant Sln1d (4) also uncoupled meriste

157 ses, and it interacts synergistically with a gain-of function mutant snc1-1 and a bon1-1 mutant where

158 ght-signaling components, we have isolated a gain-of-function mutant, sob1-D (suppressor of phytochro

159 gical basis for I-SFN, whereby expression of gain of function mutant sodium channels in small diamete

160 ipA, a property previously observed for FtsA gain-of-function mutants such as FtsA* or increased leve

161 oethanol and did not occur in a cysteineless gain-of-function mutant, suggesting that the signature-e

162 Deletion mutants lacking this domain are gain-of-function mutants, suggesting that the domain mod

163 rmore, overexpression of wild-type TC10 or a gain-of-function mutant (TC10Q76L) greatly enhanced the

164 wing that it binds with higher affinity to a gain-of-function mutant than to either wild-type I domai

165 94) and Ser(498) to glutamic acid produced a gain of function mutant that had increased activity at l

166 ptide libraries resulted in isolation of six gain-of function mutants that conferred significantly hi

167 serine 287 with alanine (S287A) generated a gain-of-function mutant that enhanced the biological eff

168 A FIT2 gain-of-function mutant that formed larger LDs, FLL(157-

169 A Kit/SCF-R gain-of-function mutant that has increased mitogenic and

170 Here, we describe the isolation of TnsC gain-of-function mutants that activate the TnsA+B transp

171 ion by isolation and analysis of transposase gain-of-function mutants that are active in the absence

172 ive site crossover loop, we have constructed gain-of-function mutants that can accept substrates that

173 of looping-defective GalR mutants as well as gain-of-function mutants that permit repressosome assemb

174 This screen identified multiple "gain-of-function" mutants that were "resistant" to the P

175 Unlike the alpha7 L248T gain-of-function mutant, the T6'S mutant exhibits a phar

176 oss-of-function mutants and insensitivity of gain-of-function mutants to MG132 suggests that receptor

177 arelle (mrl; DStat92E), is essential for the gain-of-function mutant Tor (Tor(GOF)) to activate ectop

178 EGFR gain-of-function mutant tumours are also sensitive to du

179 channel and two experimentally characterized gain-of-function mutants, V21A and Q51E.

180 poptosis, with loss-of-function and chimeric gain-of-function mutants, we have demonstrated that tran

181 Using both lack-of-function and gain-of-function mutants, we here report that the confor

182 te bursts of openings in naturally occurring gain-of-function mutants (which cause slow-channel conge

183 napses, indicating that Munc13-1(H567K) is a gain-of-function mutant, which conformationally mimics t

184 Arabidopsis plants, we isolated a dominant, gain-of-function mutant with reduced anthocyanins.

185 e genes in living bacteria, and screened for gain-of-function mutants with hampered growth.

186 in the histone acetylation reader ENL create gain-of-function mutants with increased transcriptional

187 control mechanisms, but overexpression of a gain-of-function mutant (Yap1-5SA) elicited cell cycle e

188 A gain-of-function mutant (ZmPRO1-Y6F) was created and fou