ライフサイエンスコーパス: gain-of-function mutant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

27 Gain-of-function mutants cause heritable skeletal dyspla

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

66 04P and MPLY591N revealed that they are weak gain-of-function mutants increasing MPL signaling and co

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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