ライフサイエンスコーパス: dominant-negative mutation

1 eptor function has been abrogated by a trans-dominant negative mutation.

2 is acting as a gain-of-function, rather than dominant negative mutation.

3 ievable by wild-type K14 in the absence of a dominant negative mutation.

4 also mapped to the sfgA locus, suggesting a dominant negative mutation.

5 a 9-fold increase in mice with only the p53 dominant negative mutation.

6 use a deletion within that domain acted as a dominant-negative mutation.

7 rs to be the first subtype of FA caused by a dominant-negative mutation.

8 enys-Drash syndrome is generally caused by a dominant-negative mutation.

9 rved amino acid and behaves genetically as a dominant-negative mutation.

10 as a loss-of-function mutation rather than a dominant-negative mutation.

11 g an alternate mechanism of action for these dominant negative mutations.

12 Serrate indicate that DlS and SerS behave as dominant negative mutations.

13 oB coding sequences containing activating or dominant negative mutations.

14 ith the wild-type N function and behave like dominant negative mutations.

15 owing the discovery of two patients carrying dominant-negative mutations.

16 nts, of whom 79 patients were positive for a dominant negative mutation (67.5%) and 38 for a mutation

17 expressing mutant helicases showed that the dominant negative mutations also altered pre-rRNA proces

18 K) by LY294002, but not inhibition of Akt by dominant-negative mutation, also sensitizes EC to cytoki

19 resentative of each subclass, by introducing dominant negative mutations analogous to those known to

20 ts demonstrate that abi1-1 is likely to be a dominant negative mutation and ABI1 likely acts downstre

21 ment of p300, unable to bind MyoD, acts as a dominant negative mutation and abrogates both myogenic c

22 Mice with a p53 dominant negative mutation and Ink4A/Arf heterozygous de

23 Interestingly, the dominant-negative mutations are all located at the extra

24 Two classes of dominant-negative mutations are described; the more domi

25 Interestingly, Cav-1 dominant-negative mutations are exclusively found in ERa

26 cument an exponential increase in the use of dominant-negative mutations as tools for the experimenta

27 correction of both compound heterozygous and dominant negative mutations associated with genetic dise

28 rP(23-231), hereafter recMoPrP) expressing a dominant-negative mutation at codon 218 (recMoPrP(Q218K)

29 We hypothesized that similar to dominant-negative mutations, atypical mutations could le

30 Finally, a CPEB protein that acts as a dominant negative mutation because it cannot be phosphor

31 ore, we provide evidence that TASK3G95E is a dominant-negative mutation, because coexpression of the

32 combination with D4Z4 repeat array size with dominant negative mutations being more deleterious than

33 ver, when implemented in transgenic animals, dominant-negative mutations boast certain advantages ove

34 ive RAS-like mutations caused neonatal SCID, dominant-negative mutations caused LAD-like disease, whe

35 either through loss of function mutations or dominant-negative mutations, disrupts salivary gland inv

36 rofacial development and are consistent with dominant-negative mutations disturbing development of th

37 Neuronal expression of the dominant negative mutation Drac1(N17) causes axons to by

38 By reporting the first dominant negative mutation driving ORAS, this study expa

39 bition of TAK1 in mice by a cardiac-specific dominant-negative mutation evokes electrophysiological a

40 raise the possibility that the pathogenic or dominant negative mutations exert their effects on some

41 tional corepressors and that tpl-1 acts as a dominant negative mutation for multiple TPL-related prot

42 The usefulness of dominant negative mutations for investigating Ras and ot

43 Consequently, KI mice with dominant negative mutations had much less wild-type rece

44 units, whereas mice homozygous for an Ikaros dominant negative mutation have no measurable activity.

45 dities resulting from haploinsufficiency and dominant negative mutations, however, have not been comp

46 Importantly, cells expressing a dominant negative mutation in BACH1 that results in a de

47 We report here the first dominant negative mutation in KCNQ2 that has a phenotype

48 Here, we show that a dominant negative mutation in the gene encoding the mito

49 Here, we developed mice that carry a dominant negative mutation in the KCNQ5 pore to probe wh

50 We report discovery of a dominant negative mutation in the NIPA1 gene in a kindre

51 independently as a multicopy suppressor of a dominant negative mutation in the TATA-binding protein a

52 Patients with AD-HIES have a dominant negative mutation in their STAT3 gene which ren

53 Mice selectively expressing PPARgamma dominant negative mutation in vascular smooth muscle exh

54 Dominant negative mutations in fadR were generated by ra

55 brates and vertebrates; loss of function and dominant negative mutations in GSK-3 beta lead to activa

56 Temperature-sensitive-for-function (tsf) and dominant negative mutations in PEP12, encoding a putativ

57 e embryos is not affected by the presence of dominant negative mutations in TAFII110 or TAFII60.

58 Dominant negative mutations in the C. elegans RhoA GTPas

59 confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin

60 how that the mutant phenotype is caused by a dominant-negative mutation in an actin gene.

61 n unbiased genetic screen, we characterize a dominant-negative mutation in histone H3 (H3(G13D)) that

62 om a patient with recurrent infections and a dominant-negative mutation in Rac2.

63 We hypothesized that a dominant-negative mutation in the DNA-dependent RNA poly

64 almonella infection, C3H/HeJ mice carrying a dominant-negative mutation in TLR4 exhibited delayed che

65 creased Al tolerance were found to represent dominant-negative mutations in a factor required for mon

66 Dominant-negative mutations in any of the four identifie

67 The analogous positions of the dominant-negative mutations in AphA and MarR confirm tha

68 val to pupal metamorphosis, and also enhance dominant-negative mutations in ecdysone receptor.

69 In contrast, loss-of-function dominant-negative mutations in human PPAR gamma cause in

70 lar ataxia type 13 (SCA13) patients carrying dominant-negative mutations in Kcnc3 and Kcnc3-null muta

71 Individuals with dominant-negative mutations in KCTD1/KCTD15 have sparse

72 f epidermolysis bullosa simplex is caused by dominant-negative mutations in keratins 5 and 14, which

73 yosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10.

74 Dominant-negative mutations in NtRab2 proteins inhibited

75 tural change induced by known recessive- and dominant-negative mutations in other disease-associated

76 condition is rare, the study of humans with dominant-negative mutations in PPAR-gamma can provide im

77 Human patients with dominant-negative mutations in PPARgamma display lipodys

78 Dominant-negative mutations in STAT3 result in reduced n

79 nt hyper-IgE syndrome (AD-HIES) is caused by dominant-negative mutations in STAT3; however, the molec

80 Recently, dominant-negative mutations in the C/EBPalpha gene and d

81 A subset of van der Woude cases is caused by dominant-negative mutations in the epithelial transcript

82 In the ameba, dominant-negative mutations in the Gal/GalNAc lectin aff

83 -blistering disorder predominantly caused by dominant-negative mutations in the genes encoding kerati

84 Dominant-negative mutations in the genes KCTD1 or KCTD15

85 The disorder is normally associated with dominant-negative mutations in the keratin 9 (K9) gene;

86 mmation and autoimmunity pathways, including dominant-negative mutations in the Notch1 regulators NUM

87 ly-onset hypertension in three patients with dominant-negative mutations in the nuclear hormone recep

88 e Ehlers-Danlos syndrome (vEDS) is caused by dominant-negative mutations in the procollagen type III

89 We postulated that dominant-negative mutations in these keratins might be t

90 pressed hTACI A181E and mTACI A144E acted as dominant-negative mutations in transfectants, homozygosi

91 nct mutations in the kinase domain behave as dominant-negative mutations in zebrafish over-expression

92 with familial AD (FAD) and a gamma-secretase dominant-negative mutation inhibit N-Cad/CTF2 production

93 inhibition of host cell Cdc42 activation by dominant negative mutation inhibited C. parvum-associate

94 r1p do not substitute for QSR1 but do act as dominant negative mutations, inhibiting the growth of ye

95 Forced expression of the dominant negative mutation inhibits epithelial different

96 f mammalian Rheb was explored by introducing dominant negative mutations into human Rheb.

97 ic mice expressing human WRN with a putative dominant-negative mutation (K577M-WRN).

98 symptoms reported for patients carrying the dominant-negative mutations L195V or 46Stop are not more

99 Dominant negative mutations likely inhibit endogenous sm

100 Here we have described a novel dominant-negative mutation, made in the background of a

101 cytes or other cells in the joint because of dominant-negative mutations might contribute to invasion

102 Recently, a dominant negative mutation of Rac2, D57N, has been repor

103 ns in phosphoglucomutase-3 (PGM3); Autosomal dominant negative mutations of STAT3 (STAT3); and age-ma

104 ozygous mice carrying the W (null) and W(v) (dominant negative) mutations of c-kit.

105 Expression of a dominant-negative mutation of an ERC-associated protein,

106 ls in a hanging drop culture with a putative dominant-negative mutation of papc disrupted the epithel

107 annel activity is decreased (by expressing a dominant-negative mutation of Shaker).

108 Using a dominant-negative mutation of TbSar1, we show that endop

109 nhibited by expression of Bcl-x(L) but not a dominant-negative mutation of the Fas-associated death d

110 Transgenic mice that overexpress a dominant-negative mutation of the TGF-beta type II recep

111 Four alleles of Cos1 appear to be dominant-negative mutations of a catalytic subunit of pr

112 Dominant-negative mutations of CEBPA have been found in

113 Dominant-negative mutations of KCNJ2 encoding the Kir2.1

114 A systematic screen for dominant-negative mutations of the CYT1 gene, which enco

115 For example, a dominant-negative mutation (P132L) in the Cav-1 gene has

116 , up to 16% of human breast cancers harbor a dominant-negative mutation, P132L, in the CAV-1 gene.

117 stitutively active mutation (Rac1Leu61) or a dominant negative mutation (Rac1Asn17) was expressed in

118 us in peritoneal Raw264.7 macrophages with a dominant negative mutation (SP-R210(DN)) blocking surfac

119 ess only one of the two groups of let-60 ras dominant negative mutations, suggesting that the gene ma

120 el in which missense PMEL variants represent dominant negative mutations that impair the ability of P

121 tants are catalytically defective and act as dominant negative mutations that interfere with growth f

122 report on a general strategy for engineering dominant negative mutations that, in principle, requires

123 We demonstrate that insertion of the dominant negative mutation to inhibit GDP/GTP exchange d

124 Employing cDNAs encoding dominant negative mutations, we demonstrated that Rac1 p

125 p53 transgenic mice carrying a dominant negative mutation were crossed with Ink4A/Arf h

126 nal deletion, transgenic (Tg) mice bearing a dominant negative mutation were produced.

127 his mutant was found to function as a strong dominant negative mutation when coexpressed with wild-ty

128 ith keratin genodermatoses have heterozygous dominant negative mutations, which are more disruptive t

129 a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 gen