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

12 oB coding sequences containing activating or dominant negative mutations.

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

14 g an alternate mechanism of action for these 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 rP(23-231), hereafter recMoPrP) expressing a dominant-negative mutation at codon 218 (recMoPrP(Q218K)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

49 Dominant negative mutations in fadR were generated by ra

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

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

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

53 Dominant negative mutations in the C. elegans RhoA GTPas

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

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

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

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

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

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

60 Dominant-negative mutations in any of the four identifie

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

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

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

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

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

66 Dominant-negative mutations in NtRab2 proteins inhibited

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

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

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

70 Dominant-negative mutations in STAT3 result in reduced n

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

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

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

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

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

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

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

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

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

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

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

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

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

84 Forced expression of the dominant negative mutation inhibits epithelial different

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

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

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

88 Dominant negative mutations likely inhibit endogenous sm

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

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

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

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

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

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

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

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

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

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

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

100 Dominant-negative mutations of CEBPA have been found in

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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