ライフサイエンスコーパス: neomorphic

1 tion were identified - dominant negative and neomorphic.

2 this normal function but a gain in a new or neomorphic ability to convert alphaKG to the oncometabol

3 mutation and provides molecular insight into neomorphic actions of emerging and/or mutant miRNAs.

4 proteins have a dominant gain-of-function or neomorphic activity in Xenopus, and that this is respons

5 These mutations confer a neomorphic activity of 2-hydroxyglutarate (2-HG) product

6 Neomorphic activity of mutant IDH2 proteins results in h

7 In all cases, neomorphic activity of the mutated enzyme leads to produ

8 transfer to drive improved conventional and neomorphic activity over R132H.

9 The mutant enzymes exhibit neomorphic activity resulting in production of D2-hydrox

10 y replacing its conventional activity with a neomorphic activity that generates an oncometabolite.

11 wild-type activity and confer to the mutant neomorphic activity that produces the oncometabolite 2-h

12 pted the stability of moesin and conferred a neomorphic activity to the protein, which converged on e

13 set of oncogenic driver mutations results in neomorphic activity where the mutant protein mediates fu

14 (FSHD) is caused by an unusual deletion with neomorphic activity.

15 protein with potential dominant negative or neomorphic activity.

16 The key distorter locus, Sd, is a dominant neomorphic allele encoding a truncated, but enzymaticall

17 In numerous assays, the neomorphic allele SMAD4(100T) appears to be capable of a

18 In the case of rho, we isolated a dominant neomorphic allele, which interferes with Notch signaling

19 ransduction defects, suggesting that it is a neomorphic allele.

20 veral genetic criteria that Lyra alleles are neomorphic alleles of senseless that cause ectopic expre

21 cs of the normal (isocitrate to alphaKG) and neomorphic (alphaKG to alphaHG) reactions, as well as th

22 is mutation causes the first human monogenic neomorphic and noncanonical inflammasomopathy/immunodefi

23 d to the suggestion that truncated APC bears neomorphic and/or dominant-negative function that suppor

24 hypermorphic for cytokine signaling but also neomorphic, as it enables signaling cascades not canonic

25 uggests that Mu suppression affects only the neomorphic aspect of the allele, not the wild-type aspec

26 Ceapins induce the neomorphic association of ER and peroxisomes by directly

27 link the selective pathology of CMT2D to the neomorphic binding activity of GlyRS(CMT2D) that antagon

28 Here we report that GlyRS(CMT2D) acquires a neomorphic binding activity that directly antagonizes an

29 to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence.

30 tably, cyclin A/Bi promoted the formation of neomorphic cyclin B-CDK2 complexes, which drive spindle

31 on of TyrRSDeltaE2-4 SV gave an alternative, neomorphic dimer interface 'orthogonal' to that of nativ

32 Seq employs two key DNA-modifying enzymes: a neomorphic DNA methyltransferase and a DNA deaminase cap

33 en the perspective to specifically block the neomorphic DNA-binding activities of a mutant TF.

34 in IGF-IR-stimulated cells promoted dramatic neomorphic effects characteristic of an epithelial-mesen

35 hydrogenase 1 and 2 (IDH1 and IDH2) confer a neomorphic enzymatic activity: the reduction of alpha-ke

36 emia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarat

37 emia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarat

38 ur in a number of human cancers and confer a neomorphic enzyme activity that catalyzes the conversion

39 drive human gliomagenesis, probably through neomorphic enzyme activity that produces D-2-hydroxyglut

40 First, dog skulls show unique (neomorphic) features already shortly after birth, and th

41 ion of IDH inhibitors to block the oncogenic neomorphic function of the mutated protein has resulted

42 on function, and which lead to complex-often neomorphic-functions of biological and therapeutic impor

43 loss-of-binding to canonical IRF motifs and neomorphic gain-of-binding to canonical and non-canonica

44 ed by missense mutations, are enigmatic, and neomorphic gain-of-function (GOF) activities have been i

45 several human congenital disorders(1-5), but neomorphic (gain-of-new-function) mutations in miRNAs du

46 cause osteogenesis imperfecta type XII, but neomorphic (gain-of-new-function) mutations of SP7 have

47 receptor 2 (FGFR2) fusions and one targeting neomorphic, gain-of-function variants of isocitrate dehy

48 n-transformed cells, we tested the effect of neomorphic IDH mutants on adipocyte differentiation in v

49 Together, these data demonstrate that neomorphic IDH2 mutations can be oncogenic in mesenchyma

50 Thus we have uncovered an unexpected, neomorphic insulin-sensitizing action for exogenous non-

51 Here, we identify that these neomorphic interactions are mediated by the HDAC deacety

52 iates the disease dominance when engaging in neomorphic interactions with pathogenic Galphao through

53 surface of cyclophilin A (CYPA) to create a neomorphic interface with high affinity and selectivity

54 The frequent occurrence of neomorphic isocitrate dehydrogenase 1 (IDH1) mutations i

55 uctures provide mechanistic understanding of neomorphic KBTBD4, while structure-activity relationship

56 nes developmental robustness and exacerbates neomorphic Kr[If-1]-induced ectopic eye outgrowths in th

57 stereotyped splicing alterations promoted by neomorphic, leukemia-associated somatic splicing machine

58 Together with their significantly decreased neomorphic ligase activity on IKZF1/3 and SALL4, these l

59 ts and the inherently negative regulation of neomorphic liguleless3 and rough sheath1 transcription.

60 Neomorphic missense mutations affecting crucial lysine r

61 Here we describe a de novo dominant neomorphic missense variant (c.926 C > G:p.S309W) in SP7

62 Our work uncovers the neomorphic molecular mechanism of mutations underlying p

63 ch is made more favorable for alphaKG by the neomorphic mutation at arginine 132.

64 ae that accumulate exogenous sterol due to a neomorphic mutation in the transcription factor, UPC2.

65 tion during enamel formation and suggested a neomorphic mutation mechanism causing ADHCAI.

66 This neomorphic mutation subtly alters the DNA-binding prefer

67 The SUM1-1 mutation is a dominant neomorphic mutation that enables the mutant protein to b

68 -base insertion in the marked gene created a neomorphic mutation.

69 Neomorphic mutations and drugs can elicit unanticipated

70 nanticipated phenotypic outcomes elicited by neomorphic mutations imply that tumors with the neomorph

71 osis syndromes, resulting from activating or neomorphic mutations in fibroblast growth factor recepto

72 Neomorphic mutations in IDH1 occur frequently in certain

73 Neomorphic mutations in isocitrate dehydrogenase 1 (IDH1

74 mice, implicating both loss of function and neomorphic mutations in its pathogenesis.

75 morphic mutations imply that tumors with the neomorphic mutations may not respond to therapies design

76 These neomorphic mutations, which can be found in both tumor s

77 cause severe neurite growth defects; and 3) neomorphic mutations, which map to the exterior surface,

78 transcriptional coregulators or TF harboring neomorphic mutations.

79 However, it is unknown whether mutant p53 neomorphic oncogenic functions exploit dysregulation of

80 r altered metabolism in oncogenesis, and the neomorphic, oncogenic function of IDH mutations affects

81 bin2 phenotypes were likely caused by either neomorphic or hypermorphic gain-of-function mutations in

82 lt dogs cannot simply be explained as either neomorphic or paedomorphic.

83 These results are consistent with a neomorphic origin of an ancestral A-Myb/c-Myb gene from

84 Such neomorphic p53 proteins are capable of dramatically alte

85 liguleless3 and rough sheath1, which exhibit neomorphic phenotypes in the leaves.

86 terminal and C-terminal GTPase domains cause neomorphic phenotypic effects that are likely unrelated

87 cer Cell, Cheung and colleagues describe two neomorphic PIK3R1 mutants prevalent in endometrial and c

88 h this divergence and found that most of the neomorphic positions in Galpha form a ring of residues c

89 y leukemia-initiating mutations can generate neomorphic pre-leukemic progenitors, defining the lineag

90 IDH2 R140, have been shown to result in the neomorphic production of 2HG.

91 tic observations led to the discovery of the neomorphic production of the oncometabolite (R)-2-hydrox

92 In contrast, SY242CS shows neomorphic properties that include the ability to open d

93 This process is a neomorphic property of EWS-FLI1 compared to wild-type FL

94 tions in the spliceosome gene SF3B1 create a neomorphic protein that produces aberrant mRNA splicing

95 Cancer mutations can create neomorphic protein-protein interactions to drive aberran

96 mechanistic basis of cancer mutation-driven neomorphic protein-protein interactions.

97 s that bind cyclophilin A (CYPA) to create a neomorphic protein-protein interface between CYPA and ac

98 These genes encode neomorphic proteins that produce the presumed oncometabo

99 ions may contribute to cancer through either neomorphic R(-)-2HG production or reduced wild-type enzy

100 analogous experiments studying the reductive neomorphic reaction (alphaKG to 2HG) with the mutant for

101 n isocitrate dehydrogenase 1 (IDH1) impart a neomorphic reaction that produces D-2-hydroxyglutarate (

102 elandii, which can be shown to gain the same neomorphic reaction when a homologous mutation is introd

103 one mutation can support both the normal and neomorphic reactions.

104 d suggest that the L341V-AIM mutation may be neomorphic, representative of a disease mechanism that l

105 dings indicate that YY1(T372R) mutations are neomorphic, resulting in constitutive activation of cAMP

106 Our findings uncover an unexpected neomorphic role for PIK3R1(R348 *) and neighboring trunc

107 Here we describe a neomorphic seed region mutation in the chondrocyte-speci

108 We also obtained dominant-negative and neomorphic Star mutations, which have phenotypes similar

109 ended to GlyRS in metazoans can regulate the neomorphic structural change, and that the gain of funct

110 EWS/FLI acts as a neomorphic substrate for TRIM8, defining the selective n

111 The identified neomorphic surface is thus a candidate for making CMT-as

112 hIP-sequencing maps, validate CIC::DUX4 as a neomorphic transcriptional activator.