ライフサイエンスコーパス: NF1 gene

1 transcription of the gene encoding Nf1 (the NF1 gene).

2 pears to be associated with mutations in the NF1 gene.

3 ene (OMgp) is placed within an intron of the NF1 gene.

4 as also seen in cells carrying the exogenous NF1 gene.

5 ntaneous autosomal dominant mutations in the NF1 gene.

6 ter by inactivation or overexpression of the NF1 gene.

7 ygous for a loss-of-function mutation in the Nf1 gene.

8 , including the de novo Alu insertion in the NF1 gene.

9 gment gene and the neurofibromatosis type 1 (NF1) gene.

10 nes, including the neurofibromatosis type 1 (NF1) gene.

11 e targets of MMR is the neurofibromatosis 1 (NF1) gene.

12 The NF1 gene, a putative tumor suppressor gene, contains a G

13 L show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein.

14 We therefore hypothesized that the NF1 gene acts as a tumor suppressor gene in pilocytic as

15 hips between small mutations (<20 bp) of the NF1 gene and a specific phenotype have previously been d

16 oss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, s

17 arry germline mutations in one allele of the NF1 gene and are predisposed to myeloid malignancies, pa

18 Large deletions encompassing the NF1 gene and its flanking regions belong to the group of

19 cis, which is heterozygous for the Trp53 and Nf1 genes and through LOH develops lymphomas, sarcomas,

20 s type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benig

21 observed that multiple variants in the human NF1 gene are associated with a quantitative measure of a

22 Both alleles of the NF1 gene are inactivated in leukemic cells in some patie

23 The role of the NF1 gene as a tumor suppressor in pilocytic astrocytomas

24 Our results show that mutation in the Nf1 gene causes abnormal keratinocyte proliferation that

25 The NF1 gene contains a 195-bp PATRR within intron 31.

26 Inactivation of the neurofibromatosis-1 (NF1) gene de-regulates RAS and cooperates with mutation

27 Conversely, enhanced ERK activity via Nf1 gene deletion extends the response and rescues both

28 Here, we discuss the importance of Nf1 gene dosage, delineate hematopoietic contributions t

29 mouse spatial learning are controlled in an Nf1 gene dose-dependent manner.

30 The NF1 gene encodes a tumor suppressor that most likely act

31 The NF1 gene encodes for neurofibromin, a RAS GTPase-activat

32 The NF1 gene encodes neurofibromin, a Ras-GAP, highly expres

33 The NF1 gene encodes neurofibromin, a tumor suppressor postu

34 The neurofibromatosis 1 (NF1) gene encodes a cytoplasmic protein with structural

35 The neurofibromatosis type 1 (Nf1) gene encodes a GTPase activating protein that negat

36 The neurofibromatosis type 1 (NF1) gene encodes the GTPase-activating protein (GAP) ne

37 omatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin.

38 ined quantitative and qualitative aspects of NF1 gene expression in six sporadic pilocytic astrocytom

39 al characterization of the effect of reduced Nf1 gene expression on astrocyte function by demonstrati

40 Tax trans-regulator can functionally repress NF1 gene expression through a cis-acting element located

41 sor gene in pilocytic astrocytomas, and that NF1 gene expression would be reduced or absent in these

42 st-transcriptional mechanisms which regulate NF1 gene expression.

43 hanism would suffice to epigenetically alter NF1 gene expression.

44 ral nervous system (PNS) neurons, to reduced Nf1 gene expression.

45 abrogated this association and altered Wsb1/Nf1 gene expression.

46 F1 promoter in vivo and repressed endogenous NF1 gene expression.

47 s in Nf1+/- mice, presumably by inactivating Nf1 gene expression.

48 tion, human and mouse data indicate that NF1/Nf1 gene haploinsufficiency modulates cellular physiolog

49 Clinical mutation analysis for the NF1 gene has been problematic; a sensitive new assay usi

50 The neurofibromatosis 1 (NF1) gene has been implicated in astrocyte growth regula

51 ntification of the neurofibromatosis type 1 (NF1) gene, has witnessed great advances in our understan

52 Six polymorphisms across the NF1 gene have been adapted for genotyping through applic

53 etion (c.2970-2972 delAAT) in exon 17 of the NF1 gene in all affected subjects.

54 ts in astrocytes and expands the role of the NF1 gene in astrocyte growth regulation.

55 is increasing evidence implicating the human NF1 gene in epithelial carcinogenesis.

56 Specific ablation of a single copy of the Nf1 gene in myeloid cells alone mobilizes a discrete pro

57 studies have revealed critical roles for the NF1 gene in non-neoplastic cells in the tumor microenvir

58 nces in our understanding of the role of the NF1 gene in the molecular pathogenesis of NF1-associated

59 o study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently ge

60 transcription of the gene encoding Nf1 (the NF1 gene) in differentiating myeloid cells.

61 h bi-allelic somatic (glial progenitor cell) Nf1 gene inactivation develop brain tumors that do not f

62 Third, in contrast to the GFAP-Cre strain, Nf1 gene inactivation in NG2+ cells is not sufficient fo

63 lopment, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor ce

64 an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes.

65 First, the expression of the Nf1 gene is largely restricted to neuronal tissues in th

66 Neurofibromin, the protein product of the Nf1 gene, is believed to act as a tumor suppressor, acce

67 type I (NF1), caused by the mutation in the NF1 gene, is characterized by multiple pathological symp

68 omal dominant disorder caused by loss of the NF1 gene, is characterized clinically by neurofibromas a

69 en for identifying genes that cooperate with Nf1 gene loss during progression to acute myeloid leukae

70 We also provide evidence to indicate that Nf1 gene loss induces myeloproliferative disease through

71 ed mice (GEM) in which mono-allelic germline Nf1 gene loss is coupled with bi-allelic somatic (glial

72 cient haematopoietic stem cells we show that Nf1 gene loss, by itself, is sufficient to produce the m

73 NF1 gene mutants had shortened life spans and increased

74 mary astrocytes harboring the R681X germline Nf1 gene mutation exhibit increased basal astrocyte prol

75 y, these studies establish that the germline Nf1 gene mutation is a major determinant of optic glioma

76 In addition, specific types of NF1 gene mutation may be associated with an increased ri

77 tions, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease h

78 udy was to define the impact of the germline NF1 gene mutation on brain neurofibromin function releva

79 To determine the impact of the germline NF1 gene mutation on the optic gliomas frequently encoun

80 We found that each germline Nf1 gene mutation resulted in different levels of neurof

81 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are invol

82 ithin individuals who bear the same germline NF1 gene mutation.

83 tonomous and stromal effects of the germline Nf1 gene mutation.

84 g a neomycin insertion (neo) as the germline Nf1 gene mutation.

85 patients, even in families with an identical NF1 gene mutation.

86 res, has been attributed to mosaicism for an NF1 gene mutation.

87 oring two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848R and c.2041C>T;p.R6

88 first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin

89 Neurofibromin (NF1) gene mutations lead to increased risk of neurofibro

90 cause they harbor biallelic neurofibromin 1 (NF1) gene mutations.

91 protein isoform of the neurofibromatosis 1 (NF1) gene (neurofibromin) containing the alternatively s

92 The product of the NF1 gene, neurofibromin, is a tumor suppressor which mos

93 heterozygous for a targeted mutation in the Nf1 gene (Nf1+/- astrocytes) exhibit a cell autonomous g

94 ave a constitutional t(17;22) disrupting the NF1 gene on 17q11.

95 Introduction of an exogenous full-length NF1 gene or its GTPase-activating protein (GAP)-related

96 Although loss of the NF1 gene predisposes to MPNST induction, relatively long

97 , null mutations of the neurofibromatosis-1 (Nf1) gene produce abnormalities of circadian rhythms in

98 To determine how the NF1 gene product (neurofibromin) regulates astrocyte gro

99 Based on the ability of the NF1 gene product (neurofibromin) to function as a GTPase

100 The NF1 gene product neurofibromin negatively regulates Ras

101 modulates the function of neurofibromin, the NF1 gene product, by inserting the in-frame exon 23a int

102 Here we show that neurofibromin, the NF1 gene product, is a Spred1-interacting protein that i

103 is well established that neurofibromin, the NF1 gene product, is an antioncogene that down-regulates

104 The NF1 gene product, neurofibromin, functions as a negative

105 rotubule assembly have demonstrated that the NF1 gene product, neurofibromin, interacts with cytoplas

106 The NF1 gene product, neurofibromin, is hypothesized to func

107 effort to determine the contribution of the NF1 gene product, neurofibromin, to astrocyte growth reg

108 nstrate that mast cells heterozygous for the Nf1 gene promote the growth of neurofibromas in a mouse

109 nsin homolog (Pten) and neurofibromatosis 1 (Nf1) genes recently were found to be comutated in high-g

110 romatosis 1 (NF1), and allelic losses of the NF1 gene region on chromosome 17q occur in sporadic pilo

111 r a large maternally derived deletion in the NF1 gene region.

112 NF1-REPa and NF1-REPc, which flank the human NF1 gene region.

113 Mutations in the NF1 gene result in decreased expression of neurofibromin

114 are identical to the Alu Ya5a2 insert in the NF1 gene showed that only five have tails with 40 or mor

115 d immunohistochemistry technique, we studied NF1 gene status in S-100 protein-positive and -negative

116 vating mutations of the Neurofibromatosis-1 (NF1) gene that predisposes these patients to malignancie

117 omin is a multidomain protein encoded by the NF1 gene, the mutation of which causes Neurofibromatosis

118 The deletions encompassed the entire 350 kb NF1 gene, three additional genes, one pseudogene and 16

119 o correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phen

120 tion, in ICSBP-deficient cells, is decreased NF1 gene transcription.

121 pilocytic astrocytomas overexpress specific NF1 gene transcripts, perhaps as a regulatory response t

122 by generating a conditional mutation in the NF1 gene using Cre/loxP technology.

123 nonsense mutation in exon 31 (R1947X) of the NF1 gene was identified in the lymphocyte DNA of the aff

124 urpose of this study was to determine if the NF1 gene was involved in the pathogenesis of JMML in chi

125 Surprisingly, the NF1 gene was overexpressed up to fourfold in these tumor

126 zed brains from transgenic mice in which the Nf1 gene was targeted by homologous recombination.

127 e fragments, and truncating mutations of the NF1 gene were found in specimens from 8 of these childre

128 rofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein t

129 ss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromin, a RAS GTPase-acti

130 a genetic disease caused by mutations in the NF1 gene, which encodes the protein neurofibromin.

131 NF1 is caused by mutations in the NF1 gene, which encodes the RAS GTPase-activating protei

132 ominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2.