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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 individual with no detected variants in the NF1 gene.
6 ntaneous autosomal dominant mutations in the NF1 gene.
7 ter by inactivation or overexpression of the NF1 gene.
8 ygous for a loss-of-function mutation in the Nf1 gene.
9 , including the de novo Alu insertion in the NF1 gene.
10 gment gene and the neurofibromatosis type 1 (NF1) gene.
11 nes, including the neurofibromatosis type 1 (NF1) gene.
12 e targets of MMR is the neurofibromatosis 1 (NF1) gene.
16 g how loss of function of the ASD-associated NF1 gene affects behavior and physiology in Drosophila m
17 hips between small mutations (<20 bp) of the NF1 gene and a specific phenotype have previously been d
18 oss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, s
19 arry germline mutations in one allele of the NF1 gene and are predisposed to myeloid malignancies, pa
22 cis, which is heterozygous for the Trp53 and Nf1 genes and through LOH develops lymphomas, sarcomas,
23 s type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benig
24 observed that multiple variants in the human NF1 gene are associated with a quantitative measure of a
44 ined quantitative and qualitative aspects of NF1 gene expression in six sporadic pilocytic astrocytom
45 al characterization of the effect of reduced Nf1 gene expression on astrocyte function by demonstrati
46 Tax trans-regulator can functionally repress NF1 gene expression through a cis-acting element located
47 sor gene in pilocytic astrocytomas, and that NF1 gene expression would be reduced or absent in these
54 3 (CRLF3) gene, which is co-deleted with the NF1 gene, functions as a major regulator of neuronal mat
55 tion, human and mouse data indicate that NF1/Nf1 gene haploinsufficiency modulates cellular physiolog
58 ntification of the neurofibromatosis type 1 (NF1) gene, has witnessed great advances in our understan
64 Specific ablation of a single copy of the Nf1 gene in myeloid cells alone mobilizes a discrete pro
65 studies have revealed critical roles for the NF1 gene in non-neoplastic cells in the tumor microenvir
66 nces in our understanding of the role of the NF1 gene in the molecular pathogenesis of NF1-associated
67 o study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently ge
69 h bi-allelic somatic (glial progenitor cell) Nf1 gene inactivation develop brain tumors that do not f
71 Third, in contrast to the GFAP-Cre strain, Nf1 gene inactivation in NG2+ cells is not sufficient fo
72 lopment, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor ce
73 an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes.
74 a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cell
76 Neurofibromin, the protein product of the Nf1 gene, is believed to act as a tumor suppressor, acce
77 type I (NF1), caused by the mutation in the NF1 gene, is characterized by multiple pathological symp
78 omal dominant disorder caused by loss of the NF1 gene, is characterized clinically by neurofibromas a
79 en for identifying genes that cooperate with Nf1 gene loss during progression to acute myeloid leukae
80 We also provide evidence to indicate that Nf1 gene loss induces myeloproliferative disease through
81 ed mice (GEM) in which mono-allelic germline Nf1 gene loss is coupled with bi-allelic somatic (glial
82 cient haematopoietic stem cells we show that Nf1 gene loss, by itself, is sufficient to produce the m
84 mary astrocytes harboring the R681X germline Nf1 gene mutation exhibit increased basal astrocyte prol
85 y, these studies establish that the germline Nf1 gene mutation is a major determinant of optic glioma
87 tions, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease h
88 udy was to define the impact of the germline NF1 gene mutation on brain neurofibromin function releva
91 mmon tumor predisposition syndrome caused by NF1 gene mutation, in which affected patients develop Sc
92 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are invol
98 oring two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848R and c.2041C>T;p.R6
99 first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin
100 system neurons from mice with tumor-causing Nf1 gene mutations exhibit hyperexcitability and increas
103 protein isoform of the neurofibromatosis 1 (NF1) gene (neurofibromin) containing the alternatively s
105 heterozygous for a targeted mutation in the Nf1 gene (Nf1+/- astrocytes) exhibit a cell autonomous g
107 Introduction of an exogenous full-length NF1 gene or its GTPase-activating protein (GAP)-related
109 , null mutations of the neurofibromatosis-1 (Nf1) gene produce abnormalities of circadian rhythms in
113 modulates the function of neurofibromin, the NF1 gene product, by inserting the in-frame exon 23a int
115 is well established that neurofibromin, the NF1 gene product, is an antioncogene that down-regulates
117 rotubule assembly have demonstrated that the NF1 gene product, neurofibromin, interacts with cytoplas
119 effort to determine the contribution of the NF1 gene product, neurofibromin, to astrocyte growth reg
120 nstrate that mast cells heterozygous for the Nf1 gene promote the growth of neurofibromas in a mouse
121 nsin homolog (Pten) and neurofibromatosis 1 (Nf1) genes recently were found to be comutated in high-g
122 romatosis 1 (NF1), and allelic losses of the NF1 gene region on chromosome 17q occur in sporadic pilo
128 are identical to the Alu Ya5a2 insert in the NF1 gene showed that only five have tails with 40 or mor
129 d immunohistochemistry technique, we studied NF1 gene status in S-100 protein-positive and -negative
130 s type 1 (NF1) is caused by mutations in the NF1 gene that encodes neurofibromin, a RAS GTPase-activa
131 isposition syndrome caused by alterations in NF1 gene that lead to tumor growth throughout the nervou
132 vating mutations of the Neurofibromatosis-1 (NF1) gene that predisposes these patients to malignancie
133 omin is a multidomain protein encoded by the NF1 gene, the mutation of which causes Neurofibromatosis
134 ed by heterozygous germline mutations in the NF1 gene, this monogenic condition offers unique opportu
135 The deletions encompassed the entire 350 kb NF1 gene, three additional genes, one pseudogene and 16
136 o correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phen
138 pilocytic astrocytomas overexpress specific NF1 gene transcripts, perhaps as a regulatory response t
141 at the predisposing germline mutation of the NF1 gene was frequently converted to homozygosity and th
142 nonsense mutation in exon 31 (R1947X) of the NF1 gene was identified in the lymphocyte DNA of the aff
143 urpose of this study was to determine if the NF1 gene was involved in the pathogenesis of JMML in chi
146 e fragments, and truncating mutations of the NF1 gene were found in specimens from 8 of these childre
147 rofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein t
148 ss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromin, a RAS GTPase-acti
150 atosis 1 (NF1) is caused by mutations in the NF1 gene, which encodes the protein, neurofibromin, an i