ライフサイエンスコーパス: NF1

1 NF1 deficiency resulted in increased tumor-associated ma

2 NF1 encodes neurofibromin, a GTPase-activating protein f

3 NF1 is a common heritable cancer predisposition syndrome

4 NF1 is essential for negative regulation of RAS activity

5 NF1 mice also had more robust dopaminergic and behaviora

6 NF1 Patients were recruited from a phase II clinical tri

7 NF1 VasK and TseC were proven to be involved in contact-

8 NF1 was the only gene that was recurrently somatically i

9 NF1, a tumor suppressor gene and RAS-GTPase, is one of t

10 NF1-mutant human and mouse brain neurons elaborate midki

11 the crossover sites identified in 78 type 1 NF1 deletions mediated by NAHR indicated that PRS2 is a

12 Neurofibromatosis 1 (NF1) is caused by mutations in the NF1 gene, which encod

13 glia interact to govern Neurofibromatosis-1 (NF1) low-grade glioma (LGG) growth.

14 with genomic aberrations in neurofibromin 1 (NF1) and phosphoinositide 3-kinases/mammalian target of

15 ion of the tumor suppressor neurofibromin 1 (NF1) presents a newly characterized melanoma subtype, fo

16 tify a major Ras regulator, neurofibromin 1 (NF1), as a direct effector of GPCR signaling via Gbetaga

17 prevented interaction with neurofibromin 1 (NF1)-GTPase-activating protein (GAP), providing a mechan

18 ppel-Lindau (VHL), RET, and neurofibromin 1 (NF1).

19 tifaceted signaling protein neurofibromin 1 (NF1).

20 umors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, a

21 Children with neurofibromatosis type 1 (NF1) cancer predisposition syndrome are prone to the dev

22 Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic

23 Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused b

24 Neurofibromatosis type 1 (NF1) is a common monogenic neurodevelopmental disorder a

25 Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by

26 Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected

27 Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in which

28 Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to ge

29 H) associated with neurofibromatosis type 1 (NF1) is a rare and largely unknown complication of NF1.O

30 Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable

31 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose neurodevelo

32 Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients

33 Neurofibromatosis type 1 (NF1) patients are predisposed to neurofibromas but the d

34 ot been studied in neurofibromatosis type 1 (NF1) plexiform neurofibromas (PNFs).

35 , quality of life, neurofibromatosis type 1 (NF1) status, and BRAF mutation/fusion status were also d

36 k manifestation of neurofibromatosis type 1 (NF1) that arise in the Schwann cell (SC) lineage.

37 c mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene.

38 en with pathogenic neurofibromatosis type 1 (NF1) variants exposed to radiation and/or alkylator chem

39 en and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a

40 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence o

41 1) mutation causes neurofibromatosis type 1 (NF1), a disorder in which brain white matter deficits id

42 re associated with neurofibromatosis type 1 (NF1), a prominent inherited genetic disease in humans.

43 from patients with neurofibromatosis type 1 (NF1), a single-gene multifaceted disorder with comparati

44 s study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follo

45 patients with any neurofibromatosis type 1 (NF1)-associated paediatric low-grade glioma (WHO grades

46 e in patients with neurofibromatosis type 1 (NF1).

47 rs associated with neurofibromatosis type 1 (NF1).

48 r in patients with neurofibromatosis type 1 (NF1).

49 n individuals with neurofibromatosis type 1 (NF1).

50 these gaps by determining the SN risk in 167 NF1-affected versus 1,541 non-NF1-affected 5-year childh

51 To confirm these findings, we developed 2 NF1 mutants (NF1DeltatseC and NF1DeltavasK); vasK encode

52 Deep ( 500X) NF1 exon sequencing was also conducted on tumor DNA.

53 ncluding TP53 (13%), NRAS (13%), SNX31 (9%), NF1 (9%), KIT (7%) and APC (7%).

54 Here, we studied a NF1 minipig model (NF1(+/ex42del)) for the first 12 mont

55 that mediates aberrant ERK activation after NF1 loss.

56 enes (TP53, ESR1, GATA3, KMT2C, NCOR1, AKT1, NF1, RIC8A and RB1) were more frequently mutated in meta

57 Although NF1 is a classic monogenic syndrome, the clinical featur

58 CLINICAL RELEVANCE: Although NF1 is a relatively common disease in which routine opht

59 s with activity against MEKK2 can ameliorate NF1 skeletal pathology.

60 Among NF1-affected children with a primary tumor, therapeutic

61 ren's Hospital of Philadelphia cohort, among NF1-affected individuals with a primary tumor, the risk

62 ation of premature cellular senescence in an NF1-deficient background.

63 By 8 months, an NF1(+/ex42del) boar developed a large diffuse shoulder n

64 ytoma harbouring common BRAF aberrations and NF1-associated paediatric low-grade glioma.

65 5-year survival of patients with cancer and NF1, excluding nervous tissue cancers, was worse than th

66 ng four known drivers (HRAS, RET, EPAS1, and NF1).

67 the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with increased risks of breast c

68 PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1.

69 d TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma.

70 of not only BRAF, but also several NRAS and NF1 mutant melanomas.

71 Genetic alterations in BRAF, NRAS and NF1 that activate the ERK cascade, account for over 80%

72 of the tumors and were common in PIK3CA and NF1 and in genes that are involved in chromatin modifica

73 c breast cancers, mutations in TP53, RB1 and NF1, together with S10, S13 and S17, were associated wit

74 ted within the low-copy repeats NF1-REPa and NF1-REPc, which flank the human NF1 gene region.

75 in expression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in three of eight

76 MAX mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of M

77 Mutations of KRAS, TP53, and NF1 were found to increase in frequency from AIS and MIA

78 mice to model tumors from NF1-wild-type and NF1-associated patients, respectively.

79 DNA methylation assigned NF1-glioma to LGm6, a poorly defined Isocitrate Dehydrog

80 incidence of mutation in these genes to be: NF1 (56/64 = 87.5%).

81 tion and ocular dominance plasticity between NF1 mice and WT littermates disappear.

82 In PNFs, Schwann cells (SCs) have biallelic NF1 mutations necessary for tumorigenesis.

83 In NLF (biallelic NF1 inactivation) and SK-N-AS (NRAS Q61K) cell lines, tr

84 hown to have an important role in NF by both NF1-exoA (with cis exoA) and NF2 during monomicrobial in

85 Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPRED1, ATRX, HLA-A and CHD8.

86 y targetable mutations were in PIK3CA, BRAF, NF1, NRAS, and PTEN We also noted a high burden of NsM i

87 ls are frequently comutated with NF1 GAP but NF1 is rarely mutated in cancers with KRAS codon 12 or 6

88 d high-grade gliomas in patients affected by NF1 (NF1-glioma).

89 prominent skeletal manifestations caused by NF1 loss.

90 are benign peripheral nerve tumors driven by NF1 loss in Schwann cells (SCs).

91 MDM4, and CDK4 amplification; PTEN, CDKN2A, NF1, and RB1 loss).

92 In contrast, normal skin Schwann cells (NF1(+/-), NF1(-/-)) did not express CRABP2.

93 d parallel RAS-driven pathways characterizes NF1-driven tumorigenesis, and inhibiting more than one R

94 ition genes (ATM, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, and TP53).

95 t in these individuals compared with classic NF1-affected cohorts (both p < 0.0001).

96 kinases and Rho-GTPases in a patient-derived NF1 (-/-) Schwann cell line to identify novel therapeuti

97 kinases and Rho-GTPases in a patient-derived NF1(-/-) Schwann cell line to identify novel therapeutic

98 One individual with three PNs had different NF1 somatic mutations in each tumor.

99 During NF1 and NF2 mixed infection, only NF1 disseminated, whil

100 Dysregulated NF1 expression promotes cell invasion, proliferation, an

101 Establishing NF1 as a monogenic cause for ASD has important implicati

102 affect brain-wide structure and account for NF1 imaging findings is unknown.

103 developing precision medicine approaches for NF1 is an incomplete understanding of the factors that u

104 henotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single

105 tion, there were no effective treatments for NF1 and few promising approaches on the horizon.

106 paired littermate mice to model tumors from NF1-wild-type and NF1-associated patients, respectively.

107 the RAS GTPase-activating protein (RAS-GAP) NF1 drives aberrant activation of RAS/MEK/ERK signaling

108 mline mutations in the tumor suppressor gene NF1.

109 Neurofibromin gene (NF1) mutation causes neurofibromatosis type 1 (NF1), a d

110 velop malignancies compared with the general NF1-affected population (p = 0.0061).

111 rgeting >700 kilobases surrounding the genes NF1, NF2, and CUL3, which are involved in BRAF inhibitor

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

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

114 We identified 100% of the germline NF1 mutations and found somatic NF1 inactivation in 74%

115 Approximately 50% of low-grade NF1-gliomas displayed an immune signature, T lymphocyte

116 al implications for MPNST patients harboring NF1 alterations.

117 knockdown of CRABP2 was established in human NF1-associated MPNST cell lines (S462, T265, NSF1), and

118 that mast cells were also enriched in human NF1-associated MPNST.

119 develops phenotypic characteristics of human NF1: [1] cafe-au-lait macules, [2] axillary/inguinal fre

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

121 Neurofibromatosis type I (NF1) is characterized by prominent skeletal manifestatio

122 In NF1-iN cells on day 14, higher expression of FOS mRNA wa

123 (intraclass correlation coefficient, 0.73 in NF1-affected first-degree relatives) exceeded that obser

124 whether cortical development is affected in NF1, possibly causing lifelong consequences that cannot

125 patients with MPNST harboring alterations in NF1.

126 with MPNST harboring genetic alterations in NF1.

127 rotein translational regulator EIF1AX and in NF1, USP9X, KRAS, BRAF, and NRAS RAS pathway mutations w

128 detected significantly smaller long bones in NF1(+/ex42del) minipigs compared to controls, indicative

129 An up-regulation of beta-catenin in NF1 causes a shift away from osteoblastic differentiatio

130 netic alterations of glioma that develops in NF1 patients and the similarities with sporadic glioma r

131 account for aspects of brain dysfunction in NF1 that can be identified by neuroimaging and ameliorat

132 vidence for critical period dysregulation in NF1 and suggest that treatments aimed at normalizing lev

133 tracellular signal-regulated kinase (ERK) in NF1 (-/-) Schwann cells.

134 tracellular signal-regulated kinase (ERK) in NF1(-/-) Schwann cells.

135 Gliomagenesis in NF1 results in a heterogeneous spectrum of low- to high-

136 Interestingly, BCL2 mRNA was higher in NF1-iN cells on day 5 (early-period) but not on day 14.

137 PH domains carrying mutations identified in NF1 patients that prevent interaction with the 5-HT6 rec

138 Aergic interneurons (CINs) are implicated in NF1 pathology, but the cellular and molecular changes to

139 induction, relatively long tumor latency in NF1 patients suggests that additional genetic or epigene

140 -3 RNA binding family member D) was lower in NF1-iN cells by real-time PCR with 12 sex-mixed samples.

141 s contributing to the formation of MPNSTs in NF1 patients, we used a zebrafish tumor model defined by

142 r the CSC phenotype and carried mutations in NF1 or KMT2D, which are frequently mutated in breast can

143 % of MPSNTs are associated with mutations in NF1 tumor suppressor gene, resulting in activation of Ra

144 We report recurrent mutations in NF1, SUZ12, EED, TP53 and CDKN2A in our study cohort.

145 Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are define

146 we recapitulated nerve tumor progression in NF1 and provided preclinical platforms for testing thera

147 t halt tumor growth and tumor progression in NF1.

148 ocular dominance plasticity is shortened in NF1 mice due to its early closure but unaltered onset.

149 , the 20-year cumulative incidence of SNs in NF1 childhood cancer survivors was 7.3%, compared with 2

150 1 effector eIF4E, are therapeutic targets in NF1-deficient malignancies.

151 We find that, in NF1 mice of both sexes, inhibition increases strongly du

152 sed clinical management of primary tumors in NF1-affected children.

153 r of somatic mutations per sample, including NF1, was one (range 0-8).

154 yses, it was found that, in mixed infection, NF1 selectively disseminated to mouse peripheral organs,

155 ted with and could not competitively inhibit NF1 and, thus, KRAS(G13D) cells remained dependent on EG

156 interacted with and competitively inhibited NF1 drove wild-type RAS activation in an EGFR-independen

157 2.8-fold higher in patients with irradiated NF1 (95% CI, 1.3 to 6.0; P = .009).

158 rations in 1 of 5 genes (PTPN11, NRAS, KRAS, NF1, or CBL), which define genetically and clinically di

159 ata according to histology, tumour location, NF1 status, and BRAF aberration status; herein, we repor

160 iN cells from male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expr

161 lance (CD58, RFXAP), MAPK signaling (MAP2K1, NF1), NF-kappaB signaling (PRKCB, CSNK1A1), PI-3-kinase

162 Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/

163 Here, we studied a NF1 minipig model (NF1(+/ex42del)) for the first 12 months of life to evalu

164 Neurofibromin 1-mutant (NF1-mutant) cancers are driven by excessive Ras signalin

165 or subtypes (i.e., BRAF-mutant, NRAS-mutant, NF1-deficient, and triple wild-type).

166 ly expressed genes and well-known mutations (NF1, IDH1, EGFR) that were uniquely correlated with each

167 e mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-lo

168 KRAS and the tumor suppressor neurofibromin (NF1).

169 h-grade gliomas in patients affected by NF1 (NF1-glioma).

170 ntrast, normal skin Schwann cells (NF1(+/-), NF1(-/-)) did not express CRABP2.

171 Non-NF1 somatic mutation verification was performed using th

172 SN risk in 167 NF1-affected versus 1,541 non-NF1-affected 5-year childhood cancer survivors from the

173 We found no recurrent non-NF1 locus copy-number variation in PN.

174 vors was 7.3%, compared with 2.9% in the non-NF1 childhood cancer survivors (P = .003), yielding a 2.

175 To better understand the non-NF1 genetic contributions to PN pathogenesis, we perform

176 increased risk of SN when compared with non-NF1 childhood cancer survivors.

177 Cancer Survivor Study and 176 nonoverlapping NF1-affected individuals with primary tumors from Univer

178 ed in known oncogenes, including BRAF, NRAS, NF1, EGFR, ALK, TERT, and APC.

179 Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1.

180 tions involving the Ras pathway (KRAS, NRAS, NF1, PTPN11) in 6% of those with Ph-like ALL.

181 ay, with driver mutations in the KRAS, NRAS, NF1, PTPN11, or CBL genes.

182 8% of patients demonstrated driver BRAF/NRAS/NF1 mutations.

183 Applied to recombinant histone octamers, NF1, and TBP in complex with DNA, our method is highly s

184 2(-/-);Dmp1-Cre mice show an amelioration of NF1-associated phenotypes.

185 AS wild-type CRCs identified associations of NF1 and non-canonical RAS/RAF aberrations with primary r

186 s a rare and largely unknown complication of NF1.Objectives: To describe characteristics and outcomes

187 aminergic circuit function in the context of NF1 and reveal novel pathophysiological mechanisms.

188 Deletion of NF1 in striatal neurons prevents the opioid-receptor-ind

189 w inhibition of ERK activation downstream of NF1 loss in the skeleton, finding that MEKK2 is a novel

190 of rapamycin signaling, a known effector of NF1 loss.

191 s review highlights the clinical features of NF1 and the use of genetically engineered mouse models t

192 A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely

193 nce of a previously unrecognized function of NF1-LRD in glioma biology.

194 Plexiform neurofibromas are a hallmark of NF1 and result from loss of heterozygosity of NF1 in Sch

195 F1 and result from loss of heterozygosity of NF1 in Schwann cells, leading to constitutively activate

196 that arises from bi-allelic inactivation of NF1.

197 ozygosity and the somatic mutational load of NF1-glioma was influenced by age and grade.

198 Loss of NF1 expression in glioblastoma is associated with increa

199 MSN modulates opioid reward, whereas loss of NF1 in D2R-MSNs delays motor learning by impeding the fo

200 t a tumor progression model in which loss of NF1 in Schwann cells drives plexiform neurofibromas form

201 OPGs are a common manifestation of NF1 and can cause significant visual morbidity.

202 g increased GABA release in a mouse model of NF1 reverts deficits in hippocampal learning.

203 ging of intrinsic signal in a mouse model of NF1 to investigate whether cortical development is affec

204 on of MEK and SHP2 is effective in models of NF1-MPNST, both those naive to and those resistant to ME

205 P099 was superior to MEKi alone in models of NF1-MPNST, including those with acquired resistance to M

206 e the molecular and cellular pathogenesis of NF1-associated nervous system tumors.

207 ines continuum of the neuronal phenotypes of NF1 with ASD.

208 virulence was attenuated in the presence of NF1 (exoA-minus).

209 sive genetic analysis reveals the primacy of NF1 loss as the driver of PN tumorigenesis.

210 Thus, the profiling of NF1-glioma defined a distinct landscape that recapitulat

211 els recapitulate the stepwise progression of NF1 tumors and will be useful to define effective treatm

212 and mTORC1 suppression causes regression of NF1-deficient malignancies in animal models, the potenti

213 neurotransmission in the ventral striatum of NF1 mice during motivated behavior.

214 and whole-transcriptome sequencing study of NF1-associated PN.

215 dence of tibial bowing in a subpopulation of NF1 minipigs.

216 ew therapeutic strategy for the treatment of NF1.

217 During NF1 and NF2 mixed infection, only NF1 disseminated, while NF2 was rapidly killed by a cont

218 not significantly alter animal mortality or NF1 dissemination during mixed infection in the NF model

219 BRAF mutations also harbour RAS mutations or NF1 deletions.

220 he majority of MSFs (84%) had BRAF, NRAS, or NF1 mutations, and 62% had TERT promoter mutations.

221 rs and significantly co-occurred with RAS or NF1 mutations.

222 medium spiny neurons of the direct pathway, NF1 regulates opioid-induced changes in Ras activity, th

223 male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expressions were s

224 KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, f

225 ements and Main Results: We identified 49 PH-NF1 cases, characterized by a female/male ratio of 3.9 a

226 ulmonary vascular remodeling.Conclusions: PH-NF1 is characterized by a female predominance, a low Dl(

227 describe characteristics and outcomes of PH-NF1.Methods: We reported the clinical, functional, radio

228 transplant-free survival of patients with PH-NF1 from the French PH registry.Measurements and Main Re

229 mic properties among subtypes (BRAF, (N)RAS, NF1, triple wild-type (TWT)), subtype-specific preferenc

230 o the Dictyostelium ortholog of human RasGAP NF1, in commonly used axenic laboratory strains, this ge

231 and patches become enlarged when the RasGAP NF1 is mutated, showing that Ras plays an instructive ro

232 et of the patients are pathogenic and reduce NF1-LRD's invasion suppressive function.

233 0 kb and located within the low-copy repeats NF1-REPa and NF1-REPc, which flank the human NF1 gene re

234 engineered mice harboring two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848

235 ) tumors than for hereditary cluster 2 (RET, NF1) and sporadic tumors (P < 0.01 and P < 0.05, respect

236 the germline NF1 mutations and found somatic NF1 inactivation in 74% of the PN.

237 fection with 4 Aeromonas hydrophila strains (NF1-NF4).

238 As such, NF1 affords unique opportunities to define the factors t

239 Haploinsufficiency in the tumor suppressor NF1 contributes to the pathobiology of neurofibromatosis

240 phagocytized and killed by macrophages than NF1.

241 tion of ExoA was more important for NF2 than NF1 in the murine peritonitis model.

242 We found that NF1 mice exhibit reduced spontaneous dopaminergic neurot

243 Using genetic mouse models, we show that NF1 in D1R-MSN modulates opioid reward, whereas loss of

244 Here, we show that NF1-loss in patient-derived glioma cells using shRNA inc

245 , our results show, for the first time, that NF1-LRD inhibits glioma invasion, and provides evidence

246 The NF1(+/ex42del) minipig model progressively demonstrates

247 A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the ma

248 Neurofibromin protein (encoded by the NF1 gene) hydrolyzes GTP directly in complex with KRAS G

249 wn that compared to littermate controls, the NF1 model develops phenotypic characteristics of human N

250 clonal and possessed exotoxin A (ExoA), the NF1 strain was determined to be phylogenetically distinc

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

252 atosis 1 (NF1) is caused by mutations in the NF1 gene, which encodes the protein, neurofibromin, an i

253 GFR, and PDGFRA loci and by mutations in the NF1 locus, which each favor a defined state.

254 Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are pron

255 position syndrome caused by mutations in the NF1 tumor suppressor gene.

256 syndrome caused by germline mutations in the NF1 tumor suppressor, which encodes a GTPase-activating

257 of SN (95% CI, 1.3 to 4.3; P = .005) in the NF1-affected individuals.

258 With the identification of the NF1 and NF2 genes, molecularly targeted therapies are be

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

260 at the predisposing germline mutation of the NF1 gene was frequently converted to homozygosity and th

261 d with the biallelic loss of function of the NF1 tumor suppressor in Schwann cells.

262 ogether, our results clarify the role of the NF1-haploinsufficient tumor microenvironment in MPNST.

263 Moreover, under conditions tested, the NF1-LRD fails to hydrolyze Ras-GTP to Ras-GDP, suggestin

264 er demonstrate that rare variants within the NF1-LRD domain found in a subset of the patients are pat

265 Our results demonstrate that these NF1 missense mutations, although located outside the GAP

266 Autistic symptoms in this NF1 cohort demonstrated a robust unitary factor structur

267 ggest that aberrant molecular signals due to NF1 mutations may disturb gene expressions, a subset of

268 We find that binding of Gbetagamma to NF1 inhibits its ability to inactivate Ras.

269 genes for melanoma, including CDKN2A, TP53, NF1, RAC1, and PTEN, were not found among any melanocyti

270 vides a viable tool for future translational NF1 research.

271 ses MEK1/2 are promising as a means to treat NF1, the broad blockade of the ERK pathway produced by t

272 astoma is a classical "developmental tumor", NF1 relies on a very different mechanism to suppress mal

273 r understanding of the mechanisms underlying NF1 and NF2 protein function.

274 tions affect approximately 0.8% of unrelated NF1 mutation-positive probands in the University of Alab

275 We found that motor learning deficits upon NF1 loss were associated with the disruption in dopamine

276 escued the motor learning deficits seen upon NF1 loss in D2R-MSN.

277 peripheral nerve sheath tumors (MPNST) where NF1 mutations also occur.

278 mors encountered in children and adults with NF1 and NF2.

279 pression of wild-type PDGFRA associated with NF1 deficiency leads to aberrant activation of downstrea

280 s, the cancers traditionally associated with NF1, we observed SIRs of 2,056 (95% CI, 1,561 to 2,658),

281 Breast milk-derived cells with NF1 mutations also carried copy-number variations in CDK

282 Although children with NF1 are at risk for developing low-grade gliomas of the

283 Children with NF1 who develop a primary tumor are at increased risk of

284 omas frequently encountered in children with NF1, we developed genetically engineered mice harboring

285 In this study, children with NF1-associated OPG whose examination signs and symptoms

286 Long-term follow-up in children with NF1-associated OPGs has not been reported previously.

287 d cancer cells are frequently comutated with NF1 GAP but NF1 is rarely mutated in cancers with KRAS c

288 NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neuro

289 P29S) cooperates with oncogenic BRAF or with NF1-loss to promote tumorigenesis.

290 A population-based series of patients with NF1 (N = 1,404; 19,076 person-years) was linked to incid

291 ial pseudarthrosis tissue from patients with NF1 and found elevated levels of beta-catenin compared t

292 Patients with NF1 had a significantly better PFS (85.1%; 95% CI, 68.0%

293 of this combination therapy in patients with NF1 mutant melanoma.

294 Patients with NF1-associated MPNST appear to have worse outcomes than

295 tions and focused follow-up of patients with NF1.

296 sed to treat pseudarthrosis in patients with NF1.-Ghadakzadeh, S., Kannu, P., Whetstone, H., Howard A

297 of the patients with cancer with and without NF1 was compared.

298 atric low-grade glioma both with and without NF1.

299 of comparable patients with cancers without NF1 (54.0% v 67.5%; P = .01).

300 to 100%) when compared with patients without NF1 (42.0%; 95% CI, 29.1% to 60.7%; P = .012).