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Elucidating distinct roles for NF1 in melanomagenesis.

Maertens(O),Johnson(B),Hollstein(P),Frederic… Cancer Discov 2013-03-00

...NF1 is mutated or suppressed in human melanomas that harbor concurrent BRAF mutations, NF1 ablation decreases the sensit...

Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse resul…

Gitler(AD),Kong(Y),Choi(JK),Zhu(Y),Pear(WS),… Pediatr Res 2004-04-00

...NF1 are predisposed to juvenile myelomonocytic leukemia. The Nf1 gene encodes neurofibromin, which can function as a Ras...

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two…

Serra(E),Rosenbaum(T),Winner(U),Aledo(R),Ars… Hum Mol Genet 2000-12-12

...NF1(-/-) and NF1(+/-). These data strongly support the idea that NF1 mutations in SCs, but not in fibroblasts, correlate...

Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cel…

Thomas(SL),Deadwyler(GD),Tang(J),Stubbs(EB),… Biochem Biophys Res Commun 2006-09-29

...NF1) are deficient for the protein neurofibromin, which contains a GAP-related domain (NF1-GRD). Neurofibromin-deficient...

Osteoclasts derived from patients with neurofibromatosis 1 (NF1) display insens…

Heervä(E),Peltonen(S),Svedström(E),Aro(HT),V… Bone 2012-03-00

...NF1. Our aim was also to characterize the effects of bisphosphonates on NF1 osteoclasts in vitro. NF1 osteoclasts and os...

Ral A, via activating the mitotic checkpoint, sensitizes cells lacking a functi…

Ganapathy(S),Fagman(JB),Shen(L),Yu(T),Zhou(X… Oncotarget 2016-12-20

Nf1 mutations or deletions are suggested to underlie the tumor predisposition of NF1 (neurofibromatosis type 1) and few ...

No correlation between NF1 mutation position and risk of optic pathway glioma i…

Hutter(S),Piro(RM),Waszak(SM),Kehrer-Sawatzk… Hum Genet 2016-05-00

...NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the N...

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Clas…

Douben(H),Hoogeveen-Westerveld(M),Nellist(M)… Hum Mutat 2023-00-00

...NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a G...

Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Str…

López-Juárez(A),Titus(HE),Silbak(SH),Pressle… Cell Rep 2017-00-18

...Nf1+/- mouse brains, and cells containing active Notch are increased in NF1 patient WM. We thus identify Notch as an Nf1...

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse …

Chohan(H),Esfandiarei(M),Arman(D),Van Raamsd… PLoS One 2018-00-00

...NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to asse...

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