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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Neurofibromin 1

NF1, Neurofibromin 1, CTF
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, fibrillin-1, OUT
Papers using NF1 antibodies
Amyloid precursor protein mutation E682K at the alternative beta-secretase cleavage beta'-site increases Abeta generation
De Strooper Bart et al., In The EMBO Journal, 2010
... IRDye800 from Rockland, goat-anti-rabbit Alexa680 from Invitrogen, 82E1 from Demeditec Diagnostics, MAB5232 and MAB1563 against PSEN1–CTF and human PSEN1–NTF from Chemicon, biotinylated anti-mouse IgG from Vector laboratories, streptavidin-HRP from GE Healthcare ...
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors
Miettinen Markku et al., In Journal of Cancer, 2005
... A total of 23 NF1-associated GISTs, from years 1970-1999, were obtained from the Armed Forces Institute of Pathology (AFIP) tissue repository.Immunostaining was performed with Leica Bond-Max automatic immunostainer (Leica, ...
p160ROCK, a Rho-associated coiled-coil forming protein kinase, works downstream of Rho and induces focal adhesions
Arkowitz Robert Alan, In PLoS ONE, 1996
... Antibodies against Nf1 (sc-67), ROCK1 (sc-6055), and LIMK2 (sc-8390) and anti-Nf1 beads were from Santa Cruz Biotechnology, Inc ...
Papers on NF1
Laryngeal Manifestations of Neurofibromatosis.
Song et al., Boston, United States. In Otolaryngol Head Neck Surg, Feb 2016
RESULTS: Thirty-four patients with NF-1 or NF-2 were evaluated, and 28 of these patients (6 NF-1 and 22 NF-2) had laryngeal pathology.
HRAS mutation prevalence and associated expression patterns in pheochromocytoma.
Larsson et al., Stockholm, Sweden. In Genes Chromosomes Cancer, Feb 2016
HRAS mutated PPGL cluster together with NF1- and RET-mutated tumors associated with activation of kinase-signaling pathways.
Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning.
Steyaert et al., Leuven, Belgium. In Am J Med Genet B Neuropsychiatr Genet, Feb 2016
UNASSIGNED: The aim of this study was to provide a broad picture of Executive Functioning (EF) in NF1 children, while taking into account their lower average IQ and increased Autism Spectrum Disorder (ASD) symptoms.
Morphological Differences in the Vertebrae of Scoliosis Secondary to Neurofibromatosis Type 1 with and without Paraspinal Neurofibromas.
Zhu et al., Nanjing, China. In Spine (phila Pa 1976), Feb 2016
OBJECTIVE: To investigate morphological differences in the vertebrae of scoliosis secondary to neurofibromatosis type 1 (NF1-S) with and without paraspinal neurofibromas and to identify the relationship between paraspinal neurofibromas and vertebral deformity.
Neurofibromas of the phrenic nerve: a case report and review of the literature.
McCutcheon et al., Houston, United States. In World Neurosurg, Jan 2016
They may occur in conjunction with or independently of neurofibromatosis type 1 (NF1).
The Challenge of Cancer Genomics in Rare Nervous System Neoplasms: Malignant Peripheral Nerve Sheath Tumors as a Paradigm for Cross-Species Comparative Oncogenomics.
Carroll, Charleston, United States. In Am J Pathol, Jan 2016
Studies of human neurofibromatosis type 1-associated tumors suggest that NF1 tumor suppressor loss in Schwann cells triggers cell-autonomous and intercellular changes, resulting in development of benign neurofibromas; subsequent neurofibroma-MPNST progression is caused by aberrant growth factor signaling and mutations affecting the p16(INK4A)-cyclin D1-CDK4-Rb and p19(ARF)-Mdm2-p53 cell cycle pathways.
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
NF France network et al., Bron, France. In Eur J Paediatr Neurol, Jan 2016
BACKGROUND/PURPOSE: Optic pathway glioma (OPG) is the most common central nervous system tumor in children with neurofibromatosis type 1 (NF1), affecting 15-20% of patients.
Germline Mutations in Predisposition Genes in Pediatric Cancer.
Downing et al., Memphis, United States. In N Engl J Med, Jan 2016
The most commonly mutated genes in the affected patients were TP53 (in 50 patients), APC (in 6), BRCA2 (in 6), NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3).
The genomic landscape of juvenile myelomonocytic leukemia.
Loh et al., San Francisco, United States. In Nat Genet, Nov 2015
Mutations in NF1, NRAS, KRAS, PTPN11 or CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and could therefore be candidates for experimental therapies.
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
Cavé et al., Paris, France. In Nat Genet, Nov 2015
Somatic events were rare (0.38 events/Mb/case) and restricted to sporadic (49/78; 63%) or neurofibromatosis type 1 (NF1)-associated (8/8; 100%) JMML cases.
η-Secretase processing of APP inhibits neuronal activity in the hippocampus.
Haass et al., München, Germany. In Nature, Nov 2015
We identify higher molecular mass carboxy-terminal fragments (CTFs) of APP, termed CTF-η, in addition to the long-known CTF-α and CTF-β fragments generated by the α- and β-secretases ADAM10 (a disintegrin and metalloproteinase 10) and BACE1 (β-site APP cleaving enzyme 1), respectively.
Coincident liposarcoma, carcinoid and gastrointestinal stromal tumor complicating type 1 neurofibromatosis: Case report and literature review.
Dry et al., Los Angeles, United States. In J Orthop, Oct 2015
Neurofibromatosis type 1 (NF1) is associated with increased risk of multiple neoplasms.
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
Bastian et al., San Francisco, United States. In Nat Genet, Oct 2015
Instead, other genetic alterations known to activate the MAPK and PI3K signaling cascades were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2K1, MAP3K1, BRAF, EGFR, PTPN11, MET, RAC1, SOS2, NRAS and PIK3CA, some of which are candidates for targeted therapies.
Computational modeling of bone fracture non-unions: four clinically relevant case studies.
Geris et al., Leuven, Belgium. In In Silico Cell Tissue Sci, 2014
NF1 related congenital pseudoarthrosis of the tibia (CPT)] and non-union due to mechanical overload.
Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis.
Gos et al., Warsaw, Poland. In Postepy Hig Med Dosw (online), 2014
Neurofibromatosis type I (NF1) is multisystemic disease characterized by pigmentary skin changes, increased susceptibility to tumor formation, neurological deficits and skeletal defects.
ERK inhibition rescues defects in fate specification of Nf1-deficient neural progenitors and brain abnormalities.
Zhu et al., Ann Arbor, United States. In Cell, 2012
Study reveals a critical role for Nf1 in maintaining postnatal subventricular zone -derived neurogenesis.
Evidence that nuclear factor IA inhibits repair after white matter injury.
Deneen et al., San Francisco, United States. In Ann Neurol, 2012
NFIA is expressed in oligodendrocyte progenitors, but not differentiated oligodendrocytes during mouse embryonic development.
PTEN and NF1 inactivation in Schwann cells produces a severe phenotype in the peripheral nervous system that promotes the development and malignant progression of peripheral nerve sheath tumors.
Largaespada et al., Minneapolis, United States. In Cancer Res, 2012
Haploinsufficiency or complete loss of Pten dramatically accelerated neurofibroma development and led to the development of higher grade PNSTs in the context of Nf1 loss
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
McCormick et al., San Francisco, United States. In Genes Dev, 2012
show that neurofibromin, the NF1 gene product, is a Spred1-interacting protein that is necessary for Spred1's inhibitory function
Acetylation of the SUN protein Mps3 by Eco1 regulates its function in nuclear organization.
Jaspersen et al., Kansas City, United States. In Mol Biol Cell, 2012
Acetylation of Mps3 by Eco1 is one of the few regulatory mechanisms known to control nuclear organization.
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