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*  Neurofibromatosis
A dysfunction of neurofibromin can affect regulation, and cause uncontrolled cell proliferation. Schwann cells in neurofibromas ... NF1 occurs in 1 in 3000 individuals and is equally prevalent among men and women. It is among the most common inherited nervous ... "Complex Neufibrmatosis type 1" (PDF). NHS.uk. NHS. Archived (PDF) from the original on 23 December 2015. Retrieved 13 October ... "Neurofibromatosis type 1 - Causes - NHS Choices". www.nhs.uk. Archived from the original on 2015-09-24. Retrieved 2015-10-09. " ...
*  Neurofibromin 1
Neurofibromin does contain a nuclear localization signal that is encoded by exon 43, but whether or not neurofibromin plays a ... Neurofibromin type II is expressed in Schwann cells and has reduced GAP activity. Neurofibromin type 3 (also called isoform 3' ... NF1 encodes neurofibromin (Nf1), which is a 320-kDa protein that contains 2,818 amino acids. Neurofibromin is a GTPase- ... Neurofibromin localizes in the cytoplasm, however some studies have found neurofibromin or fragments of it in the nucleus. ...
*  Point mutation
Neurofibromatosis is caused by point mutations in the Neurofibromin 1 or Neurofibromin 2 gene. Sickle-cell anemia is caused by ... 39 (1): 31-37. doi:10.1016/S1087-1845(02)00588-1. PMID 12742061. Cuomo CA, Güldener U, Xu JR, Trail F, Turgeon BG, Di Pietro A ... 1 (2): 87-105. doi:10.1016/S0022-2836(59)80038-3. "Genetics Primer". Archived from the original on 2005-04-11. Davies H, ... 1 (1): 187. eMedTV. "Causes of Tay-Sachs". Ruder K (28 May 2004). "How Gene Mutations Cause Colorblindness". Genome News ...
*  IRF8
"The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1". J. Biol. Chem ... 22 (1): 145-52. doi:10.1089/107999002753452755. PMID 11846985. Yang J, Hu X, Zimmerman M, Torres CM, Yang D, Smith SB, Liu K ( ... J. 335 (1): 147-57. PMC 1219763 . PMID 9742224. Sharf R, Azriel A, Lejbkowicz F, Winograd SS, Ehrlich R, Levi BZ (June 1995). " ... J. 335 (1): 147-57. PMC 1219763 . PMID 9742224. Li W, Nagineni CN, Ge H, Efiok B, Chepelinsky AB, Egwuagu CE (1999). " ...
*  Amita Sehgal
Neurofibromin 1 (NF1) is a tumor suppressor gene known to be dis-regulated in Neurofibromatosis type 1, a disorder which causes ... 2001: Showed neurofibromin 1 plays a role in the circadian pathway in fruit flies. 2006: Discovered the jetlag mutation and ... In 2001, Sehgal and her colleagues learned that some patients with Neurofibromatosis type 1 also experience irregularities in ... which is the same pathway implicated in Neurofibromatosis type 1 in humans. In 2006, Sehgal and her colleagues discovered a ...
*  Neurofibromatosis type I
The neurofibromin gene was soon sequenced and found to be 350,000 base pairs in length. However, the protein is 2818 amino ... The Neurofibromin 1 gene is a negative regulator of the Ras oncogene signal transduction pathway. It stimulates the GTPase ... "neurofibromin 1" GeneCards "Human Gene NF1 (uc002hgf.1) Description and Page Index" Goldberg NS, Collins FS (November 1991). " ... This homologous sequence is in the central portion of neurofibromin and being similar to the GAP family is recognized as a ...
*  SPRY1
Neurofibromin 1 SPRED1 GRCh38: Ensembl release 89: ENSG00000164056 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... 342 (1,2): 57-62. doi:10.1007/s11010-010-0468-8. PMC 2923832 . PMID 20461448. SPRY1 human gene location in the UCSC Genome ... Protein sprouty homolog 1 is a protein that in humans is encoded by the SPRY1 gene. ... "Entrez Gene: SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)". Lim J, Wong ES, Ong SH, et al. (2000). " ...
*  APOBEC1
... nucleotide bases in apolipoprotein B and neurofibromin 1 mRNAs. APOBEC-1 (A1) has been linked with cholesterol control, cancer ... doi:10.1007/978-1-61779-018-8_7. PMC 3608419 . PMID 21370045. von Wronski MA, Hirano KI, Cagen LM, Wilcox HG, Raghow R, ... 70 (1): 38-50. doi:10.1086/337952. PMC 384902 . PMID 11727199. Dance GS, Sowden MP, Cartegni L, Cooper E, Krainer AR, Smith HC ... 70 (1): 38-50. doi:10.1086/337952. PMC 384902 . PMID 11727199. Blanc V, Navaratnam N, Henderson JO, Anant S, Kennedy S, Jarmuz ...
*  GTPase
MBInfo - RhoGTPases GTPase at the US National Library of Medicine Medical Subject Headings (MeSH) Neurofibromin 1 from ... 317 (1): 41-72. doi:10.1006/jmbi.2001.5378. PMID 11916378. Hippenstiel S, Schmeck B, N'Guessan PD, et al. (October 2002). "Rho ...
*  Neurofibroma
Neurofibromin has other growth-regulatory properties besides its ability to regulate RAS activity, but these other functions ... The functional part of neurofibromin is a GAP, or GTPase-activating protein. GAP accelerates the conversion of the active GTP- ... Gene therapy for the neurofibromin 1 gene represents the ultimate solution to preventing the cluster of maladies which are ... Malignant peripheral nerve sheath tumor Neurofibromatosis Neurofibromin Genetic disorder Watson syndrome Proteus syndrome ...
*  SPRY2
SPRED1 gene Neurofibromin 1 SPRY1 GRCh38: Ensembl release 89: ENSG00000136158 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... 278 (1): 284-8. doi:10.1074/jbc.M210359200. PMID 12414790. Hall AB, Jura N, DaSilva J, Jang YJ, Gong D, Bar-Sagi D (February ... 96 (1): 91-9. doi:10.1016/S0925-4773(00)00378-6. PMID 10940627. Wong ES, Lim J, Low BC, Chen Q, Guy GR (February 2001). " ... doi:10.1016/S0960-9822(03)00086-1. PMID 12593796. Sasaki A, Taketomi T, Kato R, Saeki K, Nonami A, Sasaki M, Kuriyama M, Saito ...
*  SPRED1
... gene variant database Neurofibromin 1 Patients without Neurofibromin 1 or SPRED1 mutations may have SPRED2, SPRED3 or ... Spread-1 is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth ... 16 (1): 55-65. doi:10.1101/gr.4039406. PMC 1356129 . PMID 16344560. Chandramouli S, Yu CY, Yusoff P, Lao DH, Leong HF, Mizuno K ... Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a protein that in humans is encoded by the SPRED1 gene located ...
*  NF1
... may refer to: Neurofibromatosis type I, a genetic disorder Neurofibromin 1, a protein associated with the disorder above ...
*  Neurofibromin
... can refer to one of two different proteins: Neurofibromin 1 Neurofibromin 2 These proteins are involved in the ...
*  Glioblastoma
... the gene encoding Neurofibromin 1 and fewer alterations in the EGFR gene and less expression of EGFR than other types. The ... 46 (1): 37-42. doi:10.1016/j.jcv.2009.05.011. PMC 2749001 . PMID 19505845. Chi, J.; Gu, B.; Zhang, C.; Peng, G.; Zhou, F.; Chen ... 1 (1): 1-2. doi:10.1016/s1658-3876(08)50053-7. PMID 20063521. Moviglia, GA; Carrizo, AG; Varela, G; Gaeta, CA; Paes De Lima, A ... 83 (1): 91-3. doi:10.1007/s11060-006-9292-0. PMID 17164975. M. Preusser, A. Wöhrer, S. Stary, R. Höftberger, B. Streubel, J. A ...
*  List of MeSH codes (D12.776.476)
... neurofibromin 1 MeSH D12.776.476.325.150.500.500 -- p120 gtpase activating protein MeSH D12.776.476.325.150.750 -- rgs proteins ... adp-ribosylation factor 1 MeSH D12.776.476.525.400.025 -- rab1 gtp-binding proteins MeSH D12.776.476.525.400.050 -- rab2 gtp- ... caspase 1 MeSH D12.776.476.075.437.500 -- neuronal apoptosis-inhibitory protein MeSH D12.776.476.075.437.750 -- x-linked ... chimerin 1 MeSH D12.776.476.325.150.300 -- eukaryotic initiation factor-5 MeSH D12.776.476.325.150.500 -- ras gtpase-activating ...
*  List of MeSH codes (D12.644)
... neurofibromin 1 MeSH D12.644.360.325.150.500.500 --- p120 gtpase activating protein MeSH D12.644.360.325.150.750 --- rgs ... map kinase kinase 1 MeSH D12.644.360.440.200 --- map kinase kinase 2 MeSH D12.644.360.440.300 --- map kinase kinase 3 MeSH ... ADP-ribosylation factor 1 MeSH D12.644.360.525.400 --- rab gtp-binding proteins MeSH D12.644.360.525.400.025 --- rab1 gtp- ... interleukin-1 MeSH D12.644.276.174.500.800 --- tumor necrosis factor-alpha MeSH D12.644.276.174.750 --- tumor necrosis factors ...
*  List of MeSH codes (D12.776)
... neurofibromin 1 MeSH D12.776.402.150.500.500 - p120 gtpase activating protein MeSH D12.776.402.300.700.500 - ras-GRF1 MeSH ... cofilin 1 MeSH D12.776.220.525.212.750 - cofilin 2 MeSH D12.776.220.525.212.875 - destrin MeSH D12.776.220.525.246.500 - actin- ... hiv-1 reverse transcriptase MeSH D12.776.964.970.880.325 - gene products, env MeSH D12.776.964.970.880.325.330 - hiv envelope ... hiv-1 reverse transcriptase MeSH D12.776.964.775.750.320 - fusion proteins, gag-onc MeSH D12.776.964.775.750.320.700 - oncogene ...
*  KIF5B
Kinesin-1 heavy chain is a protein that in humans is encoded by the KIF5B gene. KIF5B has been shown to interact with: KLC1, ... Brickley K, Smith MJ, Beck M, Stephenson FA (Apr 2005). "GRIF-1 and OIP106, members of a novel gene family of coiled-coil ... Hakimi MA, Speicher DW, Shiekhattar R (Oct 2002). "The motor protein kinesin-1 links neurofibromin and merlin in a common ... interaction of the COOH-terminal domain with cytoplasmic microtubules in transfected CV-1 cells". The Journal of Cell Biology. ...
*  Chromosome 17 (human)
... neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2) SLC6A4: Serotonin transporter linked ... ISBN 978-1-136-84407-2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last ... Solute carrier family 4, member 1 (17q21.31) CBX1: chromobox homolog 1 (17q21.32) COL1A1: collagen, type I, alpha 1 (17q21.33) ... breast cancer 1, early onset (17q21) GFAP: glial fibrillary acidic protein (17q21) RARA or RAR-alpha: Retinoic acid receptor ...
*  Merlin (protein)
Merlin (also called Neurofibromin 2 or schwannomin) is a cytoskeletal protein. In humans, it is a tumor suppressor protein ... Fruit fly merlin gene (symbol Mer) is located on chromosome 1 and shares 58% similarity to its human homologue. Other merlin- ... Jannatipour M, Dion P, Khan S, Jindal H, Fan X, Laganière J, Chishti AH, Rouleau GA (August 2001). "Schwannomin isoform-1 ... The two most common these are also found in the mouse and are called type 1 and type 2, differing by the absence or presence of ...
*  CASK
... neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans". J. Neurosci. 21 (11): 3764-70. PMID 11356864. Zhang Y ... 63 (1): 120-6. doi:10.1016/j.metabol.2013.09.009. PMID 24140090. Wang Y, Li R, Du D, Zhang C, Yuan H, Zeng R, Chen Z (2006). " ... 42 (1): 113-28. doi:10.1016/S0896-6273(04)00139-4. PMID 15066269. Chetkovich DM, Bunn RC, Kuo SH, Kawasaki Y, Kohwi M, Bredt DS ... 277 (1): 486-91. doi:10.1074/jbc.M109806200. PMID 11679592. Zhang Y, Luan Z, Liu A, Hu G (May 2001). "The scaffolding protein ...
*  Alcino J. Silva
Cui, Y; Costa, RM; Murphy, GG; Elgersma, Y; Zhu, Y; Gutmann, DH; Parada, LF; Mody, I; Silva, AJ (2008). "Neurofibromin ... Cui, Y; Costa, RM; Murphy, GG; Elgersma, Y; Zhu, Y; Gutmann, DH; Parada, LF; Mody, I; Silva, AJ (2008). "Neurofibromin ... "Neurofibromin regulates corticostriatal inhibitory networks during working memory performance". Proc Natl Acad Sci U S A. 107: ... 17 (1): 62-70. doi:10.1038/mp.2010.115. PMC 3118259 . PMID 21079609. Zhou, M; Li, W; Huang, S; Song, J; Kim, J Tian; Kang, E ...
*  Osteofibrous dysplasia
... neurofibromin, and S-100 protein. Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, ... 209 (1): 53-59. doi:10.1620/tjem.209.53. PMID 16636523. E-medicine overview humpath. ...
*  C-Raf
Morcos P, Thapar N, Tusneem N, Stacey D, Tamanoi F (May 1996). "Identification of neurofibromin mutants that exhibit allele ... 122 (1): 11-9. doi:10.1007/s00401-011-0841-z. PMID 21638088. Tran NH, Wu X, Frost JA (April 2005). "B-Raf and Raf-1 are ... 274 (1): 48-51. doi:10.1074/jbc.274.1.48. PMID 9867809. Okada T, Hu CD, Jin TG, Kariya K, Yamawaki-Kataoka Y, Kataoka T ( ... 404 (1): 3-9. doi:10.1016/S0003-9861(02)00244-8. PMID 12127063. Greenway AL, Holloway G, McPhee DA, Ellis P, Cornall A, Lidman ...
*  Noonan syndrome
A condition known as "neurofibromatosis-Noonan syndrome" is associated with neurofibromin. NS can be confirmed genetically by ... 1] Shaw, A. C.; Kalidas, K.; Crosby, A. H.; Jeffery, S.; Patton, M. A. (2007-02-01). "The natural history of Noonan syndrome: a ... 94 (1): 46-51. doi:10.1002/1096-8628(20000904)94:1. 3.0.CO;2-I. PMID 10982482. Schubbert S, Zenker M, Rowe SL, et al. (2006). " ... It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most ...