 Neurofibromin 1
"Neurofibromin 1" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.
| Descriptor ID |
D025542
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| MeSH Number(s) |
D12.644.360.325.150.500.460 D12.776.402.150.500.460 D12.776.476.325.150.500.460 D12.776.624.776.610
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| Concept/Terms |
Neurofibromin 1- Neurofibromin 1
- Neurofibromatosis Type 1 Protein
- NF1-GAP-Related Protein
- NF1 GAP Related Protein
- NF-1 Protein
- NF 1 Protein
- NF1 GRP
- NF1 Protein
- Neurofibromatosis Type 1 Gene Product
- Neurofibromin
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Below are MeSH descriptors whose meaning is more general than "Neurofibromin 1".
Below are MeSH descriptors whose meaning is more specific than "Neurofibromin 1".
This graph shows the total number of publications written about "Neurofibromin 1" by people in UAMS Profiles by year, and whether "Neurofibromin 1" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 1 | 2 | 3 | | 2016 | 0 | 1 | 1 | | 2006 | 1 | 0 | 1 | | 2003 | 0 | 1 | 1 | | 2001 | 0 | 1 | 1 | | 1998 | 0 | 1 | 1 | | 1996 | 0 | 1 | 1 |
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Below are the most recent publications written about "Neurofibromin 1" by people in Profiles over the past ten years.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Rodriguez FJ, Graham MK, Brosnan-Cashman JA, Barber JR, Davis C, Vizcaino MA, Palsgrove DN, Giannini C, Pekmezci M, Dahiya S, Gokden M, No? M, Wood LD, Pratilas CA, Morris CD, Belzberg A, Blakeley J, Heaphy CM. Telomere alterations in neurofibromatosis type 1-associated solid tumors. Acta Neuropathol Commun. 2019 08 28; 7(1):139.
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Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A. 2019 06; 179(6):1042-1046.
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Liu YL, Yan Y, Webster C, Shao L, Lensing SY, Ni H, Feng W, Colorado N, Pathak R, Xiang Z, Hauer-Jensen M, Li S, Zhou D, Emanuel PD. Timing of the loss of Pten protein determines disease severity in a mouse model of myeloid malignancy. Blood. 2016 Apr 14; 127(15):1912-22.
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