 Neurofibromatosis 1
"Neurofibromatosis 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.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
| Descriptor ID |
D009456
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| MeSH Number(s) |
C04.557.580.600.580.590.650 C04.700.645.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.645.650
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| Concept/Terms |
Neurofibromatosis 1- Neurofibromatosis 1
- Neurofibromatosis I
- Neurofibromatosis, Peripheral, NF 1
- Neurofibromatosis, Peripheral, NF1
- Neurofibromatosis, Type 1
- Type 1 Neurofibromatosis
- Neurofibromatosis, Type I
- Neurofibromatoses, Type I
- Type I Neurofibromatoses
- NF1 (Neurofibromatosis 1)
- Peripheral Neurofibromatosis
- Neurofibromatoses, Peripheral
- Neurofibromatosis, Peripheral
- Peripheral Neurofibromatoses
- Recklinghausen Disease of Nerve
- Recklinghausen's Disease of Nerve
- Recklinghausen Disease, Nerve
- Recklinghausens Disease of Nerve
- von Recklinghausen Disease
- von Recklinghausen's Disease
- von Recklinghausens Disease
- Neurofibromatosis, Peripheral Type
- Neurofibromatosis Type 1
- Type 1, Neurofibromatosis
- Neurofibromatosis Type I
- I, Neurofibromatosis Type
- Type I, Neurofibromatosis
Watson Syndrome- Watson Syndrome
- Syndrome, Watson
- Pulmonic Stenosis with Cafe-au-Lait Spots
- Pulmonic Stenosis with Cafe au Lait Spots
- Cafe-au-Lait Spots with Pulmonic Stenosis
- Cafe au Lait Spots with Pulmonic Stenosis
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Below are MeSH descriptors whose meaning is more general than "Neurofibromatosis 1".
Below are MeSH descriptors whose meaning is more specific than "Neurofibromatosis 1".
This graph shows the total number of publications written about "Neurofibromatosis 1" by people in this website by year, and whether "Neurofibromatosis 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 |
|---|
| 1991 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 2001 | 0 | 1 | 1 | | 2004 | 2 | 0 | 2 | | 2005 | 1 | 0 | 1 | | 2006 | 2 | 1 | 3 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2010 | 1 | 1 | 2 | | 2011 | 1 | 1 | 2 | | 2012 | 3 | 0 | 3 | | 2013 | 3 | 0 | 3 | | 2014 | 1 | 0 | 1 | | 2015 | 3 | 0 | 3 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 3 | 1 | 4 | | 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles.
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Rice FL, Houk G, Wymer JP, Gosline SJC, Guinney J, Wu J, Ratner N, Jankowski MP, La Rosa S, Dockum M, Storey JR, Carroll SL, Albrecht PJ, Riccardi VM. The evolution and multi-molecular properties of NF1 cutaneous neurofibromas originating from C-fiber sensory endings and terminal Schwann cells at normal sites of sensory terminations in the skin. PLoS One. 2019; 14(5):e0216527.
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D'Angelo F, Ceccarelli M, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Suñol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A. The molecular landscape of glioma in patients with Neurofibromatosis 1. Nat Med. 2019 01; 25(1):176-187.
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Bianchetti E, Bates SJ, Carroll SL, Siegelin MD, Roth KA. Usp9X Regulates Cell Death in Malignant Peripheral Nerve Sheath Tumors. Sci Rep. 2018 11 26; 8(1):17390.
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Longo JF, Weber SM, Turner-Ivey BP, Carroll SL. Recent Advances in the Diagnosis and Pathogenesis of Neurofibromatosis Type 1 (NF1)-associated Peripheral Nervous System Neoplasms. Adv Anat Pathol. 2018 Sep; 25(5):353-368.
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Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A. Cutaneous neurofibromas: Current clinical and pathologic issues. Neurology. 2018 07 10; 91(2 Suppl 1):S5-S13.
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de Blank PMK, Fisher MJ, Liu GT, Gutmann DH, Listernick R, Ferner RE, Avery RA. Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision. J Neuroophthalmol. 2017 09; 37 Suppl 1:S23-S32.
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Hanemann CO, Blakeley JO, Nunes FP, Robertson K, Stemmer-Rachamimov A, Mautner V, Kurtz A, Ferguson M, Widemann BC, Evans DG, Ferner R, Carroll SL, Korf B, Wolkenstein P, Knight P, Plotkin SR. Current status and recommendations for biomarkers and biobanking in neurofibromatosis. Neurology. 2016 Aug 16; 87(7 Suppl 1):S40-8.
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Carroll SL. The Challenge of Cancer Genomics in Rare Nervous System Neoplasms: Malignant Peripheral Nerve Sheath Tumors as a Paradigm for Cross-Species Comparative Oncogenomics. Am J Pathol. 2016 Mar; 186(3):464-77.
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Levin MH, Armstrong GT, Broad JH, Zimmerman R, Bilaniuk LT, Feygin T, Li Y, Liu GT, Fisher MJ. Risk of optic pathway glioma in children with neurofibromatosis type 1 and optic nerve tortuosity or nerve sheath thickening. Br J Ophthalmol. 2016 Apr; 100(4):510-4.
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Brossier NM, Prechtl AM, Longo JF, Barnes S, Wilson LS, Byer SJ, Brosius SN, Carroll SL. Classic Ras Proteins Promote Proliferation and Survival via Distinct Phosphoproteome Alterations in Neurofibromin-Null Malignant Peripheral Nerve Sheath Tumor Cells. J Neuropathol Exp Neurol. 2015 Jun; 74(6):568-86.
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