Neurofibromin 1 (English Wikipedia)

Upadhyaya M, Cooper DN, eds. (2012). Neurofibromatosis type 1: molecular and cellular biology. Springer Berlin Heidelberg. doi:10.1007/978-3-642-32864-0. ISBN 978-3-642-32863-3. S2CID 12164721.
Peltonen S, Kallionpää RA, Peltonen J (July 2017). "Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas". Experimental Dermatology. 26 (7): 645–648. doi:10.1111/exd.13212. PMID 27622733.
Trovó-Marqui AB, Tajara EH (July 2006). "Neurofibromin: a general outlook". Clinical Genetics. 70 (1): 1–13. doi:10.1111/j.1399-0004.2006.00639.x. PMID 16813595. S2CID 39428398.
Scheffzek K, Welti S (2012). "Neurofibromin: Protein Domains and Functional Characteristics". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 305–326. doi:10.1007/978-3-642-32864-0_20. ISBN 978-3-642-32864-0.
Boxel-Woolf TV, McCarthy KM (2025). "Speech and language skills in a case of Watson syndrome". Clinical Linguistics & Phonetics. 0: 1–24. doi:10.1080/02699206.2025.2472051. ISSN 0269-9206. PMID 40077991.
Peltonen S, Pöyhönen M (2012). "Clinical Diagnosis and Atypical Forms of NF1". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 17–30. doi:10.1007/978-3-642-32864-0_2. ISBN 978-3-642-32864-0.
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. (July 1990). "Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus". Cell. 62 (1): 187–192. doi:10.1016/0092-8674(90)90252-a. PMID 1694727. S2CID 34391036.
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. (July 1990). "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients". Science. 249 (4965). New York, N.Y.: 181–186. Bibcode:1990Sci...249..181W. doi:10.1126/science.2134734. PMID 2134734.
Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (March 1992). "The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes". Neuron. 8 (3): 415–428. doi:10.1016/0896-6273(92)90270-n. PMID 1550670. S2CID 13002437.
DeClue JE, Papageorge AG, Fletcher JA, Diehl SR, Ratner N, Vass WC, et al. (April 1992). "Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis". Cell. 69 (2): 265–273. doi:10.1016/0092-8674(92)90407-4. PMID 1568246. S2CID 24069520.
Daston MM, Ratner N (November 1992). "Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development". Developmental Dynamics. 195 (3): 216–226. doi:10.1002/aja.1001950307. PMID 1301085. S2CID 24316796.
Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, et al. (August 1990). "The neurofibromatosis type 1 gene encodes a protein related to GAP". Cell. 62 (3): 599–608. doi:10.1016/0092-8674(90)90024-9. PMID 2116237. S2CID 42886796.
Li H, Wallace MR (2012). "NF1 Gene: Promoter, 5′ UTR, and 3′ UTR". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 105–113. doi:10.1007/978-3-642-32864-0_9. ISBN 978-3-642-32864-0.
Lee TK, Friedman JM (August 2005). "Analysis of NF1 transcriptional regulatory elements". American Journal of Medical Genetics. Part A. 137 (2): 130–135. doi:10.1002/ajmg.a.30699. PMID 16059932. S2CID 34038553.
Zou MX, Butcher DT, Sadikovic B, Groves TC, Yee SP, Rodenhiser DI (January 2004). "Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region". Oncogene. 23 (2): 330–339. doi:10.1038/sj.onc.1207053. PMID 14647436.
Haeussler J, Haeusler J, Striebel AM, Assum G, Vogel W, Furneaux H, et al. (January 2000). "Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA". Biochemical and Biophysical Research Communications. 267 (3): 726–732. Bibcode:2000BBRC..267..726H. doi:10.1006/bbrc.1999.2019. PMID 10673359.
Baralle M, Baralle D (2012). "Splicing Mechanisms and Mutations in the NF1 Gene". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1. Berlin, Heidelberg: Springer. pp. 135–150. doi:10.1007/978-3-642-32864-0_11. ISBN 978-3-642-32864-0.
Pasmant E, Vidaud D (May 2016). "Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View". eBioMedicine. 7: 21–22. doi:10.1016/j.ebiom.2016.04.036. PMC 4909605. PMID 27322453.
Kaufmann D, Müller R, Kenner O, Leistner W, Hein C, Vogel W, et al. (June 2002). "The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment". Biochemical and Biophysical Research Communications. 294 (2): 496–503. Bibcode:2002BBRC..294..496K. doi:10.1016/S0006-291X(02)00501-6. PMID 12051738.
Skuse GR, Cappione AJ, Sowden M, Metheny LJ, Smith HC (February 1996). "The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing". Nucleic Acids Research. 24 (3): 478–485. doi:10.1093/nar/24.3.478. PMC 145654. PMID 8602361.
Woodrow C, Clarke A, Amirfeyz R (2015). "Neurofibromatosis". Orthopaedics and Trauma. 29 (3): 206–210. doi:10.1016/j.mporth.2015.02.004. S2CID 239484110.
Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (January 2009). "Neurofibromatosis type 1 revisited". Pediatrics. 123 (1): 124–133. doi:10.1542/peds.2007-3204. PMID 19117870. S2CID 20093566.
Ward BA, Gutmann DH (April 2005). "Neurofibromatosis 1: from lab bench to clinic". Pediatric Neurology. 32 (4): 221–228. doi:10.1016/j.pediatrneurol.2004.11.002. PMID 15797177.
Walker JA, Upadhyaya M (May 2018). "Emerging therapeutic targets for neurofibromatosis type 1". Expert Opinion on Therapeutic Targets. 22 (5): 419–437. doi:10.1080/14728222.2018.1465931. PMC 7017752. PMID 29667529.
Walker JA, Gouzi JY, Bernards A (2012). "Drosophila: An Invertebrate Model of NF1. (Chapter 34)". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1: molecular and cellular biology. Springer Berlin Heidelberg. pp. 523–534. doi:10.1007/978-3-642-32864-0_34. ISBN 978-3-642-32863-3.
Padmanabhan A, Epstein JA (2012). "Zebrafish Model for NF1. (Chapter 35)". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1: molecular and cellular Biology. Springer Berlin Heidelberg. pp. 535–547. doi:10.1007/978-3-642-32864-0_35. ISBN 978-3-642-32863-3.
Maertens O, Cichowski K (2012). "Advances in NF1 Animal Models and Lessons Learned. (Chapter 33)". In Upadhyaya M, Cooper D (eds.). Neurofibromatosis Type 1: molecular and cellular Biology. Springer Berlin Heidelberg. pp. 513–521. doi:10.1007/978-3-642-32864-0_33. ISBN 978-3-642-32863-3.
Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, et al. (May 1994). "Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues". Genes & Development. 8 (9): 1019–1029. doi:10.1101/gad.8.9.1019. PMID 7926784.
Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA (July 1994). "Tumour predisposition in mice heterozygous for a targeted mutation in Nf1". Nature Genetics. 7 (3): 353–361. doi:10.1038/ng0794-353. PMID 7920653. S2CID 1792087.
Maertens O, McCurrach ME, Braun BS, De Raedt T, Epstein I, Huang TQ, et al. (November 2017). "A Collaborative Model for Accelerating the Discovery and Translation of Cancer Therapies". Cancer Research. 77 (21): 5706–5711. doi:10.1158/0008-5472.CAN-17-1789. PMC 5668167. PMID 28993414.
Wu J, Dombi E, Jousma E, Scott Dunn R, Lindquist D, Schnell BM, et al. (February 2012). "Preclincial testing of sorafenib and RAD001 in the Nf(flox/flox) ;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging". Pediatric Blood & Cancer. 58 (2): 173–180. doi:10.1002/pbc.23015. PMC 3128176. PMID 21319287.
Johannessen CM, Johnson BW, Williams SM, Chan AW, Reczek EE, Lynch RC, et al. (January 2008). "TORC1 is essential for NF1-associated malignancies". Current Biology. 18 (1): 56–62. Bibcode:2008CBio...18...56J. doi:10.1016/j.cub.2007.11.066. PMID 18164202. S2CID 16894483.
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, et al. (November 2005). "The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1". Current Biology. 15 (21): 1961–1967. Bibcode:2005CBio...15.1961L. doi:10.1016/j.cub.2005.09.043. PMID 16271875. S2CID 12826598.
Weiss JB, Weber S, Marzulla T, Raber J (August 2017). "Pharmacological inhibition of Anaplastic Lymphoma Kinase rescues spatial memory impairments in Neurofibromatosis 1 mutant mice". Behavioural Brain Research. 332: 337–342. doi:10.1016/j.bbr.2017.06.024. PMID 28629962. S2CID 38067112.
Jessen WJ, Miller SJ, Jousma E, Wu J, Rizvi TA, Brundage ME, et al. (January 2013). "MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors". The Journal of Clinical Investigation. 123 (1): 340–347. doi:10.1172/JCI60578. PMC 3533264. PMID 23221341.
Chang T, Krisman K, Theobald EH, Xu J, Akutagawa J, Lauchle JO, et al. (January 2013). "Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice". The Journal of Clinical Investigation. 123 (1): 335–339. doi:10.1172/JCI63193. PMC 3533281. PMID 23221337.
Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, et al. (December 2016). "Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas". The New England Journal of Medicine. 375 (26): 2550–2560. doi:10.1056/NEJMoa1605943. PMC 5508592. PMID 28029918.
Gross AM, Wolters P, Baldwin A, Dombi E, Fisher MJ, Weiss BD, et al. (May 2018). "SPRINT: Phase II study of the MEK 1/2 inhibitor selumetinib (AZD6244, ARRY-142886) in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PN)". Journal of Clinical Oncology. 36 (15_suppl) 10503. doi:10.1200/JCO.2018.36.15_suppl.10503.
The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, et al. (May 1997). "Rescue of a Drosophila NF1 mutant phenotype by protein kinase A". Science. 276 (5313). New York, N.Y.: 791–794. doi:10.1126/science.276.5313.791. PMID 9115203.
Walker JA, Tchoudakova AV, McKenney PT, Brill S, Wu D, Cowley GS, et al. (December 2006). "Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons". Genes & Development. 20 (23): 3311–3323. doi:10.1101/gad.1466806. PMC 1686607. PMID 17114577.
Gouzi JY, Moressis A, Walker JA, Apostolopoulou AA, Palmer RH, Bernards A, et al. (September 2011). "The receptor tyrosine kinase Alk controls neurofibromin functions in Drosophila growth and learning". PLOS Genetics. 7 (9) e1002281. doi:10.1371/journal.pgen.1002281. PMC 3174217. PMID 21949657.
Walker JA, Gouzi JY, Long JB, Huang S, Maher RC, Xia H, et al. (November 2013). "Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency". PLOS Genetics. 9 (11) e1003958. doi:10.1371/journal.pgen.1003958. PMC 3836801. PMID 24278035.
Waddell S, Quinn WG (2001). "Flies, Genes, and Learning". Annual Review of Neuroscience. 24 (1). Annual Reviews: 1283–1309. doi:10.1146/annurev.neuro.24.1.1283. ISSN 0147-006X. PMID 11520934.
Zhong Y (June 1995). "Mediation of PACAP-like neuropeptide transmission by coactivation of Ras/Raf and cAMP signal transduction pathways in Drosophila". Nature. 375 (6532): 588–592. Bibcode:1995Natur.375..588Z. doi:10.1038/375588a0. PMID 7791875. S2CID 4264455.
Guo HF, The I, Hannan F, Bernards A, Zhong Y (May 1997). "Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides". Science. 276 (5313). New York, N.Y.: 795–798. doi:10.1126/science.276.5313.795. PMID 9115204.
Williams JA, Su HS, Bernards A, Field J, Sehgal A (September 2001). "A circadian output in Drosophila mediated by neurofibromatosis-1 and Ras/MAPK". Science. 293 (5538). New York, N.Y.: 2251–2256. Bibcode:2001Sci...293.2251W. doi:10.1126/science.1063097. PMID 11567138. S2CID 23175890.
Tong JJ, Schriner SE, McCleary D, Day BJ, Wallace DC (April 2007). "Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster". Nature Genetics. 39 (4): 476–485. doi:10.1038/ng2004. PMID 17369827. S2CID 21339165.
Guo HF, Tong J, Hannan F, Luo L, Zhong Y (February 2000). "A neurofibromatosis-1-regulated pathway is required for learning in Drosophila". Nature. 403 (6772): 895–898. Bibcode:2000Natur.403..895G. doi:10.1038/35002593. PMID 10706287. S2CID 4324809.
Ho IS, Hannan F, Guo HF, Hakker I, Zhong Y (June 2007). "Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation". The Journal of Neuroscience. 27 (25): 6852–6857. doi:10.1523/JNEUROSCI.0933-07.2007. PMC 6672704. PMID 17581973.
Buchanan ME, Davis RL (July 2010). "A distinct set of Drosophila brain neurons required for neurofibromatosis type 1-dependent learning and memory". The Journal of Neuroscience. 30 (30): 10135–10143. doi:10.1523/JNEUROSCI.0283-10.2010. PMC 2917756. PMID 20668197.
Weiss JB, Weber SJ, Torres ER, Marzulla T, Raber J (March 2017). "Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments in Neurofibromatosis 1 mutant mice". Behavioural Brain Research. 321: 148–156. doi:10.1016/j.bbr.2017.01.003. PMID 28057529.

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ui.adsabs.harvard.edu

Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. (July 1990). "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients". Science. 249 (4965). New York, N.Y.: 181–186. Bibcode:1990Sci...249..181W. doi:10.1126/science.2134734. PMID 2134734.
Haeussler J, Haeusler J, Striebel AM, Assum G, Vogel W, Furneaux H, et al. (January 2000). "Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA". Biochemical and Biophysical Research Communications. 267 (3): 726–732. Bibcode:2000BBRC..267..726H. doi:10.1006/bbrc.1999.2019. PMID 10673359.
Kaufmann D, Müller R, Kenner O, Leistner W, Hein C, Vogel W, et al. (June 2002). "The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment". Biochemical and Biophysical Research Communications. 294 (2): 496–503. Bibcode:2002BBRC..294..496K. doi:10.1016/S0006-291X(02)00501-6. PMID 12051738.
Johannessen CM, Johnson BW, Williams SM, Chan AW, Reczek EE, Lynch RC, et al. (January 2008). "TORC1 is essential for NF1-associated malignancies". Current Biology. 18 (1): 56–62. Bibcode:2008CBio...18...56J. doi:10.1016/j.cub.2007.11.066. PMID 18164202. S2CID 16894483.
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, et al. (November 2005). "The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1". Current Biology. 15 (21): 1961–1967. Bibcode:2005CBio...15.1961L. doi:10.1016/j.cub.2005.09.043. PMID 16271875. S2CID 12826598.
Zhong Y (June 1995). "Mediation of PACAP-like neuropeptide transmission by coactivation of Ras/Raf and cAMP signal transduction pathways in Drosophila". Nature. 375 (6532): 588–592. Bibcode:1995Natur.375..588Z. doi:10.1038/375588a0. PMID 7791875. S2CID 4264455.
Williams JA, Su HS, Bernards A, Field J, Sehgal A (September 2001). "A circadian output in Drosophila mediated by neurofibromatosis-1 and Ras/MAPK". Science. 293 (5538). New York, N.Y.: 2251–2256. Bibcode:2001Sci...293.2251W. doi:10.1126/science.1063097. PMID 11567138. S2CID 23175890.
Guo HF, Tong J, Hannan F, Luo L, Zhong Y (February 2000). "A neurofibromatosis-1-regulated pathway is required for learning in Drosophila". Nature. 403 (6772): 895–898. Bibcode:2000Natur.403..895G. doi:10.1038/35002593. PMID 10706287. S2CID 4324809.

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"Koselugo website for Healthcare Professionals". Retrieved 8 July 2021.

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"Selumetinib granted US Breakthrough Therapy Designation in neurofibromatosis type 1" (Press release). AstraZeneca and Merck & Co. 1 April 2019. Retrieved 1 April 2019.

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- Source for main symptoms: "Neurofibromatosis". Mayo Clinic. 21 January 2021.
- Image by Mikael Häggström, MD, using source images by various authors.

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Peltonen S, Kallionpää RA, Peltonen J (July 2017). "Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas". Experimental Dermatology. 26 (7): 645–648. doi:10.1111/exd.13212. PMID 27622733.
Trovó-Marqui AB, Tajara EH (July 2006). "Neurofibromin: a general outlook". Clinical Genetics. 70 (1): 1–13. doi:10.1111/j.1399-0004.2006.00639.x. PMID 16813595. S2CID 39428398.
Boxel-Woolf TV, McCarthy KM (2025). "Speech and language skills in a case of Watson syndrome". Clinical Linguistics & Phonetics. 0: 1–24. doi:10.1080/02699206.2025.2472051. ISSN 0269-9206. PMID 40077991.
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. (July 1990). "Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus". Cell. 62 (1): 187–192. doi:10.1016/0092-8674(90)90252-a. PMID 1694727. S2CID 34391036.
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. (July 1990). "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients". Science. 249 (4965). New York, N.Y.: 181–186. Bibcode:1990Sci...249..181W. doi:10.1126/science.2134734. PMID 2134734.
Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (March 1992). "The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes". Neuron. 8 (3): 415–428. doi:10.1016/0896-6273(92)90270-n. PMID 1550670. S2CID 13002437.
Hattori S, Maekawa M, Nakamura S (March 1992). "Identification of neurofibromatosis type I gene product as an insoluble GTPase-activating protein toward ras p21". Oncogene. 7 (3): 481–485. PMID 1549362.
DeClue JE, Papageorge AG, Fletcher JA, Diehl SR, Ratner N, Vass WC, et al. (April 1992). "Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis". Cell. 69 (2): 265–273. doi:10.1016/0092-8674(92)90407-4. PMID 1568246. S2CID 24069520.
Daston MM, Ratner N (November 1992). "Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development". Developmental Dynamics. 195 (3): 216–226. doi:10.1002/aja.1001950307. PMID 1301085. S2CID 24316796.
Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, et al. (August 1990). "The neurofibromatosis type 1 gene encodes a protein related to GAP". Cell. 62 (3): 599–608. doi:10.1016/0092-8674(90)90024-9. PMID 2116237. S2CID 42886796.
Abramowicz A, Gos M (July 2014). "Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease". Developmental Period Medicine. 18 (3): 297–306. PMID 25182393.
Lee TK, Friedman JM (August 2005). "Analysis of NF1 transcriptional regulatory elements". American Journal of Medical Genetics. Part A. 137 (2): 130–135. doi:10.1002/ajmg.a.30699. PMID 16059932. S2CID 34038553.
Zou MX, Butcher DT, Sadikovic B, Groves TC, Yee SP, Rodenhiser DI (January 2004). "Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region". Oncogene. 23 (2): 330–339. doi:10.1038/sj.onc.1207053. PMID 14647436.
Haeussler J, Haeusler J, Striebel AM, Assum G, Vogel W, Furneaux H, et al. (January 2000). "Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA". Biochemical and Biophysical Research Communications. 267 (3): 726–732. Bibcode:2000BBRC..267..726H. doi:10.1006/bbrc.1999.2019. PMID 10673359.
Pasmant E, Vidaud D (May 2016). "Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View". eBioMedicine. 7: 21–22. doi:10.1016/j.ebiom.2016.04.036. PMC 4909605. PMID 27322453.
Kaufmann D, Müller R, Kenner O, Leistner W, Hein C, Vogel W, et al. (June 2002). "The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment". Biochemical and Biophysical Research Communications. 294 (2): 496–503. Bibcode:2002BBRC..294..496K. doi:10.1016/S0006-291X(02)00501-6. PMID 12051738.
Cappione AJ, French BL, Skuse GR (February 1997). "A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors". American Journal of Human Genetics. 60 (2): 305–312. PMC 1712412. PMID 9012403.
Skuse GR, Cappione AJ, Sowden M, Metheny LJ, Smith HC (February 1996). "The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing". Nucleic Acids Research. 24 (3): 478–485. doi:10.1093/nar/24.3.478. PMC 145654. PMID 8602361.
Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (January 2009). "Neurofibromatosis type 1 revisited". Pediatrics. 123 (1): 124–133. doi:10.1542/peds.2007-3204. PMID 19117870. S2CID 20093566.
Ward BA, Gutmann DH (April 2005). "Neurofibromatosis 1: from lab bench to clinic". Pediatric Neurology. 32 (4): 221–228. doi:10.1016/j.pediatrneurol.2004.11.002. PMID 15797177.
Walker JA, Upadhyaya M (May 2018). "Emerging therapeutic targets for neurofibromatosis type 1". Expert Opinion on Therapeutic Targets. 22 (5): 419–437. doi:10.1080/14728222.2018.1465931. PMC 7017752. PMID 29667529.
Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, et al. (May 1994). "Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues". Genes & Development. 8 (9): 1019–1029. doi:10.1101/gad.8.9.1019. PMID 7926784.
Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA (July 1994). "Tumour predisposition in mice heterozygous for a targeted mutation in Nf1". Nature Genetics. 7 (3): 353–361. doi:10.1038/ng0794-353. PMID 7920653. S2CID 1792087.
Maertens O, McCurrach ME, Braun BS, De Raedt T, Epstein I, Huang TQ, et al. (November 2017). "A Collaborative Model for Accelerating the Discovery and Translation of Cancer Therapies". Cancer Research. 77 (21): 5706–5711. doi:10.1158/0008-5472.CAN-17-1789. PMC 5668167. PMID 28993414.
Wu J, Dombi E, Jousma E, Scott Dunn R, Lindquist D, Schnell BM, et al. (February 2012). "Preclincial testing of sorafenib and RAD001 in the Nf(flox/flox) ;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging". Pediatric Blood & Cancer. 58 (2): 173–180. doi:10.1002/pbc.23015. PMC 3128176. PMID 21319287.
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ncbi.nlm.nih.gov

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Chang T, Krisman K, Theobald EH, Xu J, Akutagawa J, Lauchle JO, et al. (January 2013). "Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice". The Journal of Clinical Investigation. 123 (1): 335–339. doi:10.1172/JCI63193. PMC 3533281. PMID 23221337.
Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, et al. (December 2016). "Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas". The New England Journal of Medicine. 375 (26): 2550–2560. doi:10.1056/NEJMoa1605943. PMC 5508592. PMID 28029918.
Walker JA, Tchoudakova AV, McKenney PT, Brill S, Wu D, Cowley GS, et al. (December 2006). "Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons". Genes & Development. 20 (23): 3311–3323. doi:10.1101/gad.1466806. PMC 1686607. PMID 17114577.
Gouzi JY, Moressis A, Walker JA, Apostolopoulou AA, Palmer RH, Bernards A, et al. (September 2011). "The receptor tyrosine kinase Alk controls neurofibromin functions in Drosophila growth and learning". PLOS Genetics. 7 (9) e1002281. doi:10.1371/journal.pgen.1002281. PMC 3174217. PMID 21949657.
Walker JA, Gouzi JY, Long JB, Huang S, Maher RC, Xia H, et al. (November 2013). "Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency". PLOS Genetics. 9 (11) e1003958. doi:10.1371/journal.pgen.1003958. PMC 3836801. PMID 24278035.
Ho IS, Hannan F, Guo HF, Hakker I, Zhong Y (June 2007). "Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation". The Journal of Neuroscience. 27 (25): 6852–6857. doi:10.1523/JNEUROSCI.0933-07.2007. PMC 6672704. PMID 17581973.
Buchanan ME, Davis RL (July 2010). "A distinct set of Drosophila brain neurons required for neurofibromatosis type 1-dependent learning and memory". The Journal of Neuroscience. 30 (30): 10135–10143. doi:10.1523/JNEUROSCI.0283-10.2010. PMC 2917756. PMID 20668197.

semanticscholar.org (Global: 11^th place; English: 8^th place)

api.semanticscholar.org

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"UniProt". www.uniprot.org. Retrieved 8 August 2024.

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commons.wikimedia.org

- Source for main symptoms: "Neurofibromatosis". Mayo Clinic. 21 January 2021.
- Image by Mikael Häggström, MD, using source images by various authors.

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Boxel-Woolf TV, McCarthy KM (2025). "Speech and language skills in a case of Watson syndrome". Clinical Linguistics & Phonetics. 0: 1–24. doi:10.1080/02699206.2025.2472051. ISSN 0269-9206. PMID 40077991.
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Neurofibromin 1 (English Wikipedia)

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