Neurofibromatosis type 1 with three synchronous tumors.

Authors: Kakkat, Shanavas¹, Zacharia, George Sarin², Ravindran, Rohit¹, Poovan, Chothisha³, Jacob, Anu⁴ anuajcbo@yahoo.co.in

Source: Journal of Rare Diseases. 2/5/2024, Vol. 3 Issue 1, p1-5. 5p.

Subject Terms: *NEUROFIBROMATOSIS, *NEUROFIBROMIN, *GASTROINTESTINAL disease diagnosis, *IMMUNOCHEMISTRY, *TUMORS

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes

Authors: Michael Chang, Mohamed Sherief, Maria Ioannou, Viveka Chinnasamy, Lucy Chen, Michael Frost, Michelle Mattson-Hoss, Herb Sarnoff, David O. Kamson, Matthias Holdhoff, Debraj Mukherjee, Chetan Bettegowda, Jordina Rincon-Torroella, Victoria Croog, Peng Huang, Fausto J. Rodriguez, Calixto-Hope G. Lucas, Karisa C. Schreck

Source: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-10 (2024)

Subject Terms: Neurofibromin, NF1, Biomarker, Glioblastoma, High-grade glioma, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/750d716ba61347bc87ffa9e517a87e9c

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

Authors: Valentina Botero, Seth M. Tomchik

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)

Subject Terms: Neurofibromatosis type 1, Neurofibromin, NF1, Metabolism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/eab0c970f37d4a3996d3c77566b3abd4

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

Authors: Chohan, Harleen¹, Esfandiarei, Mitra^2,3 mesfan@midwestern.edu, Arman, Darian², Van Raamsdonk, Catherine D.¹, van Breemen, Cornelis², Friedman, Jan M.¹, Jett, Kimberly A.¹

Source: PLoS ONE. 12/20/2018, Vol. 13 Issue 12, p1-13. 13p.

Subject Terms: *NEUROFIBROMIN, *SPERMATOGENESIS, *NEUROFIBROMATOSIS 1, *LEYDIG cells, *MORPHOMETRICS

The association of NF2 (neurofibromin 2) gene polymorphism and the risk of medulloblastomas.

Authors: Zhao, Cailei^1,2,3, Chen, Qian⁴ chenqian68@126.com, Li, Chunde⁵ 13366077663@163.com, Yang, Jian² yangjian1118@yeah.net, Li, Cong⁴, Zhou, Yangyang³, Liao, Jianxiang⁶ jianxiangliao1118@yeah.net

Source: Neurological Sciences. Jul2018, Vol. 39 Issue 7, p1175-1183. 9p. 2 Diagrams, 2 Charts, 4 Graphs.

Subject Terms: *NEUROFIBROMIN, *GENETIC polymorphisms, *GENETIC mutation, *MEDULLOBLASTOMA, *POLYMERASE chain reaction

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.

Authors: Tripolszki, K.¹, Farkas, K.², Sulák, A.¹, Szolnoky, G.³, Duga, B.⁴, Melegh, B.⁴, Knox, R. G.⁵, Parker, V. E. R.⁵, Semple, R. K.⁵, Kemény, L.^2,3, Széll, M.^1,2, Nagy, N.^1,2,3 nikoletta.nagy@gmail.com

Source: Clinical & Experimental Dermatology. Oct2017, Vol. 42 Issue 7, p763-766. 4p.

Subject Terms: *NEUROFIBROMIN, *HYPERTROPHY, *NUCLEOTIDE sequencing, *PHENOTYPES, *DIAGNOSIS

Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report

Authors: Hideki Nagano, Shigekazu Ohyama, Atsushi Sato, Jun Igarashi, Tomoko Yamamoto, Masumi Kadoya, Mikiko Kobayashi

Source: Diagnostic Pathology, Vol 18, Iss 1, Pp 1-8 (2023)

Subject Terms: Gastrointestinal stromal tumor, Neurofibromatosis type 1, Jejunum, Neurofibromin, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/1746-1596

Access URL: https://doaj.org/article/9079a1b14dff4c70ae2826a2dfc6b9c7

A machine learning classifier trained on cancer transcriptomes detects NF1 inactivation signal in glioblastoma.

Authors: Way, Gregory P.^1,2, Allaway, Robert J.³, Bouley, Stephanie J.³, Fadul, Camilo E.⁴, Sanchez, Yolanda^3,5 Yolanda.Sanchez@dartmouth.edu, Greene, Casey S.² csgreene@mail.med.upenn.edu

Source: BMC Genomics. 2/6/2017, Vol. 18, p1-11. 11p. 2 Color Photographs, 1 Graph.

Subject Terms: *NEUROFIBROMIN, *TUMOR suppressor genes, *GENETIC mutation, *CELL lines, *CANCER diagnosis, *MACHINE learning

Highlights of Issue 7, 2018.

Source: Neurological Sciences. Jul2018, Vol. 39 Issue 7, p1147-1149. 3p.

Subject Terms: *NEUROFIBROMIN, *GENETIC polymorphisms

A multidisciplinary approach in the management of a patient with familial von Recklinghausen’s disease: A case report and review of literature

Authors: Aditya Sharma, Rakesh Kumar Mishra

Source: Amrita Journal of Medicine, Vol 19, Iss 3, Pp 150-155 (2023)

Subject Terms: familial disease, gross total resection (gtr), neurofibromatosis 1 (nf1), neurofibromin, von recklinghausen disease, Medicine

File Description: electronic resource

Relation: https://journals.lww.com/amjm/fulltext/2023/19030/a_multidisciplinary_approach_in_the_management_of.10.aspx; https://doaj.org/toc/2772-2805

Access URL: https://doaj.org/article/ec2b4d77a5ee4783ae95a6c07eae9452

Feedback activation of neurofibromin terminates growth factor-induced Ras activation.

Authors: Hennig, Anne¹, Markwart, Robby¹, Wolff, Katharina¹, Schubert, Katja¹, Yan Cui², Prior, Ian A.³, Esparza-Franco, Manuel A.⁴, Ladds, Graham⁵, Rubio, Ignacio^1,6 ignacio.rubio@med.uni-jena.de

Source: Cell Communication & Signaling. 2/9/2016, Vol. 14, p1-14. 14p.

Subject Terms: *NEUROFIBROMIN, *GROWTH factors, *NUCLEOTIDE exchange factors, *GUANOSINE triphosphate, *NEUROFIBROMATOSIS

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Authors: Lifton, Richard P, Cheng, Elaine¹, Halaban, Ruth¹, McCusker, James P², Ma, Shuangge³, Sznol, Mario⁴, Krauthammer, Michael, Serin, Merdan¹, Evans, Perry⁵, Mane, Shrikant, Bacchiocchi, Antonella¹, Pornputtapong, Natapol², Narayan, Deepak⁶, Kluger, Harriet M⁴, Bosenberg, Marcus, Kong, Yong⁷, Wu, Cen³, Ariyan, Stephan⁶, Schlessinger, Joseph⁸, Straub, Robert¹

Source: Nature Genetics. Sep2015, Vol. 47 Issue 9, p996-1002. 7p. 1 Diagram, 4 Charts, 2 Graphs.

Subject Terms: *MELANOMA, *NEUROFIBROMIN, *RAS oncogenes, *BRAF genes, *GUANOSINE triphosphatase

Neuroprotective role of FOXA1 in Parkinson's disease: Involvements of NF1 transcription activation and MAPK signaling pathway inhibition

Authors: Yu Fan, Meili Zhao, Fei Hao, Ruyi Sun, Jinyu Chen, Jiahui Liu

Source: Brain Research Bulletin, Vol 206, Iss , Pp 110860- (2024)

Subject Terms: Parkinson's disease, Forkhead box A1, Neurofibromin 1, MAPK signaling pathway, Neuroprotection, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S036192302300285X; https://doaj.org/toc/1873-2747

Access URL: https://doaj.org/article/766fdf46c44f4e2d8190e5bba96c8623

The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1

Authors: Lingxiao Zhang, Lin Jiang, Ling Zeng, Zhaohui Jin, Xuanjia Dong, Yuhan Zhang, Litian Chen, Yijun Shu, Yingbin Liu, Ying Huang

Source: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)

Subject Terms: Neurofibromin 1 (NF1), Gallbladder cancer (GBC), YAP1, Hippo pathway, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/e045a64cfa93487a8224b3005f0d1cb8

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

Authors: Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz

Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

Subject Terms: Neurofibromatosis 1, Neurofibromin 1, Pseudoachondroplasia, Cartilage oligomeric matrix protein, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/01050638aada46d6a2a539e23c80c091

Neurofibromatosis type 1-dependent alterations in mouse microglia function are not cell-intrinsic

Authors: Francesca Logiacco, Laura Cathleen Grzegorzek, Elizabeth C. Cordell, Oliver Popp, Philipp Mertins, David H. Gutmann, Helmut Kettenmann, Marcus Semtner

Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-14 (2023)

Subject Terms: Neurofibromin, NF1, Purinergic signaling, Sex differences, Microglia, Cortex, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/9d5a9756881946f5958a17392cf3aabf

CT of malignant peripheral nerve sheath tumor

Authors: Elias Lugo-Fagundo, BS, Carolina Lugo-Fagundo, MD, Edmund Weisberg, MS, MBE, Elliot K. Fishman, MD

Source: Radiology Case Reports, Vol 18, Iss 2, Pp 620-623 (2023)

Subject Terms: Malignant peripheral nerve sheath tumor, Neurofibromatosis type 1, Neurofibromin 1 gene, Computed tomography, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043322009839; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/cc356c32036d4b40b436c65f05ef22bf

The Hippo pathway and human cancer.

Authors: Harvey, Kieran F.¹, Zhang, Xiaomeng¹, Thomas, David M.¹

Source: Nature Reviews Cancer. Apr2013, Vol. 13 Issue 4, p246-257. 12p.

Subject Terms: *NEUROFIBROMIN, *GERM cells, *SOMATIC cells, *TUMOR suppressor genes, *DROSOPHILA melanogaster, *CANCER invasiveness

Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice.

Authors: Deo, Mugdha¹, Huang, Jenny Li-Ying¹, Van Raamsdonk, Catherine D.¹ cvr@mail.ubc.ca

Source: PLoS ONE. Mar2013, Vol. 8 Issue 3, p1-6. 6p.

Subject Terms: *GENETICS, *NEUROFIBROMIN, *ENDOTHELIN receptors, *LABORATORY mice, *GENETIC mutation, *PHENOTYPES, *NEUROFIBROMATOSIS, *CELLULAR signal transduction

Neurofibromin 1 Is a miRNA Target in Neurons.

Authors: Paschou, Maria¹, Doxakis, Epaminondas¹ edoxakis@bioacademy.gr

Source: PLoS ONE. Oct2012, Vol. 7 Issue 10, Special section p1-11. 11p.

Subject Terms: *NEUROFIBROMATOSIS, *NEUROFIBROMIN, *MICRORNA, *BINDING sites, *NEURONS, *SCHWANN cells