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    Items: 1 to 20 of 296

    1.
    The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1
    Shanshan Chen, Hongrong Cheng, Guohua Zhao
    Neurosciences (Riyadh) 2024 Jul; 29(3): 177–183. doi: 10.17712/nsj.2024.3.20230003
    PMCID:
    PMC11305348
    AbstractArticlePDF–1.9M
    2.
    Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
    Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
    Cell. Author manuscript; available in PMC 2024 Oct 26.
    Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
    PMCID:
    PMC11209935
    AbstractArticlePDF–3.0M
    3.
    Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
    Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva
    Hum Genet. 2024; 143(6): 775–795. Published online 2024 Jun 14. doi: 10.1007/s00439-024-02683-0
    PMCID:
    PMC11186880
    AbstractArticlePDF–2.0M
    4.
    NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor
    Henry de Traux de Wardin, Josephine K. Dermawan, Fabio Vanoli, Samuel C. Jiang, Samuel Singer, Ping Chi, William Tap, Leonard H. Wexler, Cristina R. Antonescu
    JCO Precis Oncol. 2024; 8: e2300597. Published online 2024 Apr 11. doi: 10.1200/PO.23.00597
    PMCID:
    PMC11161258
    AbstractArticlePDF–1.5M
    5.
    Spatial gene expression profiling unveils immuno-oncogenic programs of NF1-associated peripheral nerve sheath tumor progression
    Dana K. Mitchell, Breanne Burgess, Emily E. White, Abbi E. Smith, Elizabeth A. Sierra Potchanant, Henry Mang, Brooke E. Hickey, Qingbo Lu, Shaomin Qian, Waylan Bessler, Xiaohong Li, Li Jiang, Kylee Brewster, Constance Temm, Andrew Horvai, Eric A. Albright, Melissa L. Fishel, Christine A. Pratilas, Steven P. Angus, D. Wade Clapp, Steven D. Rhodes
    Clin Cancer Res. Author manuscript; available in PMC 2024 Sep 1.
    Published in final edited form as: Clin Cancer Res. 2024 Mar 1; 30(5): 1038–1053. doi: 10.1158/1078-0432.CCR-23-2548
    PMCID:
    PMC11095977
    AbstractArticlePDF–3.2M
    6.
    Comparative interactome analysis of α-arrestin families in human and Drosophila
    Kyung-Tae Lee, Inez KA Pranoto, Soon-Young Kim, Hee-Joo Choi, Ngoc Bao To, Hansong Chae, Jeong-Yeon Lee, Jung-Eun Kim, Young V Kwon, Jin-Wu Nam
    eLife. 2024; 12: RP88328. Published online 2024 Jan 25. doi: 10.7554/eLife.88328
    PMCID:
    PMC10945707
    AbstractArticlePDF–2.8M
    7.
    Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
    Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
    Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
    PMCID:
    PMC10916866
    AbstractArticlePDF–4.7M
    8.
    NF1 deficiency drives metabolic reprogramming in ER+ breast cancer
    Rachel (Rae) J. House, Elizabeth A. Tovar, Luke N. Redlon, Curt J. Essenburg, Patrick S. Dischinger, Abigail E. Ellis, Ian Beddows, Ryan D. Sheldon, Evan C. Lien, Carrie R. Graveel, Matthew R. Steensma
    Mol Metab. 2024 Feb; 80: 101876. Published online 2024 Jan 10. doi: 10.1016/j.molmet.2024.101876
    PMCID:
    PMC10844973
    AbstractArticlePDF–3.5M
    9.
    Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia
    Leonard D. Kuhrt, Edyta Motta, Nirmeen Elmadany, Hannah Weidling, Raphaela Fritsche-Guenther, Ibrahim E. Efe, Olivia Cobb, Jit Chatterjee, Lucy G. Boggs, Marina Schnauß, Sebastian Diecke, Marcus Semtner, Corina Anastasaki, David H. Gutmann, Helmut Kettenmann
    Dis Model Mech. 2023 Dec 1; 16(12): dmm049861. Published online 2023 Dec 11. doi: 10.1242/dmm.049861
    PMCID:
    PMC10740172
    AbstractArticle
    10.
    A genotype–phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1
    Stephanie M. Morris, David H. Gutmann
    Neurology. 2018 Feb 20; 90(8): 377–379. doi: 10.1212/WNL.0000000000005000
    PMCID:
    PMC10681069
    ArticlePDF–154K
    11.
    Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey
    Hyun Kyoo Yoo, Alex Porteous, Alvin Ng, Keval Haria, Annabel Griffiths, Andrew Lloyd, Xiaoqin Yang, Gbenga Kazeem, Volkan Barut
    BMC Neurol. 2023; 23: 419. Published online 2023 Nov 23. doi: 10.1186/s12883-023-03429-7
    PMCID:
    PMC10666383
    AbstractArticlePDF–885K
    12.
    Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
    Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan
    Kidney Blood Press Res. 2023 Jan-Dec; 48(1): 568–577. Published online 2023 Aug 10. doi: 10.1159/000533144
    PMCID:
    PMC10614435
    AbstractArticle
    13.
    IGF2BP3 mediates the mRNA degradation of NF1 to promote triple‐negative breast cancer progression via an m6A‐dependent manner
    Xu Zhang, Liang Shi, Han‐Dong Sun, Zi‐Wen Wang, Feng Xu, Ji‐Fu Wei, Qiang Ding
    Clin Transl Med. 2023 Sep; 13(9): e1427. Published online 2023 Sep 24. doi: 10.1002/ctm2.1427
    PMCID:
    PMC10518495
    AbstractArticlePDF–3.9M
    14.
    Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory
    Samantha J. Booth, Shruti Garg, Laura J. E. Brown, Jonathan Green, Gorana Pobric, Jason R. Taylor
    J Neurodev Disord. 2023; 15: 27. Published online 2023 Aug 22. doi: 10.1186/s11689-023-09492-y
    PMCID:
    PMC10463416
    AbstractArticlePDF–1.8M
    15.
    Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
    Magdalena Koczkowska, Yunjia Chen, Jing Xie, Tom Callens, Alicia Gomes, Katharina Wimmer, Ludwine M. Messiaen
    Hum Genet. 2023; 142(7): 849–861. Published online 2023 Apr 25. doi: 10.1007/s00439-023-02555-z
    PMCID:
    PMC10329576
    AbstractArticlePDF–633K
    16.
    Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes
    Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A. López-Rivera, Dennis Lal, Costin Leu, Imad Najm, Peter Nürnberg, Jochen Herms, Patrick N. Harter, Christian G. Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till Hartlieb, Manfred Kudernatsch, Hajo Hamer, Sebastian Brandner, Karl Rössler, Ingmar Blümcke, Samir Jabari
    Acta Neuropathol. 2023; 145(6): 815–827. Published online 2023 Mar 27. doi: 10.1007/s00401-023-02561-5
    Correction in:
    Acta Neuropathol. 2023; 145(6): 851–855.
    PMCID:
    PMC10175344
    AbstractArticlePDF–3.7M
    17.
    The oncogenic role of NF1 in gallbladder cancer through regulation of YAP1 stability by direct interaction with YAP1
    Lingxiao Zhang, Lin Jiang, Ling Zeng, Zhaohui Jin, Xuanjia Dong, Yuhan Zhang, Litian Chen, Yijun Shu, Yingbin Liu, Ying Huang
    J Transl Med. 2023; 21: 306. Published online 2023 May 5. doi: 10.1186/s12967-023-04157-9
    PMCID:
    PMC10163693
    AbstractArticlePDF–2.8M
    18.
    Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
    Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
    Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
    PMCID:
    PMC10151615
    AbstractArticlePDF–2.9M
    19.
    Exploiting metabolic vulnerabilities in breast cancers with NF1 loss
    Yoon-Sim Yap, Jiancheng Hu
    Cell Rep Med. 2023 Apr 18; 4(4): 101010. Published online 2023 Apr 18. doi: 10.1016/j.xcrm.2023.101010
    PMCID:
    PMC10140605
    AbstractArticlePDF–1.9M
    20.
    The therapeutic potential of neurofibromin signaling pathways and binding partners
    Juan Báez-Flores, Mario Rodríguez-Martín, Jesus Lacal
    Commun Biol. 2023; 6: 436. Published online 2023 Apr 20. doi: 10.1038/s42003-023-04815-0
    PMCID:
    PMC10119308
    AbstractArticlePDF–2.2M

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