Experimental models of undifferentiated pleomorphic sarcoma and malignant peripheral nerve sheath tumor

Autor: Bhalla, Angela D., Landers, Sharon M., Singh, Anand K., Landry, Jace P., Yeagley, Michelle G., Myerson, Gabryella S.B., Delgado-Baez, Cristian B., Dunnand, Stephanie, Nguyen, Theresa, Ma, Xiaoyan, Bolshakov, Svetlana, Menegaz, Brian A., Lamhamedi-Cherradi, Salah-Eddine, Mao, Xizeng, Song, Xingzhi, Lazar, Alexander J., McCutcheon, Ian E., Slopis, John M., Ludwig, Joseph A., Lev, Dina C., Rai, Kunal, Torres, Keila E.

Publikováno v: In Laboratory Investigation June 2022 102(6):658-666

Neurofibromas of the Phrenic Nerve: A Case Report and Review of the Literature

Autor: Ghali, Michael G.Z., Srinivasan, Visish M., Jea, Andrew, Slopis, John M., McCutcheon, Ian E.

Publikováno v: In World Neurosurgery April 2016 88:237-242

Binding partners for curcumin in human schwannoma cells: Biologic Implications

Autor: Angelo, Laura S., Maxwell, David S., Wu, Ji Yuan, Sun, Duoli, Hawke, David H., McCutcheon, Ian E., Slopis, John M., Peng, Zhenghong, Bornmann, William G., Kurzrock, Razelle

Publikováno v: In Bioorganic & Medicinal Chemistry 15 February 2013 21(4):932-939

Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial.

Autor: Slopis, John M.^1,2, Arevalo, Octavio³, Bell, Cynthia S.², Hebert, Adelaide A.^2,4, Northrup, Hope², Riascos, Roy F.³, Samuels, Joshua A.², Smith, Keri C.⁵, Tate, Patti², Koenig, Mary Kay^2,6 mary.k.koenig@uth.tmc.edu

Publikováno v: Drugs in R&D. Dec2018, Vol. 18 Issue 4, p295-302. 8p.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Autor: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

Publikováno v: Human Mutation
Human mutation
HUMAN MUTATION

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8e6812a2caa160ce6729e5fdb8b7d05e
https://pubmed.ncbi.nlm.nih.gov/31595648