Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial

Autor: Giselle L. Saulnier Sholler, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline Kraveka, William Ferguson, Abhinav B. Nagulapally, Karl Dykema, Valerie I. Brown, Michael S. Isakoff, Joseph Junewick, Deanna Mitchell, Jawhar Rawwas, William Roberts, Don Eslin, Javier Oesterheld, Randal K. Wada, Devang Pastakia, Virginia Harrod, Kevin Ginn, Raya Saab, Kevin Bielamowicz, Jason Glover, Eugenia Chang, Gina K. Hanna, Daniel Enriquez, Tyler Izatt, Rebecca F. Halperin, Abigail Moore, Sara A. Byron, William P. D. Hendricks, Jeffrey M. Trent

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)

Abstract Background Children with relapsed central nervous system (CNS tumors), neuroblastoma, sarcomas, and other rare solid tumors face poor outcomes. This prospective clinical trial examined the feasibility of combining genomic and transcriptomic

Externí odkaz: https://doaj.org/article/aabaaa1d731d43219ab2b7d7fb61c753

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Autor: Claudia A. L. Ruivenkamp, Lewis Pang, Nienke P. Dosa, Gemma L. Carvill, Rolph Pfundt, Joseph Junewick, Geoffrey T. Swanson, Nicole de Leeuw, Xing-Chang Wei, Katrin Õunap, Cacha M.P.C.D. Peeters-Scholte, Jacob R. Stolz, Reelika Part, Ionella Rebane, Zornitza Stark, Karen J. Low, Kendall M. Foote, Edwin P. Kirk, Joanna Kennedy, Steven M. Sperber, Sebastian Lunke, Sander Pajusalu, R. Curtis Rogers, Robert Roger Lebel, Jessica M. Davis, Hermine E. Veenstra-Knol, Sanne W. ten Broeke, Raymond J. Louie, A. Micheil Innes, Boris Keren, Ai Sakonju, Daniela Q.C.M. Barge-Schaapveld, John Christodoulou, Paul R. Mark, John A. Lawson, Bregje W.M. van Bon, Laura Roht, Cyril Mignot, Sian Ellard

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b1bb904407e09cee9b444bcf7c262f
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0

Avalanche decision schemes to improve pediatric rib fracture detection

Autor: Jonathan Burkow, Gregory Holste, Jeffrey Otjen, Francisco Perez, Joseph Junewick, Adam Alessio

Publikováno v: Medical Imaging 2022: Computer-Aided Diagnosis.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d05fc4019d4bf7a22be159453f448b2
https://doi.org/10.1117/12.2611013

Author response: Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

Autor: Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98e12329919bc0df2f58b173807912f1
https://doi.org/10.7554/elife.67097.sa2

Maintenance DFMO Increases Survival in High Risk Neuroblastoma

Autor: Susan Sencer, Deanna Mitchell, Jessica Foley, Randal K. Wada, Joseph Junewick, Jeffrey P. Bond, Debra Pankiewicz, William Roberts, Monique Quinn, Jawhar Rawwas, William S. Ferguson, Javier Oesterheld, Giselle Saulnier Sholler, Jacqueline M. Kraveka, Valerie I. Brown, Kathleen A. Neville, Don Eslin, Francis Eshun, Genevieve Bergendahl, Peter E. Zage, Maria Rich, Nehal Parikh

Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Scientific reports, vol 8, iss 1
Sholler, Giselle L Saulnier; Ferguson, William; Bergendahl, Genevieve; Bond, Jeffrey P; Neville, Kathleen; Eslin, Don; et al.(2018). Maintenance DFMO Increases Survival in High Risk Neuroblastoma. SCIENTIFIC REPORTS, 8(1), 14445. doi: 10.1038/s41598-018-32659-w. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4z74d9zw

High risk neuroblastoma (HRNB) accounts for 15% of all pediatric cancer deaths. Despite aggressive therapy approximately half of patients will relapse, typically with only transient responses to second-line therapy. This study evaluated the ornithine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6eab36b93d1ffcb93c4fdf96909f7bd
http://link.springer.com/article/10.1038/s41598-018-32659-w