MDB-23. ELP1 GERMLINE DEFICIENCY SENSITIZES THE GRANULE NEURON LINEAGE TO SHH MEDULLOBLASTOMA AND EXPOSES NOVEL THERAPEUTIC VULNERABILITIES

Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB). ELP1 germline carriers develop SHH-MBs that exhibit coincident somatic PTCH1 mutations and universal loss-of-heterozygosity of the rema...

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Detalles Bibliográficos
Autores principales: Garcia-Lopez, Jesus, Ahmad, Shiekh Tanveer, Li, Yiran, Gudenas, Brian, Kojic, Marija, Manz, Friedrik, Jonchere, Barbara, Mayasundari, Anand, Pitre, Aaron, Hadley, Jennifer, Paul, Leena, Batts, Melissa, Pfister, Stefan, Waszak, Sebastian, Bianski, Brandon, Tinkle, Christopher, Orr, Brent, Rankovic, Zoran, Robinson, Giles, Wainwright, Brandon, Kutscher, Lena, Lin, Hong, Northcott, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Final Category: Medulloblastomas - MDB
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10260154/
http://dx.doi.org/10.1093/neuonc/noad073.255

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10260154/
http://dx.doi.org/10.1093/neuonc/noad073.255

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