Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Autor: Bruce D. Gelb, Shalini C. Reshmi, Andrea Ciolfi, Marialetizia Motta, Alessandro Bruselles, Simone Martinelli, Dorothy K. Grange, Larry Walsh, Elisabetta Flex, Martina Di Rocco, Carlos E. Prada, Koen L.I. van Gassen, Luca Pannone, Mariet W. Elting, Simone Pizzi, Eva H. Brilstra, Danielle Mouhlas, Wendy K. Chung, Michelle M. Morrow, Marco Seri, Christina Lißewski, Luigi Memo, Mythily Ganapathi, Lorenzo Stella, Francesca Piceci-Sparascio, Julia Brinkmann, Francesca Clementina Radio, Dennis Bartholomew, Bruno Dallapiccola, Katelyn Payne, Emanuele Bellacchio, Federica Tamburrino, Alessandro De Luca, Sara Álvarez, Marco Tartaglia, Mónica Martínez-García, Giuseppe Zampino, Ingrid M. Wentzensen, Laura Mazzanti, Giovanna Carpentieri, Ronald R. Waclaw, Alberto Fernández-Jaén, Martin Zenker, Francesca Pantaleoni, Serena Cecchetti, Cesare Rossi, Ashita Dave-Wala, Quinten Waisfisz, Stefania Boni, Gianfranco Bocchinfuso

Publikováno v: Am J Hum Genet
Motta, M, Pannone, L, Pantaleoni, F, Bocchinfuso, G, Radio, F C, Cecchetti, S, Ciolfi, A, Di Rocco, M, Elting, M W, Brilstra, E H, Boni, S, Mazzanti, L, Tamburrino, F, Walsh, L, Payne, K, Fernández-Jaén, A, Ganapathi, M, Chung, W K, Grange, D K, Dave-Wala, A, Reshmi, S C, Bartholomew, D W, Mouhlas, D, Carpentieri, G, Bruselles, A, Pizzi, S, Bellacchio, E, Piceci-Sparascio, F, Lißewski, C, Brinkmann, J, Waclaw, R R, Waisfisz, Q, van Gassen, K, Wentzensen, I M, Morrow, M M, Álvarez, S, Martínez-García, M, De Luca, A, Memo, L, Zampino, G, Rossi, C, Seri, M, Gelb, B D, Zenker, M, Dallapiccola, B, Stella, L, Prada, C E, Martinelli, S, Flex, E & Tartaglia, M 2020, ' Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ', American journal of human genetics, vol. 107, no. 3, pp. 499-513 . https://doi.org/10.1016/j.ajhg.2020.06.018
American journal of human genetics, 107(3), 499-513. Cell Press

Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. Aberrant signaling through this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7330d27e2c464d18e0c8f7741f10d5c
https://hdl.handle.net/11268/10650

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Autor: Vibhuti Agarwal, Peter White, Richard K. Wilson, Patrick J. Brennan, Elaine R. Mardis, Catherine E. Cottrell, Vincent Magrini, Elizabeth Varga, Daniel C. Koboldt, Benjamin J. Kelly, Christopher R. Pierson, Kathleen M. Schieffer, Jonathan L. Finlay, Mohamed S. AbdelBaki, Ashita Dave-Wala, Katherine E. Miller

Publikováno v: Eur J Med Genet

Klippel-Feil syndrome (KFS) is an exceerlingly rare constitutional disorder in which a paucity of knowledge exists about the disease and its associated morbidity and mortality. We present a 4-year-old male with KFS, who notably was also diagnosed wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083461352cc6f625c7463601236f6044
https://pubmed.ncbi.nlm.nih.gov/31195167