Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas

Autor: Ana S. Guerreiro Stucklin, Scott Ryall, Kohei Fukuoka, Michal Zapotocky, Alvaro Lassaletta, Christopher Li, Taylor Bridge, Byungjin Kim, Anthony Arnoldo, Paul E. Kowalski, Yvonne Zhong, Monique Johnson, Claire Li, Arun K. Ramani, Robert Siddaway, Liana Figueiredo Nobre, Pasqualino de Antonellis, Christopher Dunham, Sylvia Cheng, Daniel R. Boué, Jonathan L. Finlay, Scott L. Coven, Inmaculada de Prada, Marta Perez-Somarriba, Claudia C. Faria, Michael A. Grotzer, Elisabeth Rushing, David Sumerauer, Josef Zamecnik, Lenka Krskova, Miguel Garcia Ariza, Ofelia Cruz, Andres Morales La Madrid, Palma Solano, Keita Terashima, Yoshiko Nakano, Koichi Ichimura, Motoo Nagane, Hiroaki Sakamoto, Maria Joao Gil-da-Costa, Roberto Silva, Donna L. Johnston, Jean Michaud, Bev Wilson, Frank K. H. van Landeghem, Angelica Oviedo, P. Daniel McNeely, Bruce Crooks, Iris Fried, Nataliya Zhukova, Jordan R. Hansford, Amulya Nageswararao, Livia Garzia, Mary Shago, Michael Brudno, Meredith S. Irwin, Ute Bartels, Vijay Ramaswamy, Eric Bouffet, Michael D. Taylor, Uri Tabori, Cynthia Hawkins

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

Infant gliomas behave differently to their childhood or adult counterparts. Here, the authors perform a large-scale genetic analysis of these tumours, revealing genetic alterations which may offer therapeutic opportunities.

Externí odkaz: https://doaj.org/article/1dd77b35b12f4fbfa3be4dbd3feb1c2b

ATRT-SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance

Autor: Aniello Federico, Christian Thomas, Katarzyna Miskiewicz, Niklas Woltering, Francesca Zin, Karolina Nemes, Brigitte Bison, Pascal D. Johann, Debra Hawes, Susanne Bens, Uwe Kordes, Steffen Albrecht, Hildegard Dohmen, Peter Hauser, Kathy Keyvani, Frank K. H. van Landeghem, Eva Løbner Lund, David Scheie, Christian Mawrin, Camelia-Maria Monoranu, Benedicte Parm Ulhøi, Torsten Pietsch, Harald Reinhard, Markus J. Riemenschneider, Astrid Sehested, David Sumerauer, Reiner Siebert, Werner Paulus, Michael C. Frühwald, Marcel Kool, Martin Hasselblatt

Publikováno v: Federico, A, Thomas, C, Miskiewicz, K, Woltering, N, Zin, F, Nemes, K, Bison, B, Johann, P D, Hawes, D, Bens, S, Kordes, U, Albrecht, S, Dohmen, H, Hauser, P, Keyvani, K, van Landeghem, F K H, Lund, E L, Scheie, D, Mawrin, C, Monoranu, C M, Parm Ulhøi, B, Pietsch, T, Reinhard, H, Riemenschneider, M J, Sehested, A, Sumerauer, D, Siebert, R, Paulus, W, Frühwald, M C, Kool, M & Hasselblatt, M 2022, ' ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance ', Acta Neuropathologica, vol. 143, no. 6, pp. 697-711 . https://doi.org/10.1007/s00401-022-02424-5
Federico, A, Thomas, C, Miskiewicz, K, Woltering, N, Zin, F, Nemes, K, Bison, B, Johann, P D, Hawes, D, Bens, S, Kordes, U, Albrecht, S, Dohmen, H, Hauser, P, Keyvani, K, van Landeghem, F K H, Lund, E L, Scheie, D, Mawrin, C, Monoranu, C-M, Parm Ulhøi, B, Pietsch, T, Reinhard, H, Riemenschneider, M J, Sehested, A, Sumerauer, D, Siebert, R, Paulus, W, Frühwald, M C, Kool, M & Hasselblatt, M 2022, ' ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance ', Acta Neuropathologica, vol. 143, no. 6, pp. 697-711 . https://doi.org/10.1007/s00401-022-02424-5

Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system tumor characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT–TYR, ATRT–MYC and ATRT–SHH. ATRT–SHH represents

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b881aecb548b2ef7be6893d42d4a6b
https://pubmed.ncbi.nlm.nih.gov/35501487

Intratentorial osteochondrolipoma in a 9-year-old boy

Autor: Ernst-Johannes Haberl, Sebastian A. Ahmadi, Frank K. H. van Landeghem, Ulrich-Wilhelm Thomale, Cristiane Blechschmidt, Kerstin Lieber

Publikováno v: Journal of Neurosurgery: Pediatrics. 3:386-391

Intracranial osteolipomas and chondromas are rare benign tumors. Forty-five chondromas, mostly supratentorial, have been reported in the literature since 1981, with origins most commonly in the sellar regions. Twenty-one osteolipomas have been descri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5282fb8f298f9e184b56a6f1944546b8
https://doi.org/10.3171/2009.1.peds08237

Cellular localization of pituitary adenylate cyclase-activating peptide (PACAP) following traumatic brain injury in humans

Autor: Andreas von Deimling, Thorsten Weiss, M. Oehmichen, Frank K. H. van Landeghem

Publikováno v: Acta Neuropathologica. 113:683-693

The pituitary adenylate cyclase-activating peptide (PACAP) is involved in many processes of the developing and mature central nervous system, such as proliferation, differentiation, apoptosis, neurotransmission, inflammation and neuroprotection. Alte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf8a6e5a2d8947305a982422efb6f11
https://doi.org/10.1007/s00401-007-0208-7

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

Autor: Christoph Bührer, Manfred W. Kilimann, Barbara Burwinkel, D. Grahame Hardie, Callum Wilson, John W. Scott, Gerald F. Cox, Frank K. H. van Landeghem

Publikováno v: The American Journal of Human Genetics. 76(6):1034-1049

Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the underlying genes and mutations have not been identified. Analyzing four sporadic, unrelated patients, we found no mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f164ad4ffe5c93b20f951fabfdb06ef