Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Kimberly A. Aldinger"'
Autor:
Donna M. Werling, Sirisha Pochareddy, Jinmyung Choi, Joon-Yong An, Brooke Sheppard, Minshi Peng, Zhen Li, Claudia Dastmalchi, Gabriel Santpere, André M.M. Sousa, Andrew T.N. Tebbenkamp, Navjot Kaur, Forrest O. Gulden, Michael S. Breen, Lindsay Liang, Michael C. Gilson, Xuefang Zhao, Shan Dong, Lambertus Klei, A. Ercument Cicek, Joseph D. Buxbaum, Homa Adle-Biassette, Jean-Leon Thomas, Kimberly A. Aldinger, Diana R. O’Day, Ian A. Glass, Noah A. Zaitlen, Michael E. Talkowski, Kathryn Roeder, Matthew W. State, Bernie Devlin, Stephan J. Sanders, Nenad Sestan
Publikováno v:
Cell Reports, Vol 31, Iss 1, Pp - (2020)
Summary: Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects through this mechani
Externí odkaz:
https://doaj.org/article/659cb161cbb744e39a67fefdafb36d56
Autor:
Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman, Alexandria H. Sjoboen, Anders W. Erickson, Winnie Ong, Victor Gordon, Ludivine Coudière-Morrison, Audrey L. Mercier, Mohammad Shokouhian, Raúl A. Suárez, Michelle Ly, Stephanie Borlase, David S. Scott, Maria C. Vladoiu, Hamza Farooq, Olga Sirbu, Takuma Nakashima, Shohei Nambu, Yusuke Funakoshi, Alec Bahcheli, J. Javier Diaz-Mejia, Joseph Golser, Kathleen Bach, Tram Phuong-Bao, Patryk Skowron, Evan Y. Wang, Sachin A. Kumar, Polina Balin, Abhirami Visvanathan, John J. Y. Lee, Ramy Ayoub, Xin Chen, Xiaodi Chen, Karen L. Mungall, Betty Luu, Pierre Bérubé, Yu C. Wang, Stefan M. Pfister, Seung-Ki Kim, Olivier Delattre, Franck Bourdeaut, François Doz, Julien Masliah-Planchon, Wieslawa A. Grajkowska, James Loukides, Peter Dirks, Michelle Fèvre-Montange, Anne Jouvet, Pim J. French, Johan M. Kros, Karel Zitterbart, Swneke D. Bailey, Charles G. Eberhart, Amulya A. N. Rao, Caterina Giannini, James M. Olson, Miklós Garami, Peter Hauser, Joanna J. Phillips, Young S. Ra, Carmen de Torres, Jaume Mora, Kay K. W. Li, Ho-Keung Ng, Wai S. Poon, Ian F. Pollack, Enrique López-Aguilar, G. Yancey Gillespie, Timothy E. Van Meter, Tomoko Shofuda, Rajeev Vibhakar, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Toshihiro Kumabe, Shin Jung, Boleslaw Lach, Achille Iolascon, Veronica Ferrucci, Pasqualino de Antonellis, Massimo Zollo, Giuseppe Cinalli, Shenandoah Robinson, Duncan S. Stearns, Erwin G. Van Meir, Paola Porrati, Gaetano Finocchiaro, Maura Massimino, Carlos G. Carlotti, Claudia C. Faria, Martine F. Roussel, Frederick Boop, Jennifer A. Chan, Kimberly A. Aldinger, Ferechte Razavi, Evelina Silvestri, Roger E. McLendon, Eric M. Thompson, Marc Ansari, Maria L. Garre, Fernando Chico, Pilar Eguía, Mario Pérezpeña, A. Sorana Morrissy, Florence M. G. Cavalli, Xiaochong Wu, Craig Daniels, Jeremy N. Rich, Steven J. M. Jones, Richard A. Moore, Marco A. Marra, Xi Huang, Jüri Reimand, Poul H. Sorensen, Robert J. Wechsler-Reya, William A. Weiss, Trevor J. Pugh, Livia Garzia, Claudia L. Kleinman, Lincoln D. Stein, Nada Jabado, David Malkin, Olivier Ayrault, Jeffrey A. Golden, David W. Ellison, Brad Doble, Vijay Ramaswamy, Tamra E. Werbowetski-Ogilvie, Hiromichi Suzuki, Kathleen J. Millen, Michael D. Taylor
Publikováno v:
Nature, 609(7929), 1021-1028. Nature Publishing Group
Nature
Nature
Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain 1–4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the
Publikováno v:
Annual Review of Neuroscience. 45:515-531
Developmental abnormalities of the cerebellum are among the most recognized structural brain malformations in human prenatal imaging. Yet reliable information regarding their cause in humans is sparse, and few outcome studies are available to inform
Autor:
Achira Roy, Rory M Murphy, Mei Deng, James W MacDonald, Theo K Bammler, Kimberly A Aldinger, Ian A Glass, Kathleen J Millen
Publikováno v:
eLife, Vol 8 (2019)
Mechanisms driving the initiation of brain folding are incompletely understood. We have previously characterized mouse models recapitulating human PIK3CA-related brain overgrowth, epilepsy, dysplastic gyrification and hydrocephalus (Roy et al., 2015)
Externí odkaz:
https://doaj.org/article/733e86e1d51148799cd6159aaf11757b
Autor:
S. Subramanian, Ajay Taranath, Sniya Sudhakar, Karuna Shekdar, Pradeep Krishnan, Richard J. Leventer, César Augusto Pinheiro Ferreira Alves, Kimberly A. Aldinger, Manohar Shroff, Kshitij Mankad, Filippo Arrigoni, Asthik Biswas, William B. Dobyns
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients
Publikováno v:
Journal of psychiatry and brain science. 7
Autism spectrum disorders are common neurodevelopmental disorders that are defined by core behavioral symptoms but have diverse genetic and environmental risk factors. Despite its etiological heterogeneity, several unifying theories of autism have be
Autor:
Andrew E. Timms, Danilo Dubocanin, Cira Di Gioia, Rosa Russo, Derek Dang, Kathleen J. Millen, Ozgur Oztekin, Lucia Manganaro, Alexandria H Sjoboen, Brian D Davis, Kimberly A. Aldinger, Fabien Guimiot, Ian A. Glass, Jake Millman, Evelina Silvestri, Homa Adle-Biassette, Mei Deng, Tarika Sivakumar, Parthiv Haldipur, Ferechté Razavi, Kshitij Mankad, Nathalie Roux, Joseph R. Siebert, Silvia Bernardo, Giulia Petrilli, Debora Kidron, Jasmine T. Plummer
Publikováno v:
Acta Neuropathol
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them,
Autor:
Kyle S. Smith, Laure Bihannic, Brian L. Gudenas, Parthiv Haldipur, Ran Tao, Qingsong Gao, Yiran Li, Kimberly A. Aldinger, Igor Y. Iskusnykh, Victor V. Chizhikov, Matthew Scoggins, Silu Zhang, Angela Edwards, Mei Deng, Ian A. Glass, Lynne M. Overman, Jake Millman, Alexandria H. Sjoboen, Jennifer Hadley, Joseph Golser, Kshitij Mankad, Heather Sheppard, Arzu Onar-Thomas, Amar Gajjar, Giles W. Robinson, Volker Hovestadt, Brent A. Orr, Zoltán Patay, Kathleen J. Millen, Paul A. Northcott
Publikováno v:
Nature
Medulloblastoma, a malignant childhood cerebellar tumor, molecularly segregates into biologically distinct subgroups warranting personalized therapy(1). Murine modeling and cross-species genomics have provided mounting evidence of discrete, subgroup-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca57d49eeb6b7fe690f057ec08d0759e
https://europepmc.org/articles/PMC9748853/
https://europepmc.org/articles/PMC9748853/
Autor:
William B. Dobyns, Georg Seelig, Lynne M. Overman, Forrest O. Gulden, Ian A. Glass, Andrew E. Timms, Ian G. Phelps, Matthew Hirano, Paula Alexandre, Alexander B. Rosenberg, Kathleen J. Millen, Gabriel Santpere, Dan Doherty, Steven Lisgo, Charles M. Roco, Mei Deng, Parthiv Haldipur, Zachary Thomson, Kimberly A. Aldinger, Belen Lorente-Galdos, Diana R. O’Day, Nenad Sestan
Publikováno v:
Nature neuroscience
The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint required to integrate environmental cues with developing motor, cognitive and emotional skills into adulthood. Although mature cerebellar neuroanatomy is well st