M
Mariarita Santi
Researcher at Children's Hospital of Philadelphia
Publications - 160
Citations - 7767
Mariarita Santi is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Medicine & Glioma. The author has an hindex of 41, co-authored 138 publications receiving 6445 citations. Previous affiliations of Mariarita Santi include University of Washington & Georgetown University.
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Journal ArticleDOI
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Dominik Sturm,Dominik Sturm,Brent A. Orr,Umut H. Toprak,Volker Hovestadt,David T.W. Jones,David Capper,David Capper,Martin Sill,Ivo Buchhalter,Paul A. Northcott,Irina Leis,Marina Ryzhova,Christian Koelsche,Christian Koelsche,Elke Pfaff,Elke Pfaff,Sariah Allen,Gnanaprakash Balasubramanian,Barbara C. Worst,Barbara C. Worst,Kristian W. Pajtler,Sebastian Brabetz,Pascal Johann,Pascal Johann,Felix Sahm,Felix Sahm,Jüri Reimand,Jüri Reimand,Alan Mackay,Diana Carvalho,Marc Remke,Joanna J. Phillips,Arie Perry,Cynthia Cowdrey,Rachid Drissi,Maryam Fouladi,Felice Giangaspero,Maria Łastowska,Wiesława Grajkowska,Wolfram Scheurlen,Torsten Pietsch,Christian Hagel,Johannes Gojo,Daniela Lötsch,Walter Berger,Irene Slavc,Christine Haberler,Anne Jouvet,Stefan Holm,Silvia Hofer,Marco Prinz,Catherine Keohane,Iris Fried,Christian Mawrin,David Scheie,Bret C. Mobley,Matthew Schniederjan,Mariarita Santi,Anna Maria Buccoliero,Sonika Dahiya,Christof M. Kramm,André O. von Bueren,Katja von Hoff,Stefan Rutkowski,Christel Herold-Mende,Michael C. Frühwald,Till Milde,Till Milde,Martin Hasselblatt,Pieter Wesseling,Pieter Wesseling,Jochen Rößler,Ulrich Schüller,Martin Ebinger,Jens Schittenhelm,Stephan Frank,Rainer Grobholz,Istvan Vajtai,Volkmar Hans,Reinhard Schneppenheim,Karel Zitterbart,V. Peter Collins,Eleonora Aronica,Pascale Varlet,Stéphanie Puget,Christelle Dufour,Jacques Grill,Dominique Figarella-Branger,Marietta Wolter,Martin U. Schuhmann,Tarek Shalaby,Michael A. Grotzer,Timothy E. Van Meter,Camelia M. Monoranu,Jörg Felsberg,Guido Reifenberger,Matija Snuderl,Lynn Ann Forrester,Jan Koster,Rogier Versteeg,Richard Volckmann,Peter van Sluis,Stephan Wolf,Tom Mikkelsen,Amar Gajjar,Kenneth Aldape,Andrew S. Moore,Michael D. Taylor,Chris Jones,Nada Jabado,Matthias A. Karajannis,Roland Eils,Matthias Schlesner,Peter Lichter,Andreas von Deimling,Andreas von Deimling,Stefan M. Pfister,Stefan M. Pfister,David W. Ellison,Andrey Korshunov,Andrey Korshunov,Marcel Kool +122 more
TL;DR: It is demonstrated that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors.
Journal ArticleDOI
Neurosteroids act on recombinant human GABAA receptors
Giulia Puia,Mariarita Santi,Stefano Vicini,Dolan B. Pritchett,Robert H. Purdy,Steven M. Paul,Peter H. Seeburg,Erminio Costa +7 more
TL;DR: An examination of single-channel currents recorded from outside-out patches excised from these transfected cells suggests that despite the common minimal structural requirements for expressing steroid and barbiturate actions, the mechanism of GABAA receptor modulation by these pregnane steroids may differ from that of barbiturates.
Journal ArticleDOI
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
Priscilla K. Brastianos,Amaro Taylor-Weiner,Peter E. Manley,Robert T. Jones,Dora Dias-Santagata,Aaron R. Thorner,Michael S. Lawrence,Fausto J. Rodriguez,Lindsay A. Bernardo,Laura Schubert,Ashwini Sunkavalli,Nick Shillingford,Monica L. Calicchio,Hart G.W. Lidov,Hala Taha,Maria Martinez-Lage,Mariarita Santi,Phillip B. Storm,John Y K Lee,James N. Palmer,Nithin D. Adappa,R. Michael Scott,Ian F. Dunn,Edward R. Laws,Chip Stewart,Keith L. Ligon,Mai P. Hoang,Paul Van Hummelen,William C. Hahn,David N. Louis,Adam C. Resnick,Mark W. Kieran,Gad Getz,Sandro Santagata +33 more
TL;DR: Using whole-exome sequencing, mutations in CTNNB1 (β-catenin) and BRAF were identified in nearly all adamantinomatous and papillary craniopharyngiomas examined and clonal in each tumor subtype, and these findings have important implications for the diagnosis and treatment of these neoplasms.
Journal ArticleDOI
Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas.
Margaret J. Dougherty,Mariarita Santi,Marcia S. Brose,Changqing Ma,Adam C. Resnick,Angela J. Sievert,Phillip B. Storm,Jaclyn A. Biegel +7 more
TL;DR: DNA from 27 grade I and grade II pediatric gliomas, including ganglioglioma, desmoplastic infantile gangliogsliomas, dysembryoplastic neuroepithelial tumor, and pleomorphic xanthoastrocytoma was analyzed using the Illumina 610K Beadchip SNP-based oligonucleotide array, finding consistent abnormalities.
Journal ArticleDOI
Study of an octadecaneuropeptide derived from diazepam binding inhibitor (DBI): biological activity and presence in rat brain
TL;DR: In primary cultures of cerebellar granule cells of rat, DBI, ODN, octapeptide, heptapeptid, and hexapeptides preferentially displace [3H]BCCM over [3h]flunitrazepam; moreover, these data suggest that ODN includes a specific ligand for the gamma-aminobutyric acid receptor regulatory site occupied by beta-carbolines.