Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database

Autor: Sreedevi Boggarapu, Steven L. Roberds, JoAnne Nakagawa, Eric Beresford

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Background Facial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic disorder impacting the mechanistic target of rapamycin (mTOR). Facial angiofibroma can blee

Externí odkaz: https://doaj.org/article/f6b64bc6197140c8b3d01c834f6d1399

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Autor: Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling, Petrus J. de Vries, Michael D. Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna C. Jansen, Sergiusz Jóźwiak, J. Chris Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David F. Rodriguez-Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth Anne Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M.P. Annear, Ute Bartels, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna Byars, Harry Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosmary Ekong, Kevin C. Ess, David N. Franz, Michael Frost, Zoë D.B. Fuchs, Elizabeth Gosnell, Lisa Guay-Woodford, Luciana Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John Hulbert, Anna Jansen, Simon R. Johnson, Bryan King, J. Christopher Kingswood, Mary Kay Koenig, Bruce Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark D. Nellist, Finbar O'Callaghan, Uday Patel, E. Steve Roach, David Rodriguez-Buritica, Robb Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Sahin, Julian Sampson, Joshua A. Samuels, Matthias Sauter, Catherine A. Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce M.C. Teng, Elizabeth A. Thiele, Andrew Trout, Agnies van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya-Kaneda, Patricia Witman, Tim Wright, Joyce Y. Wu, Lisa Young

Publikováno v: Pediatric Neurology, 123, 50-66. Elsevier Inc.
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011

Background\ud Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8452fd0a03ea849d8963162c28fd10b8
https://pubmed.ncbi.nlm.nih.gov/34399110

Novel brain permeant mTORC1/2 inhibitors are as efficacious as rapamycin or everolimus in mouse models of acquired partial epilepsy and tuberous sclerosis complex

Autor: Dean J. Aguiar, Wiebke Theilmann, Birthe Gericke, Syed Muhammad Muneeb Anjum, Steven C. Leiser, Dekun Song, Timon Harries, Matthias P. Wymann, Daniela Brunner, Petra Hillmann, Alina Schidlitzki, Steven L. Roberds, Doriano Fabbro, Saskia Borsdorf, Wolfgang Löscher

Publikováno v: Neuropharmacology. 180

Mechanistic target of rapamycin (mTOR) regulates cell proliferation, growth and survival, and is activated in cancer and neurological disorders, including epilepsy. The rapamycin derivative ("rapalog") everolimus, which allosterically inhibits the mT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f01263eaf3cea6c090d192c62bd9d53
https://pubmed.ncbi.nlm.nih.gov/32890589

Rapid, computer vision-enabled murine screening system identifies neuropharmacological potential of two new mechanisms

Autor: Steven L Roberds, Igor eFilippov, Vadim eAlexandrov, Taleen eHanania, Dani eBrunner

Publikováno v: Frontiers in Neuroscience, Vol 5 (2011)

The lack of predictive in vitro models for behavioral phenotypes impedes rapid advancement in neuropharmacology and psychopharmacology. In vivo behavioral assays are more predictive of activity in human disorders, but such assays are often highly res

Externí odkaz: https://doaj.org/article/138db44899a34f92a0bbf06d4a6ddcba

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

Autor: E. M. Bebin, Steven L. Roberds, Benoit Scherrer, Joyce Y. Wu, Gary Cutter, M. Sahin, Stephanie Bruns, Jurriaan M. Peters, Laura S. Farach, Donna S. Murray, Mustafa Sahin, Kira A. Dies, D. Krueger, Deborah A. Pearson, Bridget Kent, Ellen Hanson, Monisha Goyal, Simon K. Warfield, Sarah O'Kelley, H. Northrup, Kit Sing Au, Hope Northrup, Nicole M. Bing, Darcy A. Krueger, John P. Woodhouse, Rajna Filip-Dhima, D. Pearson, Marian E. Williams, Martina Bebin, Philip J. Lupo, Jeremy M. Schraw

Publikováno v: Pediatric neurology. 96

Background Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. TSC2 pathogenic variants appear to increase the risk, compared with TSC1. However, the effect of TSC2 path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce618846612e5e8aed4811aed34e96fb
https://pubmed.ncbi.nlm.nih.gov/31005478