P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies

Autor: Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)

Externí odkaz: https://doaj.org/article/63607ac1340c4282b5f0385f8b733957

Anti-Human CD9 Fab Fragment Antibody Blocks the Extracellular Vesicle-Mediated Increase in Malignancy of Colon Cancer Cells

Autor: Mark F. Santos, Germana Rappa, Simona Fontana, Jana Karbanová, Feryal Aalam, Derek Tai, Zhiyin Li, Marzia Pucci, Riccardo Alessandro, Chikao Morimoto, Denis Corbeil, Aurelio Lorico

Publikováno v: Cells, Vol 11, Iss 16, p 2474 (2022)

Intercellular communication between cancer cells themselves or with healthy cells in the tumor microenvironment and/or pre-metastatic sites plays an important role in cancer progression and metastasis. In addition to ligand–receptor signaling compl

Externí odkaz: https://doaj.org/article/21916ac64f8d43c992b427b18330fd8c

STATISTICAL AND FUNCTIONAL CONVERGENCE OF COMMON AND RARE VARIANT RISK FOR AUTISM SPECTRUM DISORDERS AT CHROMOSOME 16P

Autor: Daniel Weiner, Emi Ling, Serkan Erdin, Derek Tai, Rachita Yadav, Jakob Grove, Jack Fu, Ajay Nadig, Jonathan Sebat, Luke O'Connor, David Hougaard, Anders Børglum, Michael Talkowski, Steve McCarroll, Elise Robinson

Publikováno v: European Neuropsychopharmacology. 63:e20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::067d4065b690c5fcc22d24ef3ec761fd
https://doi.org/10.1016/j.euroneuro.2022.07.047

Distinct hypothalamic control of same- and opposite-sex mounting behaviour in mice

Autor: Iman A. Wahle, Ann Kennedy, Tomomi Karigo, David J. Anderson, Bin Yang, Derek Tai, Mengyu Liu

Publikováno v: Nature

Animal behaviours that are superficially similar can express different intents in different contexts, but how this flexibility is achieved at the level of neural circuits is not understood. For example, males of many species can exhibit mounting beha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b15e2a11e1cac98b114ff1135ca1d890
https://europepmc.org/articles/PMC7899581/

Factors Influencing Survival in Children With Recurrent Neuroblastoma

Autor: David Malkin, Loretta Lau, Derek Tai, Sheila Weitzman, Sylvain Baruchel, Ronald Grant

Publikováno v: Journal of Pediatric Hematology/Oncology. 26:227-232

Despite advances in multimodal therapy for neuroblastoma, survival from advanced disease remains poor. Children are now offered a wide variety of salvage regimens following relapse. A retrospective review was performed on 31 patients with recurrent n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee4dfe438497ceb7a1b016eb8d8f4406
https://doi.org/10.1097/00043426-200404000-00003