Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maria Sanchiz-Calvo"'
Autor:
Sandra Segura-Bayona, Marina Villamor-Payà, Camille Stephan-Otto Attolini, Lars M. Koenig, Maria Sanchiz-Calvo, Simon J. Boulton, Travis H. Stracker
Publikováno v:
Cell Reports, Vol 32, Iss 5, Pp 107983- (2020)
Summary: The Tousled-like kinases 1 and 2 (TLK1/2) control histone deposition through the ASF1 histone chaperone and influence cell cycle progression and genome maintenance, yet the mechanisms underlying TLK-mediated genome stability remain uncertain
Externí odkaz:
https://doaj.org/article/fb3250859cdb404aac7e087f433bf693
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Autor:
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
Publikováno v:
iScience, Vol 27, Iss 6, Pp 109984- (2024)
Summary: The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder (NDD) ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), characterized
Externí odkaz:
https://doaj.org/article/9fee7cb1f61b4d7e99ce9dad37542610
Autor:
Marina Villamor-Payà, Sandra Segura-Bayona, Lars M. Koenig, Travis H. Stracker, Camille Stephan-Otto Attolini, Simon J. Boulton, Maria Sanchiz-Calvo
Publikováno v:
Cell Reports
Cell Reports, Vol 32, Iss 5, Pp 107983-(2020)
Cell Reports, Vol 32, Iss 5, Pp 107983-(2020)
Summary The Tousled-like kinases 1 and 2 (TLK1/2) control histone deposition through the ASF1 histone chaperone and influence cell cycle progression and genome maintenance, yet the mechanisms underlying TLK-mediated genome stability remain uncertain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48978fc62d2da3c4e066ec68d81b96bb
http://europepmc.org/articles/PMC7408502
http://europepmc.org/articles/PMC7408502
Autor:
Lisa, Pavinato, Marina, Villamor-Payà, Maria, Sanchiz-Calvo, Cristina, Andreoli, Marina, Gay, Marta, Vilaseca, Gianluca, Arauz-Garofalo, Andrea, Ciolfi, Alessandro, Bruselles, Tommaso, Pippucci, Valentina, Prota, Diana, Carli, Elisa, Giorgio, Francesca Clementina, Radio, Vincenzo, Antona, Mario, Giuffrè, Kara, Ranguin, Cindy, Colson, Silvia, De Rubeis, Paola, Dimartino, Joseph D, Buxbaum, Giovanni Battista, Ferrero, Marco, Tartaglia, Simone, Martinelli, Travis H, Stracker, Alfredo, Brusco
Publikováno v:
Journal of medical genetics. 59(2)
The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations inWe re-evaluate whole exome sequencing and array-CGH data fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50da9e26341705814c0d15d5c645e265
https://pubmed.ncbi.nlm.nih.gov/33323470
https://pubmed.ncbi.nlm.nih.gov/33323470
Autor:
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
IntroductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with ‘Mental Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::552829fbd820b85333c5a3c6f2f9dcf9
http://hdl.handle.net/2445/181005
http://hdl.handle.net/2445/181005
Autor:
J. Ross Chapman, Maria Sanchiz-Calvo, Consuelo Anzilotti, Mukta Deobagkar-Lele, Richard J. Cornall, Hind Ghezraoui, Kirstin Bilham, Catarina Oliveira, Elena Fueyo-Marcos, Sarah Bonham, Catherine M. Green, Jordan R. Becker, Roman Fischer, Sven Rottenberg, Daniela Moralli, Benedikt M. Kessler
53BP1 governs a specialized, context-specific branch of the classical non-homologous end joining DNA double-strand break repair pathway. Mice lacking 53bp1 (also known as Trp53bp1) are immunodeficient owing to a complete loss of immunoglobulin classs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee0f33f5d49319dfd4557bf133b51a3
https://doi.org/10.1038/s41586-018-0362-1
https://doi.org/10.1038/s41586-018-0362-1