Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jordann Smak"'
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:
Michael Lewis, Berta Terré, Philip A. Knobel, Tao Cheng, Hao Lu, Camille Stephan-Otto Attolini, Jordann Smak, Etienne Coyaud, Isabel Garcia-Cao, Shalu Sharma, Chithran Vineethakumari, Jessica Querol, Gabriel Gil-Gómez, Gabriele Piergiovanni, Vincenzo Costanzo, Sandra Peiró, Brian Raught, Haotian Zhao, Xavier Salvatella, Sudipto Roy, Moe R. Mahjoub, Travis H. Stracker
Publikováno v:
Cell Death and Disease, Vol 14, Iss 3, Pp 1-15 (2023)
Abstract Multiciliated cells (MCCs) project dozens to hundreds of motile cilia from their apical surface to promote the movement of fluids or gametes in the mammalian brain, airway or reproductive organs. Differentiation of MCCs requires the sequenti
Externí odkaz:
https://doaj.org/article/6a20ac16e16e4c6f9816cfefaef6e20f
Autor:
Michael Lewis, Berta Terre, Philip A. Knobel, Tao Cheng, Hao Lu, Camille Stephan-Otto Attolini, Jordann Smak, Etienne Coyaud, Isabel Garcia-Cao, Jessica Querol, Gabriel Gil-Gomez, Gabrielle Piergiovanni, Vincenzo Costanzo, Sandra Peiró, Brian Raught, Haotian Zhao, Xavier Salvatella, Sudipto Roy, Moe Mahjoub, Travis H. Stracker
Multiciliated cells (MCCs) project dozens to hundreds of motile cilia from their apical surface to promote the movement of fluids or gametes in the mammalian brain, airway or reproductive organs. Differentiation of MCCs requires the sequential action
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bf9b756b31fd5a9ca85728ed239e5aa
https://doi.org/10.1101/2022.12.02.518887
https://doi.org/10.1101/2022.12.02.518887