4 documents found, page 1 of 1
Common mechanistic pathways in rare congenital syndromes with primary microcephaly
Jorge, Xavier; Milagre, Inês; Ferreira, Anita; Calado, Sofia; Oliveira, Raquel; Carvalhal, SaraPrimary microcephaly is an often-seen phenotype in several rare congenital syndromes. It is characterised by a smaller brain size at birth compared to the norm. The causes of this malformation are not fully understood, but genetic testing suggests a connection with defective genes involved in mitotic regulation and proteins related to DNA repair and replication pathways. Cohesinopathies represent a group of rar...
Compromised mitotic fidelity in human pluripotent stem cells
Milagre, Inês; Pereira, Carolina; Oliveira, Raquel A.Human pluripotent stem cells (PSCs), which include both embryonic and induced pluripotent stem cells, are widely used in fundamental and applied biomedical research. They have been instrumental for better understanding development and cell differentiation processes, disease origin and progression and can aid in the discovery of new drugs. PSCs also hold great potential in regenerative medicine to treat or dimin...
Generation and characterization of induced pluripotent stem cell line (IBBISTi0...
Maranga, Carina; Pereira, Carolina; Raposo, Ana Cláudia; Vieira, Adriana A.; Duarte, Sofia; Bekman, Evguenia; Milagre, Inês; da Rocha, Simão T.© 2022 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).; Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and character...
MERVL/Zscan4 network activation results in transient genome-wide DNA demethylat...
Eckersley-Maslin, Mélanie A.; Svensson, Valentine; Krueger, Christel; Stubbs, Thomas M.; Giehr, Pascal; Krueger, Felix; Miragaia, Ricardo JúdiceSupplemental Information includes Supplemental Experimental Procedures, six figures, and four tables and can be found with this article online at http:// dx.doi.org/10.1016/j.celrep.2016.08.087.; Mouse embryonic stem cells are dynamic and heterogeneous. For example, rare cells cycle through a state characterized by decondensed chromatin and expression of transcripts, including the Zscan4 cluster and MERVL endog...