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Common mechanistic pathways in rare congenital syndromes with primary microcephaly

Jorge, Xavier; Milagre, Inês; Ferreira, Anita; Calado, Sofia; Oliveira, Raquel; Carvalhal, Sara

Primary 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...


Common mechanistic pathways in rare congenital syndromes with primary microcephaly

Jorge, Xavier; Milagre, Ines; Ferreira, Anita; Calado, Sofia; Oliveira, Raquel; Carvalhal, Sara

Primary 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...


Generation and characterization of two isogenic induced pluripotent stem cell l...

Ferreira, Anita; Calado, Sofia; Jorge, Xavier; Lange, Job de; Carvalhal, Sara

Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly. The patient carried two variants in the BUBfibroblast gene (OMIM # 602452), one (c.[2197dupG]; p.[D732fs*11]) paterna...


Human stem cells for cardiac disease modeling and preclinical and clinical appl...

Correia, Cátia; Ferreira, Anita; Fernandes, Mónica T.; Silva, Bárbara M.; Esteves, Filipa; Leitao, Helena; Bragança, José; Calado, Sofia

Cardiovascular diseases (CVDs) are pointed out by the World Health Organization (WHO) as the leading cause of death, contributing to a significant and growing global health and economic burden. Despite advancements in clinical approaches, there is a critical need for innovative cardiovascular treatments to improve patient outcomes. Therapies based on adult stem cells (ASCs) and embryonic stem cells (ESCs) have ...


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