3 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...
Common mechanistic pathways in rare congenital syndromes with primary microcephaly
Jorge, Xavier; Milagre, Ines; 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...
Generation and characterization of two isogenic induced pluripotent stem cell l...
Ferreira, Anita; Calado, Sofia; Jorge, Xavier; Lange, Job de; Carvalhal, SaraMutations 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...