7 documents found, page 1 of 1

Common mechanistic pathways in rare congenital syndromes with primary microcephaly

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

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...

Molecular mechanisms of cilia related diseases [editorial]

Eukaryotic cilia are fascinating evolutionarily conserved microtubule-based organelles that protrude from the cell surface. In vertebrates, multiple types of motile and primary (immotile) cilia fulfill motility and signaling functions, critical for embryonic development and homeostasis of adult tissues. Importantly, perturbed cilia assembly and functions are associated with a growing number of diseases. This Re...

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

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...

Editorial: molecular mechanisms of cilia related diseases

Eukaryotic cilia are fascinating evolutionarily conserved microtubule-based organelles that protrude from the cell surface. In vertebrates, multiple types of motile and primary (immotile) cilia fulfill motility and signaling functions, critical for embryonic development and homeostasis of adult tissues. Importantly, perturbed cilia assembly and functions are associated with a growing number of diseases. This Re...

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable ...

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-specific features. The identified mutations cause variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects. Both patients...

(Des)cobrir a ferida maligna