Abstract The U12-dependent (minor) spliceosome excises a rare group of introns that are
characterized by a highly conserved 5′ splice site and branch point sequence. Several …

Pre-mRNA splicing is an essential step in gene expression and is catalyzed by two
machineries in eukaryotes: the major (U2 type) and minor (U12 type) spliceosomes. While …

Roifman Syndrome is a rare congenital disorder characterized by growth retardation,
cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize …

Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal
U4atac snRNA, cause the developmental disorder, MOPD I/TALS. To date, nine separate …

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal
cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The …

Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome
component U4atac snRNA, are responsible for three rare recessive developmental …

There are approximately 3000 human protein‐coding genes that have been linked with
(near) monogenic disorders. This knowledge reflects the past and present focus on protein …

Primary microcephaly is a brain growth disorder characterized by a severe reduction of brain
size and thinning of the cerebral cortex. Many primary microcephaly mutations occur in …

Pre-mRNA splicing is an essential step in eukaryotic gene expression. Mutations in cis-
acting sequence elements within pre-mRNA molecules or trans-acting factors involved in …

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal
dysplasia associated with microcephaly, developmental delay and intellectual disability, and …