Drosophila melanogaster is emerging as one of the most effective tools for analyzing the
function of human disease genes, including those responsible for developmental and …

The HOM‐C clustered prototype homeobox genes of Drosophila, and their counterparts, the
HOX genes in humans, are highly conserved at the genomic level. These master regulators …

HOX genes are evolutionarily highly conserved. The HOX proteins which they encode are
master regulators of embryonic development and continue to be expressed throughout …

HOX genes encode a family of transcription factors of fundamental importance for body
patterning during embryonic development. Humans, like most vertebrates, have 39 HOX …

The transcription factor p63 is essential for the formation of the epidermis and other
stratifying epithelia. This is clearly demonstrated by the severe abnormality of p63-deficient …

Abstract Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs
and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first …

Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM),
orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that …

Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to
severe. Severe (classic) CdLS is characterized by distinctive facial features, growth …

Molecular and genetic evidence accumulated during the past 20 years in the field of
developmental biology indicates that different animals possess many common genetic …

Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a
disruption of cohesin function. The cohesin ring complex is composed of four protein …