The Hox genes are an evolutionarily conserved family of genes, which encode a class of
important transcription factors that function in numerous developmental processes …

Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches
have recently been applied to investigate the causes of clefts. These include examining …

Expansions of amino acid repeats occur in> 20 inherited human disorders, and many occur
in intrinsically disordered regions (IDRs) of transcription factors (TFs). Such diseases are …

Introduction During vertebrate limb development, gene members of the HoxD cluster are
transcribed in two subsequent waves, following a collinear strategy. Early on, genes located …

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a
life-threatening disorder involving an impaired ventilatory response to hypercarbia and …

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

Although disorders of the skeleton are individually rare, they are of clinical relevance
because of their overall frequency. Many attempts have been made in the past to identify …

Expansions of polyglutamine repeats are known to cause a variety of human
neurodegenerative diseases. More recently, expansions of alanine tracts, particularly in …

Expansions of trinucleotide repeats encoding polyalanine tracts have been recognized as
the cause of several diseases, predominantly congenital malformation syndromes. To date …

The polyadenosine RNA binding protein polyadenylate‐binding nuclear protein 1 (PABPN
1) plays key roles in post‐transcriptional processing of RNA. Although PABPN 1 is …