Recently, mutations in ZFHX1B, the gene that encodes Smad-interacting protein-1 (SIP1),
were found to be implicated in the etiology of a dominant form of Hirschsprung disease …

Receptors for bone morphogenetic proteins (BMPs), members of the transforming growth
factor-β (TGFβ) superfamily, are persistently expressed during cardiac development, yet …

Objective To identify novel genes involved in osteoarthritis (OA), by means of a genome‐
wide association study. Methods We tested 500,510 single‐nucleotide polymorphisms …

Objectives Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for
substantial morbidity and disability, particularly in older people. It is characterised by …

Slowed nerve-conduction velocities (NCVs) are a biological endophenotype in the majority
of the hereditary motor and sensory neuropathies (HMSN). Here, we identified a family with …

Smad-interacting protein-1 (Sip1)[Zinc finger homeobox (Zfhx1b)] is a transcription factor
implicated in the genesis of Mowat–Wilson syndrome in humans. Sip1 expression in the …

Mutations in ZFHX1B cause Mowat–Wilson syndrome (MWS) but the precise mechanisms
underlying the aberrant functions of mutant ZFHX1B proteins (also named Smad-interacting …

δEF1 and SIP1 (or Zfhx1a and Zfhx1b, respectively) are the only known members of the
vertebrate Zfh1 family of homeodomain/zinc finger-containing proteins. Similar to other …

Mowat–Wilson syndrome is a recently delineated autosomal dominant developmental
anomaly, whereby heterozygous mutations in the ZFHX1B gene cause mental retardation …

Background: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental
retardation syndrome. The aetiology of KS remains unknown. Methods: Four carefully …