Single-nucleotide mutations in human SIX1 result in amino acid substitutions in either the
protein-protein interaction domain or the homeodomain, and cause ∼4% of branchio-otic (BOS…

Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR)
syndrome, but the clinical literature has not been able to correlate different variants with …

Branchio-oto-renal syndrome (BOR) is a disorder characterized by hearing loss, and craniofacial
and/or renal defects. Variants in the transcription factor Six1 and its co-factor Eya1, both …

The specialized sensory organs of the vertebrate head are derived from thickened patches
of cells in the ectoderm called cranial sensory placodes. The developmental program that …

Introduction: The Six1 transcription factor plays important roles in the development of cranial
sensory organs, and point mutations underlie craniofacial birth defects. Because Six1’s …

The Six1 transcription factor plays a major role in craniofacial development. Mutations in
SIX1 and its co-factor, EYA1, are causative for about 50% of Branchio-otic/Branchio-oto-renal …

Background Members of the sulfotransferase superfamily (SULT) influence the activity of a
wide range of hormones, neurotransmitters, metabolites and xenobiotics. However, their roles …

Abundance of urea cycle enzymes in the liver is regulated by dietary protein intake. Although
urea cycle enzyme levels rise in response to a high‐protein (HP) diet, signaling networks …

Bop1 can promote cell proliferation and is a component of the Pes1‐Bop1‐WDR12 (PeBoW)
complex that regulates ribosomal RNA processing and biogenesis. In embryos, however, …

Sobp interacts with Six1 in the cell nucleus and represses the Six1+ Eya1 transcriptional
activation. In Xenopus embryos, Sobp functions during early stages of inner ear development. …