The vertebrate 'neural plate border'is a transient territory located at the edge of the neural
plate containing precursors for all ectodermal derivatives: the neural plate, neural crest …

Abstract Sine Oculis Homeobox 1 (SIX1) is a member of homeobox transcription factor
family having pivotal roles in organismal development and differentiation. This protein …

Hearing loss affects nearly 1.6 billion people and is the third-leading cause of disability
worldwide. Chronic kidney disease (CKD) is also a common condition that is associated with …

Abstract Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and
exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial …

Hearing in infants is essential for brain development, acquisition of verbal language skills,
and development of social interactions. Therefore, it is important to diagnose hearing loss …

The vertebrate 'neural plate border'is a transient territory located at the edge of the neural
plate containing precursors for all ectodermal derivatives: the neural plate; neural crest; …

The association between ear and kidney anomalies has long been recognized. However,
little is known about the underlying mechanisms. In the last two decades, embryonic …

Background: Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder
characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in …

Background Genetic variants of the transcription factor SIX1 and its co‐factor EYA1 underlie
50% of Branchio‐oto‐renal syndrome (BOR) cases. BOR is characterized by craniofacial …

Polymorphisms in protein-coding exons can result in nonfunctional, hypomorphic, or
hyperactive proteins, whereas those in regulatory elements can influence penetrance …