The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

SIX1 interacts with EYA to form a bipartite transcription factor essential for mammalian
development. Loss of function of this complex causes branchio-oto-renal (BOR) syndrome …

Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000
live births, represent about 20% of the prenatally detected anomalies, and constitute the …

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 …

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of
kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia …

Novel genetic aspects of congenital anomalies of kidney and... : Current Opinion in Pediatrics
Novel genetic aspects of congenital anomalies of kidney and urinary tract : Current Opinion in …

Abstract Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder
characterized by branchiogenic malformation, hearing loss and renal anomalies. The …

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 …