Cell-fate determination of pluripotent cells, cell proliferation, differentiation, and maturation,
as well as the maintenance of stem cells, are essential cellular events during …

Pierre Robin sequence (PRS) is a craniofacial anomaly comprising mandibular hypoplasia,
cleft secondary palate and glossoptosis leading to life‐threatening obstructive apnea and …

Background The early gonad is bipotential and can differentiate into either a testis or an
ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male …

The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years
ago with the identification of mutations in and around the gene in patients with campomelic …

During the last decade, a tremendous amount of work has been devoted to the study of the
molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders …

The group E SOX proteins consist of SOX8, SOX9 and SOX10. These transcription factors
contain, besides a DNA-binding HMG domain and a transactivation domain, a DNA …

Background SOX9 mutations cause the skeletal malformation syndrome campomelic
dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a …

Hypospadias is one of the most common congenital malformations. It is considered to be a
mild form of the 46, XY disorders of sex development (DSD), but its precise etiology remains …

Hypospadias is one of the most frequent genital malformations in the male newborn and
results from an abnormal penile and urethral development. This process requires a correct …

Humans may share more genomic commonalities with other species than previously
thought. According to current estimates,~ 5% of the human genome is functionally …