Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Sox2 is expressed in developing foregut endoderm, with highest levels in the future
esophagus and anterior stomach. By contrast, Nkx2. 1 (Titf1) is expressed ventrally, in the …

Approximately 10% of humans with anophthalmia (absent eye) or severe microphthalmia
(small eye) show haploid insufficiency due to mutations in SOX2, a SOXB1-HMG box …

The transcription factor SRY (sex-determining region)-box 2 (SOX2) is an important
functional marker of neural precursor cells (NPCs) and plays a critical role in self-renewal …

Sox2 is a high-mobility transcription factor that is one of the earliest markers of developing
inner ear prosensory domains. In humans, mutations in SOX2 cause sensorineural hearing …

The transcription factor SOX2 is expressed most notably in the developing CNS and
placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in …

This review summarises the key clinical features of septo-optic dysplasia (SOD), the
significant inroads that progress in genetics has made into our understanding of the …

Mutations in CHD7 cause CHARGE syndrome, affecting multiple organs including the inner
ear in humans. We investigate how CHD7 mutations affect inner ear development using …

Inner ear hair cells detect environmental signals associated with hearing, balance, and body
orientation. In humans and other mammals, significant hair cell loss leads to irreversible …