Homeobox-Protein HESX1

Wales JK et al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

Dattani MT et al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

Thomas PQ et al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Brickman JM et al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

Tajima T et al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Carvalho LR et al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

Sobrier ML et al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

McNay DE et al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Hermesz E et al. (1996) Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.

Thomas P et al. (1996) Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo.

Cohen RN et al. (2003) Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.

NCBI article

OMIM.ORG article

Orphanet article