Article
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.
Development (Cambridge, England) - 1 Dec 2001
Brickman J M, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A, Beddington R S, Dattani M
Abstract excerpt
The homeobox gene Hesx1/HESX1 has been implicated in the establishment of anterior pattern in the central nervous system (CNS) in a number of vertebrate species. Its role in pituitary development has been documented through loss-of-function studies in the mouse. A homozygous missense point mutation resulting in a single amino acid substitution, Arg160Cys (R160C), is associated with a heritable form of the human...
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