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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-9-5
pubmed:abstractText
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis, and is the end-product of a carefully orchestrated pattern of expression of signalling molecules and transcription factors leading to the development of this complex organ secreting six hormones from five different cell types. Naturally occurring and transgenic murine models have demonstrated a role for many of these molecules in the aetiology of combined pituitary hormone deficiency (CPHD). These include the transcription factors HESX1, PROP1, POU1F1, LHX3, LHX4, TBX19, SOX2 and SOX3. The expression pattern of these transcription factors dictates the phenotype that results when the gene encoding the relevant transcription factor is mutated. The highly variable phenotype may consist of isolated hypopituitarism, or more complex disorders such as septo-optic dysplasia and holoprosencephaly. Since mutations in any one transcription factor are uncommon, and since the overall incidence of mutations in known transcription factors is low in patients with CPHD, it is clear that many genes remain to be identified, and the characterization of these will further elucidate the pathogenesis of these complex conditions and also shed light on normal pituitary development.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0804-4643
pubmed:author
pubmed:issnType
Print
pubmed:volume
157 Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S3-14
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Hypothalamic and pituitary development: novel insights into the aetiology.
pubmed:affiliation
Developmental Endocrine Research Group, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't