A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.

@article{Cohen1995AS,
  title={A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.},
  author={Laurie E. Cohen and Fredric E. Wondisford and Alessandro Salvatoni and Mohamad Maghnie and Fr. Brucker-Davis and Bruce D. Weintraub and Sally Radovick},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1995},
  volume={80 2},
  pages={
          679-84
        }
}
Pit-1 is a member of the POU family of transcription factors regulating mammalian development. Pit-1 is thought to be the major cell-specific activator of both the somatotrophs and lactotrophs in the anterior pituitary. When bound to DNA, Pit-1 activates GH and PRL gene expression. Pit-1 is also important for hormonal regulation of the PRL and TSH-beta genes by TRH and cAMP. We studied two unrelated patients with GH, PRL, and TSH deficiencies. Both patients have the same point mutation in the… CONTINUE READING
BETA

Similar Papers

Citations

Publications citing this paper.
SHOWING 1-10 OF 36 CITATIONS

Pituitary dwarfism in the R271W Pit-1 gene mutation

VIEW 12 EXCERPTS
CITES RESULTS & BACKGROUND
HIGHLY INFLUENCED

Congenital Hypopituitarism: Various Genes, Various Phenotypes.

  • Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
  • 2019
VIEW 1 EXCERPT
CITES BACKGROUND

Genetic disorders of the pituitary.

  • Current opinion in endocrinology, diabetes, and obesity
  • 2012

Growth Hormone Deficiency ( GHD ) and Small

Gucev
  • 2010
VIEW 1 EXCERPT
CITES BACKGROUND