Recent advances in central congenital hypothyroidism.
London, United Kingdom. In J Endocrinol, Dec 2015
Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits.
The role of ANKH in pathologic mineralization of cartilage.
Camden, United States. In Curr Opin Rheumatol, Dec 2015
ANKH appears to interact with several cellular proteins, including the phosphate transporter PiT-1, and with proteins involved in NF-kappa β signaling, suggesting that ANKH may play an important non-PPi transporter role.
Required enhancer-matrin-3 network interactions for a homeodomain transcription program.
San Diego, United States. In Nature, 2014
Here investigation of a developmentally required POU-homeodomain transcription factor, Pit1 (also known as Pou1f1), has revealed that, unexpectedly, binding of Pit1-occupied enhancers to a nuclear matrin-3-rich network/architecture is a key event in effective activation of the Pit1-regulated enhancer/coding gene transcriptional program.
Mutations in PROP1 cause familial combined pituitary hormone deficiency.
San Diego, United States. In Nat Genet, 1998
Mutations of the pituitary transcription factor gene POU1F1 (the human homologue of mouse Pit1) are responsible for deficiencies of GH, prolactin and thyroid stimulating hormone (TSH) in Snell and Jackson dwarf mice and in man, while the production of adrenocorticotrophic hormone (ACTH), luteinizing hormone (LH) and follicle stimulating hormone (FSH) is preserved.