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 ART of Lowering Ceramides.
Melbourne, Australia. In Cell Metab, Sep 2015
Using a genetic mouse model to acutely degrade ceramides in adipose tissue or the liver (i.e., by conditionally expressing acid ceramidase), in this issue of Cell MetabolismXia et al. (2015) identify roles for these molecules in insulin resistance, steatohepatitis, and interorgan communication.
Genetic Defects in Thyroid Hormone Supply
Madagascar. In Unknown Journal, 2015
This situation can be determined by alterations in genes involved in ontogeny of the thyroid, including PIT1 and PRPO1, HESX1, LHX3, LHX4 and SOX3 as well as by mutation in the TSH-beta or in the immunoglobulin superfamily member 1 (IGSF1) genes.
Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs.
Essen, Germany. In Nat Med, 2013
Mice overexpressing Asm, heterozygous for acid ceramidase, treated with blockers of ceramide metabolism or directly injected with C16 ceramide in the hippocampus had higher ceramide concentrations and lower rates of neuronal proliferation, maturation and survival compared with controls and showed depression-like behavior even in the absence of stress.