Donating Otx2 to support neighbor neuron survival.
Taejŏn, South Korea. In Bmb Rep, Feb 2016
UNASSIGNED: Mutations of orthodentricle homeobox 2 (OTX2) in human and mice often cause retinal dystrophy and nyctalopia, suggesting a role of OTX2 in mature retina in addition to its functions in eye and retinal development.
Glyphosate induces neurotoxicity in zebrafish.
Fairfield, United States. In Environ Toxicol Pharmacol, Feb 2016
Concomitant with structural changes in the developing brain, using in situ hybridization analysis, we detect decreases in genes expressed in the eye, fore and midbrain regions of the brain including pax2, pax6, otx2 and ephA4.
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 genetic architecture of microphthalmia, anophthalmia and coloboma.
Edinburgh, United Kingdom. In Eur J Med Genet, 2014
In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common.