Neuronal labeling patterns in the spinal cord of adult transgenic Zebrafish.
Montréal, Canada. In Dev Neurobiol, Oct 2015
We used well-known transgenic lines in which expression of green fluorescent protein (GFP) is driven by promoters to hb9 and isl1 in motoneurons, alx/chx10 and evx1 interneurons, ngn1 in sensory neurons and olig2 in oligodendrocytes, as well as antibodies for neurons (HuC/D, NF and SV2) and glia (GFAP).
Genetic Evidence for the Role of the Vacuole in Supplying Secretory Organelles with Ca2+ in Hansenula polymorpha.
Moscow, Russia. In Plos One, 2014
Here we observed that in the yeast Hansenula polymorpha Ca2+ deficiency in the secretory pathway caused by Pmr1 inactivation is exacerbated by (i) the ret1-27 mutation affecting COPI-mediated vesicular transport, (ii) inactivation of the vacuolar Ca2+ ATPase Pmc1 and (iii) inactivation of Vps35, which is a component of the retromer complex responsible for protein transport between the vacuole and secretory organelles.
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.
Eye development genes and known syndromes.
San Francisco, United States. In Mol Genet Metab, 2011
In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
Anophthalmia and microphthalmia.
Edinburgh, United Kingdom. In Orphanet J Rare Dis, 2006
Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases.
Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum.
Basel, Switzerland. In Cell, 1995
Whereas retrieval was unaffected in most sec mutants tested (sec7, sec12, sec13, sec16, sec17, sec18, sec19, sec22, and sec23), a defect in retrieval was observed in previously characterized coatomer mutants (sec21-1, sec27-1), as well as in newly isolated retrieval mutants (sec21-2, ret1-1).