Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for basal ganglia calcification in hypoparathyroidism.
In J Clin Endocrinol Metab, 19 Mar 2014
The mRNA expression of bone-transcription-factors (Runx2/osterix), bone morphogenic-proteins (BMP 2 and 4), osteonectin, osteopontin, osteocalcin, vitamin-D-receptor, calcium-sensing-receptor, Na-phosphate-transporters (PiT1, PiT2), NMDAR2b, carbonic-anhydrase-II (CA-II), PTH1 and PTH2-receptors (PTH1R, PTH2R) and PTH-related-peptide were assessed by RT-PCR.
Genetics of primary open angle glaucoma.
Tokyo, Japan. In Jpn J Ophthalmol, 31 Jan 2014
Several association studies have been conducted for candidate genes, and genome-wide association studies recently identified new susceptibility loci for POAG, namely, S1 RNA binding domain 1 region on chromosome 2p21, the caveolin 1 and caveolin 2 regions on 7q31, transmembrane and coiled-coil domain 1 region on 1q24, cyclin-dependent kinase inhibitor 2B antisense RNA on 9p21, the SIX1 and SIX6 regions on 14q24 and, possibly, the regulatory region of 8q22.
EYA1-SIX1 complex in neurosensory cell fate induction in the mammalian inner ear.
New York City, United States. In Hear Res, Mar 2013
The phosphatase-transactivator EYA1 interacts with the homeodomain protein SIX1 to form transcriptional activation complexes, which play essential roles in regulating cell proliferation, survival and induction of sensory and neuronal differentiation programs during inner ear development.
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Tokyo, Japan. In Orphanet J Rare Dis, 2012
These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients.
Regulation of calcium sensing receptor trafficking by RAMPs.
Montpellier, France. In Adv Exp Med Biol, 2011
Some years after this initial discovery, it was established that RAMPs can accompany four additional class B G Protein-Coupled Receptors-GPCRs- (PTH1, PTH2, glucagon receptor and VPAC1) to the PM.(1)