Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Riyadh, Saudi Arabia. In Genet Med, Jan 2016
RESULTS: Consistent with the apparent novelty of the phenotypes, our analysis revealed a strong candidate variant in genes that were novel at the time of the analysis in the majority of cases, and 10 of these genes are published here for the first time as novel candidates (CDK9, NEK9, ZNF668, TTC28, MBL2, CADPS, CACNA1H, HYAL2, CTU2, and C3ORF17).
Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism.
Winnipeg, Canada. In World J Biol Chem, Sep 2015
Its levels are determined, in part, by the hyaluronan synthases, HAS1, HAS2, and HAS3, and three hyaluronidases, HYAL1, HYAL2 and HYAL3.
Sheep retrovirus structural protein induces lung tumours.
Seattle, United States. In Nature, 2005
The host range of JSRV is in part limited by species-specific differences in the virus entry receptor, hyaluronidase 2 (Hyal2), which is not functional as a receptor in mice but is functional in humans.