A ROR2 coding variant is associated with craniofacial variation in domestic pigeons
Sign Up to like & getrecommendations! Published in 2021 at "Current Biology"
DOI: 10.1016/j.cub.2021.08.068
Abstract: Vertebrate craniofacial morphogenesis is a highly orchestrated process that is directed by evolutionarily conserved developmental pathways.1,2 Within species, canalized development typically produces modest morphological variation. However, as a result of millennia of artificial selection, the… read more here.
Keywords: ror2 coding; coding variant; craniofacial variation; variation ... See more keywords
A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-41504-7
Abstract: The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy. In the kidney, the enzyme DOPA Decarboxylase… read more here.
Keywords: coding variant; ddc gene; renal dopamine; enzyme ... See more keywords
A non-coding variant in 5' untranslated region drove up-regulation of Pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac223
Abstract: Hereditary hearing loss has a genetic and phenotypic heterogeneity. However, it is still difficult to explain this heterogeneity perfectly with known deafness genes. Here, we report a novel causative gene EPHA10 as well as its… read more here.
Keywords: hearing loss; loss; epha10; coding variant ... See more keywords