10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
60 citations
,
July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.