260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
18 citations
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October 2013 in “Stem Cell Research & Therapy” This study found that combining polybrene and a ROCK inhibitor can effectively expand human keratinocyte stem/progenitor cells carrying a transgene, aiding their use in regenerative medicine.
6 citations
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July 2024 in “Heliyon” This study examined the evolutionary and functional homology of steroid 5α-reductase and DET2 proteins, identifying protists as a common ancestor, and discovered a new subclass DET2-like in plants, potentially involved in polyprenol reduction.