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Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
Hawthorne F, Feng S, Metlapally R, Li YJ, Tran-Viet KN, Guggenheim JA, Malecaze F, Calvas P, Rosenberg T, Mackey DA, Venturini C, Hysi PG, Hammond CJ, Young TL. Hawthorne F, et al. Invest Ophthalmol Vis Sci. 2013 Mar 21;54(3):2076-86. doi: 10.1167/iovs.12-11102. Invest Ophthalmol Vis Sci. 2013. PMID: 23422819 Free PMC article.
CONCLUSIONS: In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative association, and SNPs within PTPRR (quantitative) and PPFIA2 (qualitative and quantitative) approached significance. Three genes identified by o …
CONCLUSIONS: In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative asso …
SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic.
Hanna MG, Suen PH, Wu Y, Reinisch KM, De Camilli P. Hanna MG, et al. J Cell Biol. 2022 Jun 6;221(6):e202111018. doi: 10.1083/jcb.202111018. Epub 2022 May 2. J Cell Biol. 2022. PMID: 35499567 Free PMC article.
The recent structural and functional characterization of VPS13-family proteins has suggested a mechanism through which lipids can be transferred in bulk from one membrane to another at membrane contact sites, and thus independently of vesicular traffic. Here, we show that SHIP164 …
The recent structural and functional characterization of VPS13-family proteins has suggested a mechanism through which lipids can be transfe …
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC); Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Jansen IE, et al. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
Based on complementary analyses in independent human datasets, five functionally validated genes-GPATCH2L, UHRF1BP1L, PTPRH, ARSB, and VPS13C-also showed evidence consistent with genetic replication. ...
Based on complementary analyses in independent human datasets, five functionally validated genes-GPATCH2L, UHRF1BP1L, PTPRH, ARSB, an …