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Year | Number of Results |
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Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
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 …
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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 …
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Sequence Analysis and Structural Predictions of Lipid Transfer Bridges in the Repeating Beta Groove (RBG) Superfamily Reveal Past and Present Domain Variations Affecting Form, Function and Interactions of VPS13, ATG2, SHIP164, Hobbit and Tweek.
Levine TP.
Levine TP.
Contact (Thousand Oaks). 2022 Jan;5:251525642211343. doi: 10.1177/25152564221134328. Epub 2022 Nov 21.
Contact (Thousand Oaks). 2022.
PMID: 36571082
Free PMC article.
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The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China.
Wen L, Liu L, Shen X, Li H, Zhu Z, Huang H, Cai M, Qian D, Shen S, Qiu Y, Cui Y, Sheng Y.
Wen L, et al.
Ann Hum Genet. 2020 May;84(3):221-228. doi: 10.1111/ahg.12362. Epub 2019 Nov 5.
Ann Hum Genet. 2020.
PMID: 31691269
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