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Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K. Kaneko H, et al. Hum Genet. 2011 Nov;130(5):671-83. doi: 10.1007/s00439-011-1006-9. Epub 2011 May 19. Hum Genet. 2011. PMID: 21594610
The same SNPs, however, were also detected in normouricemic individuals in three families. We then identified two missense SNVs in ZPBP2 and GPATCH8 on chromosome 17 that cosegregated with hyperuricemia in the Japanese family. ...GPATCH8 is only 5.8 Mbp distant from …
The same SNPs, however, were also detected in normouricemic individuals in three families. We then identified two missense SNVs in ZPBP2 and …
Identification of the susceptible genes and mechanism underlying the comorbid presence of coronary artery disease and rheumatoid arthritis: a network modularization analysis.
Zhang S, Niu Q, Tong L, Liu S, Wang P, Xu H, Li B, Zhang H. Zhang S, et al. BMC Genomics. 2023 Jul 20;24(1):411. doi: 10.1186/s12864-023-09519-7. BMC Genomics. 2023. PMID: 37474895 Free PMC article.
With GS 0.5 and MM 0.8, 49 hub genes were identified, such as ADO, ABCA11P, POT1, ZNF141, GPATCH8, ATF6 and MIA3, etc. The area under the curve values of the representative seven hub genes under the three models (LR, KNN, SVM) were greater than 0.88. ...
With GS 0.5 and MM 0.8, 49 hub genes were identified, such as ADO, ABCA11P, POT1, ZNF141, GPATCH8, ATF6 and MIA3, etc. The area under …
Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression.
Chapman RM, Tinsley CL, Hill MJ, Forrest MP, Tansey KE, Pardiñas AF, Rees E, Doyle AM, Wilkinson LS, Owen MJ, O'Donovan MC, Blake DJ. Chapman RM, et al. Schizophr Bull. 2019 Oct 24;45(6):1267-1278. doi: 10.1093/schbul/sby183. Schizophr Bull. 2019. PMID: 30597088 Free PMC article.
We show that ZNF804A is a nuclear protein that interacts with neuronal RNA splicing factors and RNA-binding proteins including RBFOX1, which is also associated with schizophrenia, CELF3/4, components of the ubiquitin-proteasome system and the ZNF804A paralog, GPATCH8. G …
We show that ZNF804A is a nuclear protein that interacts with neuronal RNA splicing factors and RNA-binding proteins including RBFOX1, which …
Using off-target data from whole-exome sequencing to improve genotyping accuracy, association analysis and polygenic risk prediction.
Dou J, Wu D, Ding L, Wang K, Jiang M, Chai X, Reilly DF, Tai ES, Liu J, Sim X, Cheng S, Wang C. Dou J, et al. Brief Bioinform. 2021 May 20;22(3):bbaa084. doi: 10.1093/bib/bbaa084. Brief Bioinform. 2021. PMID: 32591784
The two novel loci, both associated with glycated haemoglobin levels, are GPATCH8-SLC4A1 (rs369762319, P = 2.56 10-12) and ROR2 (rs1201042, P = 3.24 10-8). ...
The two novel loci, both associated with glycated haemoglobin levels, are GPATCH8-SLC4A1 (rs369762319, P = 2.56 10-12) and ROR2 (rs12 …