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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
JCI Insight. 2021 Dec 22;6(24):e153474. doi: 10.1172/jci.insight.153474.
JCI Insight. 2021.
PMID: 34784297
Free PMC article.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E.
Radenkovic S, et al. Among authors: dukes rimsky l.
Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30.
Cell Rep Med. 2023.
PMID: 37257447
Free PMC article.
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Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure.
Jones KA, Luo Y, Dukes-Rimsky L, Srivastava DP, Koul-Tewari R, Russell TA, Shapiro LP, Srivastava AK, Penzes P.
Jones KA, et al. Among authors: dukes rimsky l.
PLoS One. 2018 Oct 3;13(10):e0203760. doi: 10.1371/journal.pone.0203760. eCollection 2018.
PLoS One. 2018.
PMID: 30281617
Free PMC article.
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Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Montoya Mdel C, DuPont BR, Srivastava AK.
Dukes-Rimsky L, et al.
Am J Med Genet A. 2011 Sep;155A(9):2146-53. doi: 10.1002/ajmg.a.34137. Epub 2011 Aug 10.
Am J Med Genet A. 2011.
PMID: 21834054
Free PMC article.
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A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK.
Abad C, et al. Among authors: dukes rimsky l.
Biology (Basel). 2018 May 24;7(2):31. doi: 10.3390/biology7020031.
Biology (Basel). 2018.
PMID: 29794985
Free PMC article.
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The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.
Ang CE, Ma Q, Wapinski OL, Fan S, Flynn RA, Lee QY, Coe B, Onoguchi M, Olmos VH, Do BT, Dukes-Rimsky L, Xu J, Tanabe K, Wang L, Elling U, Penninger JM, Zhao Y, Qu K, Eichler EE, Srivastava A, Wernig M, Chang HY.
Ang CE, et al. Among authors: dukes rimsky l.
Elife. 2019 Jan 10;8:e41770. doi: 10.7554/eLife.41770.
Elife. 2019.
PMID: 30628890
Free PMC article.
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