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Non-mammalian models for epigenetic analyses in cancer JOURNAL ARTICLE published 15 April 2007 in Human Molecular Genetics |
The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects JOURNAL ARTICLE published 15 July 2009 in Human Molecular Genetics |
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome JOURNAL ARTICLE published 15 November 2014 in Human Molecular Genetics |
A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice JOURNAL ARTICLE published 15 July 2014 in Human Molecular Genetics |
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome JOURNAL ARTICLE published 15 March 2015 in Human Molecular Genetics |
Early hypermethylation of hepaticIgfbp2results in its reduced expression preceding fatty liver in mice JOURNAL ARTICLE published 28 April 2016 in Human Molecular Genetics |
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model JOURNAL ARTICLE published 19 February 2023 in Human Molecular Genetics Research funded by Ontario Ministry of Research and Innovation (ER-18-14-183) | Natural Sciences and Engineering Research Council of Canada (04776–2014) |
Activation of p38 signaling increases utrophin A expression in skeletal muscle via the RNA-binding protein KSRP and inhibition of AU-rich element-mediated mRNA decay: implications for novel DMD therapeutics JOURNAL ARTICLE published 1 August 2013 in Human Molecular Genetics |
Artesunate ameliorates osteoarthritis cartilage damage by updating MTA1 expression and promoting the transcriptional activation of LXA4 to suppress the JAK2/STAT3 signaling pathway JOURNAL ARTICLE published 6 April 2023 in Human Molecular Genetics |
High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity JOURNAL ARTICLE published 15 November 2012 in Human Molecular Genetics |
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function JOURNAL ARTICLE published 1 July 2013 in Human Molecular Genetics |
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves JOURNAL ARTICLE published 27 June 2020 in Human Molecular Genetics Research funded by National Institutes of Health (HD090256,R01 NS066927,RO1 NS083841) |
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2 JOURNAL ARTICLE published 1 October 2014 in Human Molecular Genetics |
Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations JOURNAL ARTICLE published 1 September 2011 in Human Molecular Genetics |
Cloning and characterization of the human choroideremia gene JOURNAL ARTICLE published 1994 in Human Molecular Genetics |
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations JOURNAL ARTICLE published 15 February 2010 in Human Molecular Genetics |
Functional analysis of sucrase–isomaltase mutations from chronic lymphocytic leukemia patients JOURNAL ARTICLE published 1 June 2013 in Human Molecular Genetics |
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method JOURNAL ARTICLE published 1 March 1997 in Human Molecular Genetics |
Microsatellite repeat polymorphism at the D13S197 locus JOURNAL ARTICLE published 1993 in Human Molecular Genetics |
Subscription Page JOURNAL ARTICLE published 15 September 2014 in Human Molecular Genetics |