Recent Publications

 picture of Dr. Shawn Li


Jan 2019   Feb 2019   Mar 2019   Apr 2019


Apr 2019 

  1. Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019 Apr 4;104(4):685-700.
  2. Metcalfe K, Eisen A, Senter L, Armel S, Bordeleau L, Meschino WS, Pal T, Lynch HT, Tung NM, Kwong A, Ainsworth P, Karlan B, Moller P, Eng C, Weitzel JN, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group. International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation. Br J Cancer. 2019 Apr 11.
  3. Lu R and Rogan PK. Transcription factor binding site clusters identify target genes with similar tissue-wide expression and buffer against mutations [version 2; peer review: 2 approved]. F1000Research 2019, 7:1933.

Mar 2019 

  1. Berberich AJ, Huot C, Cao H, McIntyre AD, Robinson JF, Wang J, Hegele RA. Copy Number Variation in GCK in patients with Maturity-Onset Diabetes of the Young. J  Clin Endocrinol Metab. 2019 Mar 26. pii: jc.2018-02574.
  2. Morise AP, Hegele RA. Atypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab. J Clin Lipidol. 2019 Mar 6. pii: S1933-2874(19)30041-8.
  3. Chen AW, Jayasinghe MI, Chung CZ, Rao BS, Kenana R, Heinemann IU, Jackman JE. The Role of 3' to 5' Reverse RNA Polymerization in tRNA Fidelity and Repair. Genes (Basel). 2019 Mar 26;10(3). pii: E250.
  4. McLachlin DT. Song: I love ketone bodies (to the tune of "shape of you"). Biochem Mol Biol Educ. 2019 Mar;47(2):211.
  5. Sadikovic B, Aref-Eshghi E, Levy MA, Rodenhiser D. DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype. Epigenomics. 2019 Mar 15.
  6. Colares VLP, Lima SNL, Sousa NCF, Araújo MC, Pereira DMS, Mendes SJF, Teixeira SA, Monteiro CA, Bandeca MC, Siqueira WL, Moffa EB, Muscará MN, Fernandes ES. Hydrogen peroxide-based products alter inflammatory and tissue damage-related proteins in the gingival crevicular fluid of healthy volunteers: a randomized trial. Sci Rep. 2019 Mar 5;9(1):3457.
  7. Khiyani MF, Ahmadi M, Barbeau J, Feine J, de Souza RF, Siqueira WL, Emami E. Salivary Biomarkers in Denture Stomatitis: A Systematic Review. JDR Clin Trans Res. 2019 Mar 7:2380084419830941. 

Feb 2019 

  1. Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2019 Feb 12.
  2. Borrelli MJ, Youssef A, Boffa MB, Koschinsky ML. New Frontiers in Lp(a)-Targeted Therapies. Trends Pharmacol Sci. 2019 Feb 4. pii: S0165-6147(19)30015-X.
  3. Jiang Y, Berg MD, Genereaux J, Ahmed K, Duennwald ML, Brandl CJ, Lajoie P. Sfp1 links TORC1 and cell growth regulation to the yeast SAGA-complex component Tra1 in response to polyQ proteotoxicity. Traffic. 2019 Feb 10.
  4. Dick FA, Li SS. Drugging RB1 Deficiency: Synthetic Lethality with Aurora Kinases. Cancer Discov. 2019 Feb;9(2):169-172.
  5. Almeida A, Mitchell AL, Boland M, Forster SC, Gloor GB, Tarkowska A, Lawley TD, Finn RD. A new genomic blueprint of the human gut microbiota. Nature. 2019 Feb 11.
  6. Wootton DG, Cox MJ, Gloor GB, Litt D, Hoschler K, German E, Court J, Eneje O,  Keogan L, Macfarlane L, Wilks S, Diggle PJ, Woodhead M, Moffatt MF, Cookson WOC, Gordon SB. A Haemophilus sp. dominates the microbiota of sputum from UK adults with non-severe community acquired pneumonia and chronic lung disease. Sci Rep. 2019 Feb 20;9(1):2388.
  7. Aboalola D, Han VKM. Insulin-Like Growth Factor Binding Protein-6 Promotes the Differentiation of Placental Mesenchymal Stem Cells into Skeletal Muscle Independent of Insulin-Like Growth Factor Receptor-1 and Insulin Receptor. Stem Cells Int. 2019 Feb 17;2019:9245938.
  8. Chung CZ, Jaramillo JE, Ellis MJ, Bour DYN, Seidl LE, Jo DHS, Turk MA, Mann MR, Bi Y, Haniford DB,  Duennwald ML, Heinemann IU. RNA surveillance by uridylation-dependent RNA decay in Schizosaccharomyces pombe. Nucleic Acids Research. 2019 Feb; gkz043.
  9. Hegele RA, Tsimikas S. Lipid-Lowering Agents. Circ Res. 2019 Feb;124(3):386-404.
  10. Rosenson RS, Hegele RA, Koenig W. Cholesterol-Lowering Agents. Circ Res. 2019 Feb;124(3):364-385.
  11. Silveira CRA, MacKinley J, Coleman K, Li Z, Finger E, Bartha R, Morrow SA, Wells J, Borrie M, Tirona RG, Rupar CA, Zou G, Hegele RA, Mahuran D, MacDonald P, Jenkins ME, Jog M, Pasternak SH. Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial. BMC Neurol. 2019 Feb 9;19(1):20.
  12. Lapointe JF, Harvey L, Aziz S, Jordan H, Hegele RA, Lemieux P. A Single-dose, Comparative Bioavailability Study of a Formulation containing OM3 as Phospholipid and Free fatty Acid to an Ethyl Ester Formulation in the Fasting and Fed States. Clin Ther. 2019 Feb 21. pii: S0149-2918(19)30055-4.
  13. Cho SJ, Ghorbani-Choghamarani A, Saito Y, Hudson RHE. 6-Phenylpyrrolocytidine: An Intrinsically Fluorescent, Environmentally Responsive Nucleoside Analogue. Curr Protoc Nucleic Acid Chem. 2019 Feb 6:e75.
  14. Burke AC, Telford DE, Huff MW. Bempedoic acid: effects on lipoprotein metabolism and atherosclerosis. Curr Opin Lipidol. 2019 Feb;30(1):1-9. 
  15. Mok MCY, Campalans A, Pillon MC, Guarné A, Radicella JP, Junop MS. Identification of an XRCC1 DNA binding activity essential for retention at sites of DNA damage. Sci Rep. 2019 Feb 28;9(1):3095.
  16. Bakhtiari M, Konermann L. Protein Ions Generated by Native Electrospray Ionization: Comparison of Gas Phase, Solution, and Crystal Structures. J Phys Chem B. 2019 Feb 6.
  17. Spratt DE, Barber KR, Marlatt NM, Ngo V, Macklin JA, Xiao Y, Konermann L, Duennwald ML, Shaw GS. A Subset of Calcium-binding S100 Proteins Show Preferential Heterodimerization. FEBS J. 2019 Feb 4.
  18. Wei R, Liu X, Voss C, Qin W, Dagnino L, Li L, Vigny M, Li SS. NUMB regulates the endocytosis and activity of the anaplastic lymphoma kinase in an isoform-specific manner. J Mol Cell Biol. 2019 Feb 6.
  19. Said SS, Yin H, Elfarnawany M, Nong Z, O'Neil C, Leong H, Lacefield JC, Mequanint K, Pickering JG. Fortifying Angiogenesis in Ischemic Muscle with FGF9-Loaded Electrospun Poly(Ester Amide) Fibers. Adv Healthc Mater. 2019 Feb 20:e1801294.
  20. McTavish CJ, Bérubé-Janzen W, Wang X, Maitland MER, Salemi LM, Hess DA, Schild-Poulter C. Regulation of c-Raf Stability through the CTLH Complex. Int J Mol Sci. 2019 Feb 21;20(4). pii: E934.
  21. Wang Y, Tadayon R, Shaw GS. Monitoring Interactions Between S100B and the Dopamine D2 Receptor Using NMR Spectroscopy. Methods Mol Biol. 2019;1929:311-324.

Jan 2019

  1. Boffa MB, Koschinsky ML. Oxidized phospholipids as a unifying theory for lipoprotein(a) and cardiovascular disease. Nat Rev Cardiol. 2019 Jan 23.
  2. Paré G, Caku A, McQueen M, Anand SS, Enas E, Clarke R, Boffa MB, Koschinsky M, Wang X, Yusuf S; INTERHEART Investigators. Lipoprotein(a) Levels and the Risk of Myocardial Infarction Among Seven Ethnic Groups. Circulation. 2019 Jan 22.
  3. Lant JT, Berg MD, Heinemann IU, Brandl CJ, O’Donoghue P. Pathways to disease from natural variations in human cytoplasmic tRNAs. J Biol Chem. 2019 Jan 14. pii: jbc.REV118.002982.
  4. Kim SJ, Asfaha S, Dick FA. CDK4 Inhibitors Thwart Immunity by Inhibiting Phospho-RB-NF-κB Complexes. Mol Cell. 2019 Jan 3;73(1):1-2.
  5. Thwaites MJ, Cecchini MJ, Passos DT, Zakirova K, Dick FA. Context dependent roles for RB-E2F transcriptional regulation in tumor suppression. PLoS One. 2019 Jan 31;14(1):e0203577.
  6. Fernandez ML, Dawson A, Hoenisch J, Kim H, Bamford S, Salamanca C, DiMattia G, Shepherd T, Cremona M, Hennessy B, Anderson S, Volik S, Collins CC, Huntsman DG, Carey MS. Markers of MEK inhibitor resistance in low-grade serous ovarian cancer: EGFR is a potential therapeutic target. Cancer Cell Int. 2019 Jan 8;19:10.
  7. Joris BR, Gloor GB. Unaccounted risk of cardiovascular disease: the role of the microbiome in lipid metabolism. Curr Opin Lipidol. 2019 Jan 16.
  8. Rosario FJ, Gupta MB, Myatt L, Powell TL, Glenn JP, Cox L, Jansson T. Mechanistic Target of Rapamycin Complex 1 Promotes the Expression of Genes Encoding Electron Transport Chain Proteins and Stimulates Oxidative Phosphorylation in Primary Human Trophoblast Cells by Regulating Mitochondrial Biogenesis. Sci Rep. 2019 Jan 22;9(1):246.
  9. Hegele RA. Editorial: designing targeted sequencing panels for dyslipidemia. Curr Opin Lipidol. 2019 Jan 16.
  10. Dron JS, Hegele RA. The evolution of genetic-based risk scores for lipids and cardiovascular disease. Curr Opin Lipidol. 2019 Jan 22.
  11. Iacocca MA, Dron JS, Hegele RA. Progress in finding pathogenic DNA copy number variations in dyslipidemia. Curr Opin Lipidol. 2019 Jan 16.
  12. Paquette M, Bernard S, Hegele RA, Baass A. Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia. Atherosclerosis. 2018 Dec 28. pii: S0021-9150(18)31550-8.
  13. Hackam DG, Hegele RA. Cholesterol Lowering and Prevention of Stroke. Stroke. 2019 Jan 3:STROKEAHA118023167.
  14. Lazarte J, Hegele RA. Cannabis effects on lipoproteins. Curr Opin Lipidol. 2019 Jan 14.
  15. Ostapchenko VG, Snir J, Suchy M, Fan J, Cobb MR, Chronik BA, Kovacs M, Prado VF, Hudson RHE, Pasternak SH, Prado MAM, Bartha R. Detection of Active Caspase-3 in Mouse Models of Stroke and Alzheimer's Disease with a Novel Dual Positron Emission Tomography/Fluorescent Tracer [(68)Ga]Ga-TC3-OGDOTA. Contrast Media Mol Imaging. 2019 Jan 14;2019:6403274.
  16. Karas BJ, Moreau N, Deernick TJ, Gibson DG, Venter JC, Smith H, Glass J. Direct transfer of a Mycoplasma mycoides genome to yeast is enhanced by removal of the mycoides glycerol uptake factor gene glpF. ACS Synth Biol. 2019 Jan 15.
  17. Gordon ZB, Soltysiak MP, Leichthammer C, Therrien JA, Meaney RS, Lauzon C, Adams M, Lee DK, Janakirama P, Lachance MA, Karas BJ. Development of a Transformation Method for Metschnikowia borealis and other CUG-Serine Yeasts. Genes. 2019, 10:78.
  18. Yin V, Mian SH, Konermann L. Lysine carbonylation is a previously unrecognized contributor to peroxidase activation of cytochrome c by chloramine-T. Chem Sci. 2019 Jan 7;10(8):2349-2359.
  19. Kuljanin M, Elgamal RM, Bell GI, Xenocostas A, Lajoie GA, Hess DA. Human multipotent stromal cell secreted effectors accelerate islet regeneration. Stem Cells. 2019 Jan 23.
  20. Deng J, Liu AD, Hou GQ, Zhang X, Ren K, Chen XZ, Li SSC, Wu YS, Cao X. N-acetylcysteine decreases malignant characteristics of glioblastoma cells by inhibiting Notch2 signaling. J Exp Clin Cancer Res. 2019 Jan 3;38(1):2.
  21. Sancho M, Gao Y, Hald BO, Yin H, Boulton M, Steven D, MacDougall K, Parrent A, Pickering JG, Welsh D. An Assessment of K(IR) Channel Function in Human Cerebral Arteries. Am J Physiol Heart Circ Physiol. 2019 Jan 25.
  22. Dunmore-Buyze PJ, Cruje C, Nong Z, Lee JJ, Kiernan JA, Pickering JG, Drangova M. 3D vessel-wall virtual histology of whole-body perfused mice using a novel heavy element stain. Sci Rep. 2019 Jan 24;9(1):698.
  24. Mucaki EJ, Zhao JZL, Lizotte DJ, Rogan PK. Predicting responses to platin chemotherapy agents with biochemically-inspired machine learning. Signal Transduct Target Ther. 2019 Jan 11;4:1.
  25. Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A. 2019 Jan 16.
  26. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Jan 6.
  27. Krstic M, Kolendowski B, Cecchini MJ, Postenka CO, Hassan HM, Andrews J, MacMillan CD, Williams K, Leong HS, Brackstone M, Torchia J, Chambers AF, Tuck AB. TBX3 promotes progression of pre-invasive breast cancer cells by inducing EMT and directly up-regulating SLUG. J Pathol. 2019 Jan 29.