Recent Publications

picture of Dr. Shawn Li

2022

Jan 2022   Feb 2022   Mar 2022   Apr 2022   May 2022   June 2022

July 2022   Aug 2022   Sept 2022   Oct 2022   Nov 2022   Dec 2022

2023

Jan 2023   Feb 2023   Mar 2023   Apr 2023

Archives

 

Apr 2023

  1. Hegele RA. DNA testing in dyslipidemia: attitudes and complexities. Curr Opin Lipidol. 2023 Apr 1;34(2):33-34.

Mar 2023

  1. Chaudhry A, Trinder M, Vesely K, Cermakova L, Jackson L, Wang J, Hegele RA, Brunham LR. Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circ Genom Precis Med. 2023 Mar 24:e003887.

Feb 2023

  1. Jacob EO, Hegele RA. How reliable are polygenic risk scores for risk prediction in patients with heart disease? Expert Rev Mol Diagn. 2023 Feb 3.
  2. Hang SMT, Hegele RA, Berberich AJ. Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia. Curr Opin Lipidol. 2023 Feb 2.
  3. Lant JT, Hasan F, Briggs J, Heinemann IU, O'Donoghue P. Genetic Interaction of tRNA-Dependent Mistranslation with Fused in Sarcoma Protein Aggregates. Genes (Basel). 2023 Feb 18;14(2):518.
  4. Paul I, Bolzan D, Youssef A, Gagnon KA, Hook H, Karemore G, Oliphant MUJ, Lin W, Liu Q, Phanse S, White C, Padhorny D, Kotelnikov S, Chen CS, Hu P, Denis GV, Kozakov D, Raught B, Siggers T, Wuchty S, Muthuswamy SK, Emili A. Parallelized multidimensional analytic framework applied to mammary epithelial cells uncovers regulatory principles in EMT. Nat Commun. 2023 Feb 8;14(1):688.
  5. Liu C, Sun Y, Davis R, Cardona ST, Hu P. ABT-MPNN: an atom-bond transformer-based message-passing neural network for molecular property prediction. J Cheminform. 2023 Feb 26;15(1):29.
  6. Scrosati PM, Konermann L. Atomistic Details of Peptide Reversed-Phase Liquid Chromatography from Molecular Dynamics Simulations. Anal Chem. 2023 Feb 6.
  7. Hasan F, Lant JT, O'Donoghue P. Perseverance of protein homeostasis despite mistranslation of glycine codons with alanine. Philos Trans R Soc Lond B Biol Sci. 2023 Feb 27;378(1871):20220029.
  8. Li Z, Shaw GS. Role of calcium-sensor proteins in cell membrane repair. Biosci Rep. 2023 Feb 2:BSR20220765.
  9. Connelly EM, Frankel KS, Shaw GS. Parkin and mitochondrial signalling. Cell Signal. 2023 Feb 18;106:110631.

Jan 2023

  1. Roubtsova A, Scipione CA, Garçon D, Boffa MB, Seidah NG, Koschinsky ML, Prat A. Surface LDLR is a major receptor for lipoprotein(a) clearance in male mice lacking PCSK9. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Jan 25;1868(4):159288.
  2. Zheng Z, Mukhametova L, Boffa MB, Moore EE, Wolberg AS, Urano T, Kim PY. Assays to quantify fibrinolysis: strengths and limitations. Communication from the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee on fibrinolysis. J Thromb Haemost. 2023 Jan 14:S1538-7836(23)00036-3. 
  3. Pellegrino GM, Browne TS, Sharath K, Bari KA, Vancuren SJ, Allen-Vercoe E, Gloor GB, Edgell DR. Metabolically-targeted dCas9 expression in bacteria. Nucleic Acids Res. 2023 Jan 11:gkac1248.
  4. VanderBurgt JT, Harper O, Garnham CP, Kohalmi SE, Menassa R. Plant production of a virus-like particle-based vaccine candidate against porcine reproductive and respiratory syndrome. Front Plant Sci. 2023 Jan 24;14:1044675. 
  5. Wilhelm SDP, Kenana R, Qiu Y, O'Donoghue P, Heinemann IU. Towards a Cure for HARS Disease. Genes (Basel). 2023 Jan 18;14(2):254.
  6. Liu Q, Hu P. Radiogenomic association of deep MR imaging features with genomic profiles and clinical characteristics in breast cancer. Biomark Res. 2023 Jan 24;11(1):9. 
  7. Yin H, Pickering JG. Telomere Length: Implications for Atherogenesis. Curr Atheroscler Rep. 2023 Jan 23.
  8. Saleh AH, Rothe M, Barber DL, McKillop WM, Fraser G, Morel CF, Schambach A, Auray-Blais C, West ML, Khan A, Fowler DH, Rupar CA, Foley R, Medin JA, Keating A. Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease. Mol Ther Methods Clin Dev. 2023 Jan 18;28:262-271.
  9. El Kodsi DN, Tokarew JM, Sengupta R, Lengacher NA, Chatterji A, Nguyen AP, Boston H, Jiang Q, Palmberg C, Pileggi C, Holterman CE, Shutinoski B, Li J, Fehr TK, LaVoie MJ, Ratan RR, Shaw GS, Takanashi M, Hattori N, Kennedy CR, Harper ME, Holmgren A, Tomlinson JJ, Schlossmacher MG. Parkin coregulates glutathione metabolism in adult mammalian brain. Acta Neuropathol Commun. 2023 Jan 23;11(1):19. 

Dec 2022

  1. Akouris PP, Chmiel JA, Stuivenberg GA, Kiattiburut W, Bjazevic J, Razvi H, Grohe B, Goldberg HA, Burton JP, Al KF. Osteopontin phosphopeptide mitigates calcium oxalate stone formation in a Drosophila melanogaster model. Urolithiasis. 2022 Dec 22;51(1):19.
  2. Iosef C, Martin CM, Slessarev M, Gillio-Meina C, Cepinskas G, Han VKM, Fraser DD. COVID-19 plasma proteome reveals novel temporal and cell-specific signatures for disease severity and high-precision disease management. J Cell Mol Med. 2022 Dec 19.
  3. Hegele RA. "Keep on keeping on": Persistence with lipid-lowering treatment in familial hypercholesterolemia. Eur J Prev Cardiol. 2022 Dec 19:zwac297.
  4. Yu D, Liang N, Zebarth J, Shen Q, Ozzoude M, Goubran M, Rabin JS, Ramirez J, Scott CJM, Gao F, Bartha R, Symons S, Haddad SMH, Berezuk C, Tan B, Kwan D, Hegele RA, Dilliott AA, Nanayakkara ND, Binns MA, Beaton D, Arnott SR, Lawrence-Dewar JM, Hassan A, Dowlatshahi D, Mandzia J, Sahlas D, Casaubon L, Saposnik G, Otoki Y, Lanctôt KL, Masellis M, Black SE, Swartz RH, Taha AY, Swardfager W; ONDRI Investigators [Link]. Soluble Epoxide Hydrolase Derived Linoleic Acid Oxylipins, Small Vessel Disease Markers, and Neurodegeneration in Stroke. J Am Heart Assoc. 2022 Dec 30:e026901.
  5. de Jesus VC, Mittermuller BA, Hu P, Schroth RJ, Chelikani P. Association between Downstream Taste Signaling Genes, Oral Microbiome, and Severe Early Childhood Caries. Int J Mol Sci. 2022 Dec 21;24(1):81.
  6. Moreira Machado MAA, Passucci Ambrosio EC, Bringel M, Moffa EB, Siqueira WL, Oliveira TM. Comparative 3D study of dental arches in children with microcephaly associated with congenital Zika syndrome, orofacial cleft. Spec Care Dentist. 2022 Dec 18.
  7. Hassan HM, Onabote O, Isovic M, Passos DT, Dick FA, Torchia J. Regulation of Chromatin Accessibility by the Farnesoid X Receptor Is Essential for Circadian and Bile Acid Homeostasis In Vivo. Cancers (Basel). 2022 Dec 15;14(24):6191.

Nov 2022

  1. Moshkelgosha S, Duong A, Wilson G, Andrews T, Berra G, Renaud-Picard B, Liu M, Keshavjee S, MacParland S, Yeung J, Martinu T, Juvet S. Interferon-stimulated and metallothionein-expressing macrophages are associated with acute and chronic allograft dysfunction after lung transplantation. J Heart Lung Transplant. 2022 Nov;41(11):1556-1569.
  2. Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems R, Graham I, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M, Potter B, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clin Genet. 2022 Nov 10.
  3. Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu CH, Onuchic-Whitford A, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner K, Kispert A, Rosenberger G, Fischer KD, Lienkamp S, Zegers M, Hildebrandt F. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2022 Nov 22:ASN.2022010050.
  4. Ngo V, Duennwald ML. Nrf2 and Oxidative Stress: A General Overview of Mechanisms and Implications in Human Disease. Antioxidants (Basel). 2022 Nov 27;11(12):2345.
  5. Simpson S, Bettauer V, Ramachandran A, Kraemer S, Mahon S, Medina M, Vallès Y, Dumeaux V, Vallès H, Walsh D, Hallett MT. A metagenomic-based study of two sites from the Barbadian reef system, Coral Reefs. 2022. In press.  
  6. Hegele RA. Is Genetic Testing in Hypertriglyceridemia Useful? Arterioscler Thromb Vasc Biol. 2022 Nov 3.
  7. Gidding SS, Hegele RA. Introducing Personalized Medicine Into Pediatric Homozygous Familial Hypercholesterolemia Care. Arterioscler Thromb Vasc Biol. 2022 Nov 3.
  8. Iragorri N, Toccalino D, Mishra S, Chan BC, Dilliott AA, Robinson JF, Hegele RA, Hancock-Howard R; ONDRI Investigators. Cost-effectiveness of a gene sequencing test for Alzheimer's disease in Ontario. J Community Genet. 2022 Nov 25.
  9. Perera SD, Wang J, McIntyre AD, Dron JS, Hegele RA. The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants. J Clin Lipidol. 2022 Nov 22:S1933-2874(22)00328-2.
  10. Berberich AJ, Hegele RA. The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders. Best Pract Res Clin Endocrinol Metab. 2022 Nov 26:101719.
  11. Hegele RA. APOC3 Interference for Familial Chylomicronaemia Syndrome. touchREV Endocrinol. 2022 Nov;18(2):82-83. 
  12. Berberich AJ, Hegele RA. Genetic testing in dyslipidaemia: An approach based on clinical experience. Best Pract Res Clin Endocrinol Metab. 2022 Nov 15:101720.
  13. Zhang P, Frederick MI, Heinemann IU. Terminal Uridylyltransferases TUT4/7 Regulate microRNA and mRNA Homeostasis. Cells. 2022 Nov 23;11(23):3742.
  14. Siddika T, Balasuriya N, Frederick MI, Rozik P, Heinemann IU, O'Donoghue P. Delivery of Active AKT1 to Human Cells. Cells. 2022 Nov 29;11(23):3834.
  15. Huang S, Hu P, Lakowski TM. Bioinformatics driven discovery of small molecule compounds that modulate the FOXM1 and PPARA pathway activities in breast cancer. Pharmacogenomics J. 2022 Nov 24.
  16. de Jesus VC, Mittermuller BA, Hu P, Schroth RJ, Chelikani P. Genetic variants in taste genes play a role in oral microbial composition and severe early childhood caries. iScience. 2022 Nov 9;25(12):105489.
  17. Chowdhury M, Hudson RHE. Exploring Nucleobase Modifications in Oligonucleotide Analogues for Use as Environmentally Responsive Fluorophores and Beyond. Chem Rec. 2022 Nov 7:e202200218.
  18. Konermann L, Haidar Y. Mechanism of Magic Number NaCl Cluster Formation from Electrosprayed Water Nanodroplets. Anal Chem. 2022 Nov 14.
  19. Zeng PYF, Cecchini MJ, Barrett JW, Shammas-Toma M, De Cecco L, Serafini MS, Cavalieri S, Licitra L, Hoebers F, Brakenhoff RH, Leemans CR, Scheckenbach K, Poli T, Wang X, Liu X, Laxague F, Prisman E, Poh C, Bose P, Dort JC, Shaikh MH, Ryan SEB, Dawson A, Khan MI, Howlett CJ, Stecho W, Plantinga P, Daniela da Silva S, Hier M, Khan H, MacNeil D, Mendez A, Yoo J, Fung K, Lang P, Winquist E, Palma DA, Ziai H, Amelio AL, Li SS, Boutros PC, Mymryk JS, Nichols AC. Immune-based classification of HPV-associated oropharyngeal cancer with implications for biomarker-driven treatment de-intensification. EBioMedicine. 2022 Nov 25;86:104373.
  20. Shirley BC, Mucaki EJ, Knoll JHM, Rogan PK. Radiation exposure determination in a secure, cloud-based online environment. Radiation Protection Dosimetry. 2022. In press.
  21. Ahmad P, Hussain A, Siqueira WL. Mass spectrometry-based proteomic approaches for salivary protein biomarkers discovery and dental caries diagnosis: A critical review. Mass Spectrom Rev. 2022 Nov 29:e21822.
  22. De Felice M, Chen C, Rodríguez-Ruiz M, Szkudlarek HJ, Lam M, Sert S, Whitehead SN, Yeung KK, Rushlow WJ, Laviolette SR. Adolescent Δ-9-tetrahydrocannabinol exposure induces differential acute and long-term neuronal and molecular disturbances in dorsal vs. ventral hippocampal subregions. Neuropsychopharmacology. 2022 Nov 19.

Oct 2022

  1. Ball EH, Basilone NT. Filter paper disks as a matrix for manipulation of recombinant proteins. Anal Biochem. 2022 Oct 15;655:114841.
  2. Doerfler AM, Park SH, Assini JM, Youssef A, Saxena L, Yaseen AB, De Giorgi M, Chuecos M, Hurley AE, Li A, Marcovina SM, Bao G, Boffa MB, Koschinsky ML, Lagor WR. LPA disruption with AAV-CRISPR potently lowers plasma apo(a) in transgenic mouse model: A proof-of-concept study. Mol Ther Methods Clin Dev. 2022 Oct 13;27:337-351.
  3. Bari KA, Berg MD, Genereaux J, Brandl CJ, Lajoie P. Tra1 controls the transcriptional landscape of the aging cell. G3 (Bethesda). 2022 Oct 31:jkac287.
  4. Connaughton DM, Hildebrandt F. Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. Am J Med Genet C Semin Med Genet. 2022 Oct 8.
  5. Llaurado Fernandez M, Hijmans EM, Gennissen A, Wong NKY, Li S, Wisman GBA, Hamilton A, Hoenisch J, Dawson A, Lee CH, Bittner M, Kim H, DiMattia GE, Lok CAR, Lieftink C, Beijersbergen RL, de Jong S, Carey MS, Bernards R, Berns K. NOTCH signaling limits the response of Low Grade Serous Ovarian Cancers to MEK inhibition. Mol Cancer Ther. 2022 Oct 5:MCT-22-0004.
  6. Grieves LA, Bottini CLJ, Gloor GB, MacDougall-Shackleton EA. Uropygial gland microbiota differ between free-living and captive songbirds. Sci Rep. 2022 Oct 31;12(1):18283.
  7. Zhang Q, Abdo R, Iosef C, Kaneko T, Cecchini M, Han VK, Li SS. The spatial transcriptomic landscape of non-small cell lung cancer brain metastasis. Nat Commun. 2022 Oct 10;13(1):5983.
  8. Glavinovic T, Thanassoulis G, de Graaf J, Couture P, Hegele RA, Sniderman AD. Physiological Bases for the Superiority of Apolipoprotein B Over Low-Density Lipoprotein Cholesterol and Non-High-Density Lipoprotein Cholesterol as a Marker of Cardiovascular Risk. J Am Heart Assoc. 2022 Oct 18;11(20):e025858.
  9. Zhao PJ, Hegele RA. The Impact of Low-Density Lipoprotein Equation Changes on Cholesterol Treatment in Canada. CJC Open. 2022 Oct 1;5(1):37-42.
  10. Wright DE, Siddika T, Heinemann IU, O'Donoghue P. Delivery of the selenoprotein thioredoxin reductase 1 to mammalian cells. Front Mol Biosci. 2022 Oct 11;9:1031756.
  11. Zhang J, Kong W, Hu P, Jonker D, Moore M, Ringash J, Shapiro J, Zalcberg J, Simes J, Tu D, O'Callaghan CJ, Liu G, Xu W. Clustering on longitudinal quality-of-life measurements using growth mixture models for clinical prognosis: Implementation on CCTG/AGITG CO.20 trial. Cancer Med. 2022 Oct 24.
  12. Balachandran N, Grainger RA, Rob T, Liuni P, Wilson DJ, Junop MS, Berti PJ. Role of Half-of-Sites Reactivity and Inter-Subunit Communications in DAHP Synthase Catalysis and Regulation. Biochemistry. 2022 Oct 5.
  13. Tajoddin NN, Konermann L. Structural Dynamics of a Thermally Stressed Monoclonal Antibody Characterized by Temperature-Dependent H/D Exchange Mass Spectrometry. Anal Chem. 2022 Oct 28.
  14. Spice DM, Cooper TT, Lajoie GA, Kelly GM. Never in Mitosis Kinase 2 regulation of metabolism is required for neural differentiation. Cell Signal. 2022 Oct 1:110484.
  15. Kornmuller A, Cooper TT, Jani A, Lajoie GA, Flynn LE. Probing the effects of matrix-derived microcarrier composition on human adipose-derived stromal cells cultured dynamically within spinner flask bioreactors. J Biomed Mater Res A. 2022 Oct 10.

Sept 2022

  1. Lackie RE, de Miranda AS, Lim MP, Novikov V, Madrer N, Karunatilleke NC, Rutledge BS, Tullo S, Brickenden A, Maitland MER, Greenberg D, Gallino D, Luo W, Attaran A, Shlaifer I, Del Cid Pellitero E, Schild-Poulter C, Durcan TM, Fon EA, Duennwald M, Beraldo FH, Chakravarty MM, Bussey TJ, Saksida LM, Soreq H, Choy WY, Prado VF, Prado MAM. Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo. Acta Neuropathol. 2022 Sep 19.
  2. Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Sep 1;44:106-112.
  3. Qiu Y, Kenana R, Beharry A, Wilhelm SDP, Hsu SY, Siu VM, Duennwald M, Heinemann IU. Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model. Hum Mol Genet. 2022 Sep 26:ddac239.
  4. Paquette M, Carrié A, Bernard S, Cariou B, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A. Effect of LDL receptor mutation type on incident major adverse cardiovascular events in familial hypercholesterolemia. Eur J Prev Cardiol. 2022 Sep 1:zwac188.
  5. Hegele RA. PCSK9 inhibition in children with familial hypercholesterolaemia. Lancet Diabetes Endocrinol. 2022 Sep 5:S2213-8587(22)00254-6.
  6. Shamsudeen I, Hegele RA. Lipoprotein(a) variability over time in adult lipid clinic patients. Atherosclerosis. 2022 Sep 6:S0021-9150(22)01411-3.
  7. Civeira F, Arca M, Cenarro A, Hegele RA. A mechanism-based operational definition and classification of hypercholesterolemia. J Clin Lipidol. 2022 Sep 30:S1933-2874(22)00252-5.
  8. Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N. Guidance for the diagnosis and treatment of hypolipidemia disorders. J Clin Lipidol. 2022 Sep 29:S1933-2874(22)00253-7. 
  9. Guo LT, Amikura K, Jiang HK, Mukai T, Fu X, Wang YS, O'Donoghue P, Söll D, Tharp JM. Ancestral Archaea Expanded the Genetic Code with Pyrrolysine. J Biol Chem. 2022 Sep 21:102521. 
  10. Mortuza R, Ching-Johnson JA, Yin H, O'Neil C, Cronin AE, Randhawa VK, Nong Z, Hashi AA, Li AX, Bartha R, Chu MWA, Pickering JG. Imaging of Glycosaminoglycans in Ascending Aortic Aneurysms With Chemical Exchange Saturation Transfer MRI. JACC Cardiovasc Imaging. 2022 Sep;15(9):1670-1672.
  11. Ahmad P, Hussain A, Carrasco-Labra A, Siqueira W. Salivary Proteins as Dental Caries Biomarkers: A Systematic Review. Caries Res. 2022 Sep 16.
  12. Dos Santos Letieri A, Siqueira WL, Solon-de-Mello M, Masterson D, Freitas-Fernandes LB, Valente AP, Ribeiro de Souza IP, da Silva Fidalgo TK, Maia LC. A critical review on the association of hyposalivation and dental caries in children and adolescents. Arch Oral Biol. 2022 Sep 17;144:105545.

Aug 2022

  1. Andrews TS, MacParland SA. Untangling the web: The complex parenchymal-immune interface in endotoxemia. J Hepatol. 2022 Aug;77(2):296-298.
  2. Algouneh A, Caudle M, Balci T, Andrade A, Penava D, Saleh M. Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability. Clin Case Rep. 2022 Aug 8;10(8):e6202.
  3. Lennon CW, Callahan BP, Cousineau B, Edgell DR, Belfort M. Editorial: Genetically mobile elements repurposed by nature and biotechnologists. Front Mol Biosci. 2022 Aug 29;9:992664.
  4. Telmer PG, Kelman MJ, Renaud JB, Sumarah MW, Garnham CP. Application of Aspergillus niger Fumonisin Amine Oxidase (AnFAO) to Detoxify Fumonisin-Contaminated Maize. Toxins (Basel). 2022 Aug 9;14(8):544.
  5. Khoury M, Bigras JL, Cummings EA, Harris KC, Hegele RA, Henderson M, Morrison KM, St-Pierre J, Wong PD, McCrindle BW. The Detection, Evaluation, and Management of Dyslipidemia in Children and Adolescents: A Canadian Cardiovascular Society/Canadian Pediatric Cardiology Association Clinical Practice Update. Can J Cardiol. 2022 Aug;38(8):1168-1179.
  6. Hegele RA. Lipoprotein(a) and Atrial Fibrillation. J Am Coll Cardiol. 2022 Aug 16;80(7):e49-e50.
  7. Roubtsova A, Garçon D, Lacoste S, Chamberland A, Marcinkiewicz J, Métivier R, Sotin T, Paquette M, Bernard S, Cariou B, Le May C, Koschinsky ML, Seidah NG, Prat A. PCSK9 deficiency results in a specific shedding of excess LDLR in female mice only: Role of hepatic cholesterol. Biochim Biophys Acta Mol Cell Biol Lipids. 2022 Aug 16:159217.
  8. Kronenberg F, Mora S, Stroes ESG, Ference BA, Arsenault BJ, Berglund L, Dweck MR, Koschinsky M, Lambert G, Mach F, McNeal CJ, Moriarty PM, Natarajan P, Nordestgaard BG, Parhofer KG, Virani SS, von Eckardstein A, Watts GF, Stock JK, Ray KK, Tokgözoğlu LS, Catapano AL. Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement. Eur Heart J. 2022 Aug 29:ehac361.
  9. Wilson DP, Jacobson TA, Jones PH, Koschinsky ML, McNeal CJ, Nordestgaard BG, Orringer CE. Use of Lipoprotein(a) in clinical practice: A biomarker whose time has come. A scientific statement from the National Lipid Association. J Clin Lipidol. 2022 Aug 26:S1933-2874(22)00244-6. (Erratum for: J Clin Lipidol. 2019 May - Jun;13(3):374-392.)
  10. de Gutierrez GM, Marin LM, Xiao Y, Escalante-Herrera A, Santos MTBR, Siqueira WL. Detection of periodontal disease activity based on histatin degradation in individuals with cerebral palsy. Heliyon. 2022 Aug 13;8(8):e10134.

July 2022

  1. Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. Epub ahead of print. PMID: 35904121.
  2. Giguere DJ, Bahcheli AT, Slattery SS, Patel RR, Browne TS, Flatley M, Karas BJ, Edgell DR, Gloor GB. Telomere-to-telomere genome assembly of Phaeodactylum tricornutum. PeerJ. 2022 Jul 5;10:e13607.
  3. Gupta MB, Biggar KK, Li C, Nathanielsz PW, Jansson T. Increased Colocalization and Interaction Between Decidual Protein Kinase A and Insulin-like Growth Factor-Binding Protein-1 in Intrauterine Growth Restriction. J Histochem Cytochem. 2022 Jul 8:221554221112702.
  4. Lazarte J, Jurgens SJ, Choi SH, Khurshid S, Morrill VN, Weng LC, Nauffal V, Pirruccello JP, Halford JL, Hegele RA, Ellinor PT, Lunetta KL, Lubitz SA. LMNA Variants and Risk of Adult-Onset Cardiac Disease. J Am Coll Cardiol. 2022 Jul 5;80(1):50-59.
  5. Shamsudeen I, Hegele RA. Safety and efficacy of therapies for chylomicronemia. Expert Rev Clin Pharmacol. 2022 Jul 3:1-11.
  6. Onea G, Maitland MER, Wang X, Lajoie GA, Schild-Poulter C. Distinct assemblies and interactomes of the nuclear and cytoplasmic mammalian CTLH E3 ligase complex. J Cell Sci. 2022 Jul 14:jcs.259638.
  7. Kaneko T, Zeng PYF, Liu X, Abdo R, Barrett JW, Zhang Q, Nichols AC, Li SS. Proteome and phosphoproteome signatures of recurrence for HPV+ head and neck squamous cell carcinoma. Commun Med (Lond). 2022 Jul 30;2:95.
  8. Hutson J, Siu VM, Rupar CA. Raisonnement clinique : L'hydramnios comme marqueur d'un syndrome génétique fœtal dans la population des mennonites du Vieil Ordre au Canada. J Obstet Gynaecol Can. 2022 Jul;44(7):803-807.

June 2022

  1. Alves CAPF, Sherbini O, D'Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, Carli D, Tartaglia M, Balci TB, Powell-Hamilton NN, Schrier Vergano SA, Reutter H, Hoefele J, Günthner R, Roeder ER, Littlejohn RO, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino CB, Mercimek-Andrews S, Denecke J, Lyons MJ, Klopstock T, Bhoj EJ, Bryant L, Vanderver A. Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR Am J Neuroradiol. 2022 Jun 30.
  2. Boffa MB, Koschinsky ML. Understanding the ins and outs of lipoprotein (a) metabolism. Curr Opin Lipidol. 2022 Jun 1;33(3):185-192.
  3. Dilliott AA, Zhang KK, Wang J, Abrahao A, Binns MA, Black SE, Borrie M, Dowlatshahi D, Finger E, Fischer CE, Frank A, Freedman M, Grimes D, Hassan A, Jog M, Kumar S, Lang AE, Mandzia J, Masellis M, Pasternak SH, Pollock BG, Rajji TK, Rogaeva E, Sahlas DJ, Saposnik G, Sato C, Seitz D, Shoesmith C, Steeves TDL, Swartz RH, Tan B, Tang-Wai DF, Tartaglia MC, Turnbull J, Zinman L; ONDRI Investigators, Hegele RA. Targeted copy number variant identification across the neurodegenerative disease spectrum. Mol Genet Genomic Med. 2022 Jun 3:e1986.
  4. Maitland MER, Lajoie GA, Shaw GS, Schild-Poulter C. Structural and Functional Insights into GID/CTLH E3 Ligase Complexes. Int J Mol Sci. 2022; 23(11):5863.
  5. Gyenis L, Menyhart D, Cruise ES, Jurcic K, Roffey SE, Chai DB, Trifoi F, Fess SR, Desormeaux PJ, Núñez de Villavicencio Díaz T, Rabalski AJ, Zukowski SA, Turowec JP, Pittock P, Lajoie G, Litchfield DW. Chemical Genetic Validation of CSNK2 Substrates Using an Inhibitor-Resistant Mutant in Combination with Triple SILAC Quantitative Phosphoproteomics. Front Mol Biosci. 2022 Jun 9;9:909711.
  6. Moussa DG, Ahmad P, Mansour TA, Siqueira WL. Current State and Challenges of the Global Outcomes of Dental Caries Research in the Meta-Omics Era. Front Cell Infect Microbiol. 2022 Jun 17;12:887907.

May 2022

  1. Boffa MB. Beyond fibrinolysis: The confounding role of Lp(a) in thrombosis. Atherosclerosis. 2022 May;349:72-81.
  2. Koschinsky ML, Boffa MB. Oxidized phospholipid modification of lipoprotein(a): Epidemiology, biochemistry and pathophysiology. Atherosclerosis. 2022 May;349:92-100.
  3. Berg MD, Zhu Y, Loll-Krippleber R, Luis BS, Genereaux J, Boone C, Villen J, Brown GW, Brandl CJ. Genetic background and mistranslation frequency determine the impact of mistranslating tRNASerUGG. G3 (Bethesda). 2022 May 19:jkac125.
  4. Hackam DG, Hegele RA. Lipid-Modifying Therapies and Stroke Prevention. Curr Neurol Neurosci Rep. 2022 May 13.
  5. Appleton CT, Hegele RA. Preventing cardiovascular events in patients with inflammatory arthritis: are we missing the mark? Can J Cardiol. 2022 May 20:S0828-282X(22)00322-1.
  6. Suri RS, Lee JY, Ban MR, Shrum B, Tutunea-Fatan E, Ismail OZ, Leckie S, McIntyre A, Xu Q, Lee SH, de Chickera S, Hegele RA, Gunaratnam L. Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans. Kidney Int. 2022 May 27:S0085-2538(22)00381-7.
  7. Siddika T, Heinemann IU, O'Donoghue P. Expanding codon size. Elife. 2022 May 11;11:e78869.
  8. Konermann L, Kim S. Grotthuss Molecular Dynamics Simulations for Modeling Proton Hopping in Electrosprayed Water Droplets. J Chem Theory Comput. 2022 May 11.
  9. Aliyari E, Konermann L. Formation of Gaseous Peptide Ions from Electrospray Droplets: Competition between the Ion Evaporation Mechanism and Charged Residue Mechanism. Anal Chem. 2022 May 19.
  10. Koschinsky ML, Kronenberg F. The long journey of lipoprotein(a) from cardiovascular curiosity to therapeutic target. Atherosclerosis. 2022 May;349:1-6.
  11. Wang M, Liu AD, Niu Q, Feng X, Zheng YY, Chen SJ, Xu H, Li Q, Hou GQ, Bi XY, Lu YZ, Cheng PP, Liang LM, Jiang YH, Zhao LQ, Liu F, Song LJ, Zhou LL, Xiao LY, Chen F, Li SS, Ma WL, Cao X, Ye H. Blockade of phosphotyrosine pathways suggesting SH2 superbinder as a novel therapy for pulmonary fibrosis. Theranostics. 2022 May 26;12(10):4513-4535.
  12. Fraser DD, Cepinskas G, Slessarev M, Martin CM, Daley M, Patel MA, Miller MR, Patterson EK, O'Gorman DB, Gill SE, Higgins I, John JPP, Melo C, Nini L, Wang X, Zeidler J, Cruz-Aguado JA. Critically Ill COVID-19 Patients Exhibit Anti-SARS-CoV-2 Serological Responses. Pathophysiology. 2021 May 17;28(2):212-223.
  13. Xu Y, Ward AD, Goldman D, Yin H, Arpino JM, Nong Z, Lee JJ, O'Neil C, Pickering JG. Arteriolar dysgenesis in ischemic, regenerating skeletal muscle revealed by automated micro-morphometry, computational modeling, and perfusion analysis. Am J Physiol Heart Circ Physiol. 2022 May 6.
  14. Saleh M, Colaiacovo S, Napier MP, Prasad AN, Rupar CA, Prasad C. Pitfalls in Genetic Testing for Consanguineous Pediatric Populations. Case Rep Genet. 2022 May 25;2022:9393042.

Apr 2022

  1. Andrews TS, Atif J, Liu JC, Perciani CT, Ma XZ, Thoeni C, Slyper M, Eraslan G, Segerstolpe A, Manuel J, Chung S, Winter E, Cirlan I, Khuu N, Fischer S, Rozenblatt-Rosen O, Regev A, McGilvray ID, Bader GD, MacParland SA. Single-Cell, Single-Nucleus, and Spatial RNA Sequencing of the Human Liver Identifies Cholangiocyte and Mesenchymal Heterogeneity. Hepatol Commun. 2022 Apr;6(4):821-840.
  2. Clark JR, Gemin M, Youssef A, Marcovina SM, Prat A, Seidah NG, Hegele RA, Boffa MB, Koschinsky ML. Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a). J Lipid Res. 2022 Apr 22:100216.
  3. Rutledge BS, Choy WY, Duennwald ML. Folding or Holding? - Hsp70 and Hsp90 chaperoning of misfolded proteins in neurodegenerative disease. J Biol Chem. 2022 Apr 6:101905.
  4. Wilson CJ, Choy WY, Karttunen M. AlphaFold2: A Role for Disordered Protein/Region Prediction? Int J Mol Sci. 2022 Apr 21;23(9):4591.
  5. Dilliott AA, Andary CM, Stoltz M, Petropavlovskiy AA, Farhan SMK, Duennwald ML. DnaJC7 in Amyotrophic Lateral Sclerosis. Int J Mol Sci. 2022 Apr 7;23(8):4076.
  6. Slattery SS, Giguere DJ, Stuckless EE, Shrestha A, Briere LK, Galbraith A, Reaume S, Boyko X, Say HH, Browne TS, Frederick MI, Lant JT, Heinemann IU, O'Donoghue P, Dsouza L, Martin S, Howard P, Jedeszko C, Ali K, Styba G, Flatley M, Karas BJ, Gloor GB, Edgell DR. Phosphate-regulated expression of the SARS-CoV-2 receptor-binding domain in the diatom Phaeodactylum tricornutum for pandemic diagnostics. Sci Rep. 2022 Apr 29;12(1):7010.
  7. Jacob E, Hegele RA. Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences? Curr Atheroscler Rep. 2022 Apr 7.
  8. Blagojevic C, Heung T, Malecki S, Ying S, Cancelliere S, Hegele R, Bassett A. Hypertriglyceridemia in young adults with a 22q11.2 microdeletion. Eur J Endocrinol. 2022 Apr 1:EJE-21-1104.
  9. Lee SH, Pandya RK, Hussain JS, Lau RJ, Chambers EAB, Geng A, Jin BX, Zhou O, Wu T, Barr L, Junop M. Perceptions of using infographics for scientific communication on social media for COVID-19 topics: a survey study. J Vis Commun Med. 2022 Apr;45(2):39-47.
  10. Qin Y, Zheng Z, Chu B, Kong Q, Ke M, Voss C, Li SSC, Tian R. Generic Plug-and-Play Strategy for High-Throughput Analysis of PTM-Mediated Protein Complexes. Anal Chem. 2022 Apr 26.
  11. Luo J, Tugade T, Sun E, Pena Diaz AM, O'Gorman DB. Sustained AWT1 expression by Dupuytren's disease myofibroblasts promotes a proinflammatory milieu. J Cell Commun Signal. 2022 Apr 12.
  12. Matheson AM, Cunningham RSP, Bier E, Lu J, Dreihuys B, Pickering JG, Diamantouros P, Islam A, Nicholson JM, Parraga G, Blissett S. Hyperpolarized 129Xe Pulmonary MRI and Asymptomatic Atrial Septal Defect. Chest. 2022 Apr;161(4):e199-e202.
  13. Islam F, Leung KK, Walker MD, Al Massri S, Shilton BH. The Unusual Cosubstrate Specificity of NQO2: Conservation Throughout the Amniotes and Implications for Cellular Function. Front Pharmacol. 2022 Apr 20;13:838500.
  14. Sheikh-Mohamed S, Isho B, Chao GYC, Zuo M, Cohen C, Lustig Y, Nahass GR, Salomon-Shulman RE, Blacker G, Fazel-Zarandi M, Rathod B, Colwill K, Jamal A, Li Z, de Launay KQ, Takaoka A, Garnham-Takaoka J, Patel A, Fahim C, Paterson A, Li AX, Haq N, Barati S, Gilbert L, Green K, Mozafarihashjin M, Samaan P, Budylowski P, Siqueira WL, Mubareka S, Ostrowski M, Rini JM, Rojas OL, Weissman IL, Tal MC, McGeer A, Regev-Yochay G, Straus S, Gingras AC, Gommerman JL. Systemic and mucosal IgA responses are variably induced in response to SARS-CoV-2 mRNA vaccination and are associated with protection against subsequent infection. Mucosal Immunol. 2022 Apr 25:1–10.

Mar 2022

  1. Brumwell SL, Van Belois KD, Giguere DJ, Edgell DR, Karas BJ. Conjugation-Based Genome Engineering in Deinococcus radiodurans. ACS Synth Biol. 2022 Mar 7.
  2. Srichaikul K, Hegele RA, Jenkins DJA. Great Chinese Famine and the Effects on Cardiometabolic Health for Future Generations. Hypertension. 2022 Mar;79(3):532-535.
  3. Sunderland KM, Beaton D, Arnott SR, Kleinstiver P, Kwan D, Lawrence-Dewar JM, Ramirez J, Tan B, Bartha R, Black SE, Borrie M, Brien D, Casaubon LK, Coe BC, Cornish B, Dilliott AA, Dowlatshahi D, Finger E, Fischer C, Frank A, Fraser J, Freedman M, Greenberg B, Grimes DA, Hassan A, Hatch W, Hegele RA, Hudson C, Jog M, Kumar S, Lang A, Levine B, Lou W, Mandzia J, Marras C, McIlroy W, Montero-Odasso M, Munoz DG, Munoz DP, Orange JB, Park DS, Pasternak SH, Pieruccini-Faria F, Rajji TK, Roberts AC, Robinson JF, Rogaeva E, Sahlas DJ, Saposnik G, Scott CJM, Seitz D, Shoesmith C, Steeves TDL, Strong MJ, Strother SC, Swartz RH, Symons S, Tang-Wai DF, Tartaglia MC, Troyer AK, Turnbull J, Zinman L, McLaughlin PM, Masellis M, Binns MA; ONDRI Investigators. Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort. Alzheimers Dement. 2022 Mar 30.
  4. Albatany M, Meakin S, Bartha R. Brain pH Measurement Using AACID CEST MRI Incorporating the 2 ppm Amine Resonance. Tomography. 2022 Mar 9;8(2):730-739.
  5. Nagree MS, Felizardo TC, Faber ML, Rybova J, Rupar CA, Foley SR, Fuller M, Fowler DH, Medin JA. Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. EMBO Mol Med. 2022 Mar 17:e14297.
  6. Rodrigues RPCB, Vidigal MTC, Vieira WA, Nascimento GG, Sabino-Silva R, Blumenberg C, Siqueira MF, Siqueira WL, Paranhos LR. Salivary changes in chronic kidney disease and in patients undergoing hemodialysis: a systematic review and meta-analysis. J Nephrol. 2022 Mar 2.
  7. Dunkerley KM, Rintala-Dempsey AC, Salzano G, Tadayon R, Hadi D, Barber KR, Walden H, Shaw GS. Distinct phosphorylation signals drive acceptor versus free ubiquitin chain targeting by Parkin. Biochem J. 2022 Mar 9:BCJ20210741.
  8. Lacoursiere RE, Hadi D, Shaw GS. Acetylation, Phosphorylation, Ubiquitination (Oh My!): Following Post-Translational Modifications on the Ubiquitin Road. Biomolecules. 2022 Mar 18;12(3):467.
  9. Silva PUJ, Oliveira MB, Vieira W, Cardoso SV, Blumenberg C, Franco A, Siqueira WL, Paranhos LR. Oral pigmentation as an adverse effect of chloroquine and hydroxychloroquine use: A scoping review. Medicine (Baltimore). 2022 Mar 18;101(11):e29044.
  10. Marin LM, Xiao Y, Cury JA, Siqueira WL. Engineered Salivary Peptides Reduce Enamel Demineralization Provoked by Cariogenic S. mutans Biofilm. Microorganisms. 2022 Mar 30;10(4):742.

Feb 2022

  1. Isaacson JR, Berg MD, Charles B, Jagiello J, Villén J, Brandl CJ, Moehring AJ. A Novel Mistranslating tRNA Model in Drosophila melanogaster has Diverse, Sexually Dimorphic Effects. G3 (Bethesda). 2022 Feb 10:jkac035.
  2. Habiby R, Bichet DG, Arthus MF, Connaughton D, Shril S, Mane S, Majmundar AJ, Hildebrandt F, Robertson GL. A Novel form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive manner. J Clin Endocrinol Metab. 2022 Feb 9:dgac076.
  3. Buensuceso A, Fritz JL, Collins O, Valdés YR, Borrelli MJ, DiMattia GE, Shepherd TG. Loss of LKB1-NUAK1 signalling enhances NF-κB activity in a spheroid model of high-grade serous ovarian cancer. Sci Rep. 2022 Feb 22;12(1):3011.
  4. Daugherty A, Hegele RA, Lu HS, Mackman N, Rader DJ, Weber C. Web of Science's Citation Median Metrics Overcome the Major Constraints of the Journal Impact Factor. Arterioscler Thromb Vasc Biol. 2022 Feb 3:ATVBAHA122317426.
  5. Reijman MD, Schweizer A, Peterson ALH, Bruckert E, Stratz C, Defesche JC, Hegele RA, Wiegman A. Rationale and design of two trials assessing the efficacy, safety, and tolerability of inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia. Eur J Prev Cardiol. 2022 Feb 17:zwac025.
  6. Hegele RA. Apolipoprotein C-III inhibition to lower triglycerides: one ring to rule them all? Eur Heart J. 2022 Feb 17:ehab890.
  7. Berberich AJ, Hegele RA. Rapidly lowering triglyceride levels by plasma exchange in acute pancreatitis: What's the point? J Clin Apher. 2022 Feb 23.
  8. Blom DJ, Gaudet D, Hegele RA, Patel DS, Cegla J, Kolovou G, Marin LM. A Case Series Assessing the Effects of Lomitapide on Carotid Intima-Media Thickness in Adult Patients with Homozygous Familial Hypercholesterolaemia in a Real-World Setting. Adv Ther. 2022 Feb 23.
  9. Le R, Zhao L, Hegele RA. Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins. J Clin Lipidol. 2022 Feb 12:S1933-2874(22)00030-7.
  10. Frederick MI, Siddika T, Zhang P, Balasuriya N, Turk MA, O'Donoghue P, Heinemann IU. miRNA-Dependent Regulation of AKT1 Phosphorylation. Cells. 2022 Feb 26;11(5):821.
  11. Konermann L, Amster IJ, Smith JC, Verhaert PDEM. The 33rd International Tandem Mass Spectrometry Workshop, Lake Louise, Alberta, Canada. J Am Soc Mass Spectrom. 2022 Feb 14.
  12. Siu VM, Hutson JR, Rupar CA. Clinical Conundrum: Polyhydramnios as a marker for a fetal genetic syndrome in the Canadian Old Order Mennonite population. J Obstet Gynaecol Can. 2022 Feb 4:S1701-2163(22)00048-2.
  13. Onabote O, Hassan HM, Isovic M, Torchia J. The Role of Thymine DNA Glycosylase in Transcription, Active DNA Demethylation, and Cancer. Cancers (Basel). 2022 Feb 1;14(3):765.

Jan 2022

  1. Youssef A, Clark JR, Marcovina SM, Boffa MB, Koschinsky ML. ApoA and ApoB Interact Noncovalently Within Hepatocytes: Implications for Regulation of Lp(a) (Lipoprotein[a]) Levels by Modulation of ApoB Secretion. Arterioscler Thromb Vasc Biol. 2022 Jan 20:ATVBAHA121317335.
  2. Ngo V, Brickenden A, Liu H, Yeung C, Choy WY, Duennwald ML. A novel yeast model detects Nrf2 and Keap1 interactions with Hsp90. Dis Model Mech. 2022 Jan 28:dmm.049258.
  3. Salem A, Wilson CJ, Rutledge BS, Dilliott A, Farhan S, Choy WY, Duennwald ML. Matrin3: Disorder and ALS Pathogenesis. Front Mol Biosci. 2022 Jan 10;8:794646.
  4. Ngo V, Karunatilleke NC, Brickenden A, Choy WY, Duennwald ML. Oxidative Stress-Induced Misfolding and Inclusion Formation of Nrf2 and Keap1. Antioxidants (Basel). 2022 Jan 27;11(2):243.
  5. Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Am J Med Genet A. 2022 Jan 18.
  6. Elhassan EAE, Murray SL, Connaughton DM, Kennedy C, Cormican S, Cowhig C, Stapleton C, Little MA, Kidd K, Bleyer AJ, Živná M, Kmoch S, Fennelly NK, Doyle B, Dorman A, Griffin MD, Casserly L, Harris PC, Hildebrandt F, Cavalleri GL, Benson KA, Conlon PJ. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. J Nephrol. 2022 Jan 31.
  7. Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators (includes Hegele RA). Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Jan 28:S0140-6736(21)02001-8.
  8. Mozaffarian D, Maki KC, Bays HE, Aguilera F, Gould G, Hegele RA, Moriarty PM, Robinson JG, Shi P, Tur JF, Lapointe JF, Aziz S, Lemieux P; TRILOGY (Study of CaPre in Lowering Very High Triglycerides) investigators. Effectiveness of a Novel ω-3 Krill Oil Agent in Patients With Severe Hypertriglyceridemia: A Randomized Clinical Trial. JAMA Netw Open. 2022 Jan 4;5(1):e2141898.
  9. Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 Jan 13.
  10. Rozik P, Szabla R, Lant JT, Kiri R, Wright DE, Junop M, O'Donoghue P. A novel fluorescent reporter sensitive to serine mis-incorporation. RNA Biol. 2022 Jan;19(1):221-233.
  11. Virani SS, Koschinsky ML, Maher L, Mehta A, Orringer CE, Santos RD, Shapiro MD, Saseen JJ. Global think tank on the clinical considerations and management of lipoprotein(a): The top questions and answers regarding what clinicians need to know. Prog Cardiovasc Dis. 2022 Jan 19:S0033-0620(22)00002-0.
  12. Gatie MI, Cooper TT, Khazaee R, Lajoie GA, Kelly GM. Lactate Enhances Mouse ES Cell Differentiation Toward XEN Cells In Vitro. Stem Cells. 2022 Jan 24:sxab022.
  13. Sanchez-Pupo RE, O'Donnell BL, Johnston D, Gyenis L, Litchfield DW, Penuela S. Pannexin 2 is expressed in murine skin and promotes UVB-induced apoptosis of keratinocytes. Mol Biol Cell. 2022 Jan 5:mbcE21080387.
  14. Rajaram A, Milej D, Suwalski M, Kebaya L, Kewin M, Yip L, de Ribaupierre S, Han V, Diop M, Bhattacharya S, St Lawrence K. Assessing cerebral blood flow, oxygenation and cytochrome c oxidase stability in preterm infants during the first 3 days after birth. Sci Rep. 2022 Jan 7;12(1):181.
  15. Marin LM, Xiao Y, Cury JA, Siqueira WL. Modulation of Streptococcus mutans Adherence to Hydroxyapatite by Engineered Salivary Peptides. Microorganisms. 2022 Jan 20;10(2):223.