Russell Norris

Dr. Russell A. Norris is currently a Professor of the Department of Regenerative Medicine and Cell Biology at the Medical University of South Carolina. The Norris lab is a multidisciplinary environment with students and postdocs using various molecular, biochemical, biomechanical and "omic" tools to understand a host of common and rare connective tissue diseases. Our lab has spent the past 2 decades understanding the genetics of various syndromic and non-syndromic cardiovascular diseases such as mitral valve and aortic valve diseases and cardiomyopathies. Recently, we identified a very strong candidate gene for hypermobile Ehlers-Danlos syndrome, a "not so rare" connective tissue disease that affects collagen-rich tissues. Using state of the art CRISPR-Cas9 mediated genome editing, we successfully generate mouse models of human diseases to study how the various diseases initiate and progress. Understanding the pathways that cause altered biology has led to development of druggable pathways that are at various stages of development to treat mitral and aortic valve diseases as well as hypermobile EDS.

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The Norris Lab, Medical University of South Carolina

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  1. Moore K, Moore R, Wang C, Norris RA. Tugging at the Heart Strings: The Septin Cytoskeleton in Heart Development and Disease. J Cardiovasc Dev Dis. 2020 Jan 09; 7(1). PMID: 31936541.

  2. Fulmer D, Toomer K, Guo L, Moore K, Glover J, Moore R, Stairley R, Lobo G, Zuo X, Dang Y, Su Y, Fogelgren B, Gerard P, Chung D, Heydarpour M, Mukherjee R, Body SC, Norris RA, Lipschutz JH. Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis. Circulation. 2019 Oct 15; 140(16):1331-1341. PMID: 31387361.

  3. Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Primary cilia defects causing mitral valve prolapse. Sci Transl Med. 2019 05 22; 11(493). PMID: 31118289.

  4. Yu M, Georges A, Tucker NR, Kyryachenko S, Toomer K, Schott JJ, Delling FN, Fernandez-Friera L, Solis J, Ellinor PT, Levine RA, Slaugenhaupt SA, Hagège AA, Dina C, Jeunemaitre X, Milan DJ, Norris RA, Bouatia-Naji N. Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse. Circ Genom Precis Med. 2019 May; 12(5):e002497. PMID: 31112420.

  5. Neri T, Hiriart E, van Vliet PP, Faure E, Norris RA, Farhat B, Jagla B, Lefrancois J, Sugi Y, Moore-Morris T, Zaffran S, Faustino RS, Zambon AC, Desvignes JP, Salgado D, Levine RA, de la Pompa JL, Terzic A, Evans SM, Markwald R, Pucéat M. Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis. Nat Commun. 2019 04 26; 10(1):1929. PMID: 31028265.

  6. Zuo X, Lobo G, Fulmer D, Guo L, Dang Y, Su Y, Ilatovskaya DV, Nihalani D, Rohrer B, Body SC, Norris RA, Lipschutz JH. The exocyst acting through the primary cilium is necessary for renal ciliogenesis, cystogenesis, and tubulogenesis. J Biol Chem. 2019 04 26; 294(17):6710-6718. PMID: 30824539.

  7. Markwald RR, Moreno-Rodriguez RA, Ghatak S, Misra S, Norris RA, Sugi Y. Role of Periostin in Cardiac Valve Development. Adv Exp Med Biol. 2019; 1132:177-191. PMID: 31037635.

  8. Toomer K, Sauls K, Fulmer D, Guo L, Moore K, Glover J, Stairley R, Bischoff J, Levine RA, Norris RA. Filamin-A as a Balance between Erk/Smad Activities During Cardiac Valve Development. Anat Rec (Hoboken). 2019 01; 302(1):117-124. PMID: 30288957.

  9. Burns TA, Deepe RN, Bullard J, Phelps AL, Toomer KA, Hiriart E, Norris RA, Haycraft CJ, Wessels A. A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return. Anat Rec (Hoboken). 2019 01; 302(1):136-145. PMID: 30289203.

  10. Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ. New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study. Eur Heart J. 2018 04 14; 39(15):1269-1277. PMID: 29020406.

  11. Judge DP, Norris RA. Inheritance Impacts Mitral Valve Insufficiency. Circ Cardiovasc Genet. 2017 10; 10(5). PMID: 28993408.

  12. Lobo GP, Fulmer D, Guo L, Zuo X, Dang Y, Kim SH, Su Y, George K, Obert E, Fogelgren B, Nihalani D, Norris RA, Rohrer B, Lipschutz JH. The exocyst is required for photoreceptor ciliogenesis and retinal development. J Biol Chem. 2017 09 08; 292(36):14814-14826. PMID: 28729419.

  13. Toomer KA, Fulmer D, Guo L, Drohan A, Peterson N, Swanson P, Brooks B, Mukherjee R, Body S, Lipschutz JH, Wessels A, Norris RA. A role for primary cilia in aortic valve development and disease. Dev Dyn. 2017 08; 246(8):625-634. PMID: 28556366.

  14. Munjal C, Jegga AG, Opoka AM, Stoilov I, Norris RA, Thomas CJ, Smith JM, Mecham RP, Bressan GM, Hinton RB. Inhibition of MAPK-Erk pathway in vivo attenuates aortic valve disease processes in Emilin1-deficient mouse model. Physiol Rep. 2017 Mar; 5(5). PMID: 28270590.

  15. Barnes RM, Harris IS, Jaehnig EJ, Sauls K, Sinha T, Rojas A, Schachterle W, McCulley DJ, Norris RA, Black BL. MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1. Development. 2016 Mar 01; 143(5):774-9. PMID: 26811383.

  16. Rog-Zielinska EA, Norris RA, Kohl P, Markwald R. The Living Scar--Cardiac Fibroblasts and the Injured Heart. Trends Mol Med. 2016 Feb; 22(2):99-114. PMID: 26776094.

  17. Gould RA, Yalcin HC, MacKay JL, Sauls K, Norris R, Kumar S, Butcher JT. Cyclic Mechanical Loading Is Essential for Rac1-Mediated Elongation and Remodeling of the Embryonic Mitral Valve. Curr Biol. 2016 Jan 11; 26(1):27-37. PMID: 26725196.

  18. Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, Beaudoin J, Bischoff J, Bouatia-Naji N, Bruneval P, Butcher JT, Carpentier A, Chaput M, Chester AH, Clusel C, Delling FN, Dietz HC, Dina C, Durst R, Fernandez-Friera L, Handschumacher MD, Jensen MO, Jeunemaitre XP, Le Marec H, Le Tourneau T, Markwald RR, Mérot J, Messas E, Milan DP, Neri T, Norris RA, Peal D, Perrocheau M, Probst V, Pucéat M, Rosenthal N, Solis J, Schott JJ, Schwammenthal E, Slaugenhaupt SA, Song JK, Yacoub MH. Mitral valve disease--morphology and mechanisms. Nat Rev Cardiol. 2015 Dec; 12(12):689-710. PMID: 26483167.

  19. Martin PS, Kloesel B, Norris RA, Lindsay M, Milan D, Body SC. Embryonic Development of the Bicuspid Aortic Valve. J Cardiovasc Dev Dis. 2015 Dec; 2(4):248-272. PMID: 28529942.

  20. Duval D, Labbé P, Bureau L, Le Tourneau T, Norris RA, Markwald RR, Levine R, Schott JJ, Mérot J. MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions. J Cardiovasc Dev Dis. 2015 Sep 08; 2(3):233-247. PMID: 26594644.

  21. Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J, Le Tourneau T, Chen MH, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA, Jeunemaitre X. Genetic association analyses highlight biological pathways underlying mitral valve prolapse. Nat Genet. 2015 Oct; 47(10):1206-11. PMID: 26301497.


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