Invited Reviews

 

Charis L. Himeda and Peter L. Jones.  2019.  The Good, The Bad, and The Unexpected: Roles of DUX4 in Health and Disease.  Dev Cell.  50(5):525-526.  PMID: 31505171.

 

Charis L. Himeda and Peter L. Jones.  2019.  Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.  Annual Review of Genomics & Human Genetics.  20:265-291.  PMID: 31018108.

Himeda CL, Jones TI, and Jones PL.  (2016)  Scalpel or straitjacket: CRISPR/Cas9 approaches for muscular dystrophies.  Trends in Pharmacological Sciences, Cell Press.  PMID: 26917062.

 

Himeda CL, Jones TI and Jones PL.  (2014)  Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and Disease. Antioxidants & redox signaling.  PMID: 25336259

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Charis L. Himeda and Charles P. Emerson, Jr.  2012.  Fascioscapulohumeral muscular dystrophy: unraveling the mysteries of a complex epigenetic disease.  “Muscle: Fundamental Biology and Mechanisms of Disease.”  Elsevier.  Ed: Joseph Hill and Eric Olson. 

 

Charis L. Himeda, Phillip Tai, and Stephen D. Hauschka.  2012.  Analysis of Muscle Gene Transcription in Cultured Skeletal Muscle Cells.  Methods Mol Biol.  798: 425-43.  PMID: 22130852.

 

Charis L. Himeda, Xiaolan Chen, and Stephen D. Hauschka.  2011.  Design and Testing of Regulatory Cassettes for Optimal Activity in Skeletal and Cardiac Muscle.  Methods Mol Biol.  709: 3-19.  PMID: 21194018.

 

Charis L. Himeda and Stephen D. Hauschka.  2010.  Proteomic Strategies for Understanding Cardiac Function, Development, and Disease.  “Heart Development and Regeneration.”  Academic Press.  Ed: Nadia Rosenthal and Richard P. Harvey.

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Publications

 

Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL and Tupler R.  (2020)  Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.  Int J Mol Sci, 21 (7). PMID: 32290091

 

Lim KRQ, Maruyama R, Echigoya Y, Nguyen Q, Zhang A, Khawaja H, Sen Chandra S, Jones T, Jones P, Chen YW and Yokota T.  (2020)  Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy.  Proc Natl Acad Sci USA, 117 (28).  PMID: 32601200

 

Jones TI, Chew GL, Barraza-Flores P, Schreier S, Ramirez M, Wuebbles RD, Burkin DJ, Bradley RK and Jones PL.  (2020)  Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.  Skelet Muscle, 10 (1). PMID: 32278354

 

Mueller AL, O'Neill A, Jones TI, Llach A, Rojas LA, Sakellariou P, Stadler G, Wright WE, Eyerman D, Jones PL and Bloch RJ. (2019)  Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy.  Exp Neurol, 320. PMID: 31306642

 

Jones T and Jones PL.  (2018)  A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.  PLoS One, 13. PMID: 29415061

 

Himeda CL, Jones TI, Virbasius CM, Zhu LJ, Green MR and Jones PL.  (2018)  Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy.  Mol Ther, 26. PMID: 29759937

 

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Jr., Lin AE, Katsanis N, Jones PL, Crowley WF, Jr., Davis EE, FitzPatrick DR and Talkowski ME.  (2017)  SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.  Nat Genet, 49.  PMID: 28067909

 

Jones TI, Himeda CL, Perez DP and Jones PL.  (2017) Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.  Neuromuscul Disord, 27(3). PMID: 28161093

 

Jones TI, Parilla M and Jones PL.  (2016) Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).  PLoS One, 11(3). PMID: 26942723

 

Himeda CL, Jones TI and Jones PL.  (2016) CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.  Mol Ther, 24(3). PMID: 26527377

 

Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP, Jr., Miller JB, Wagner KR and Jones PL.  (2015)  Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.  Clinical epigenetics, 7(1). PMID: 25904990

 

Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Jr., Kunkel LM, Partridge TA and Wagner KR.  (2014)  Human skeletal muscle xenograft as a new preclinical model for muscle disorders.  Hum Mol Genet. 23(12). PMID: 24452336

 

Wei Y, Reveal B, Reich J, Laursen WJ, Senger S, Akbar T, Iida-Jones T, Cai W, Jarnik M and Lilly MA.  (2014)  TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and oocyte development in Drosophila.  Proc Natl Acad Sci U S A, 111(52). PMID: 25512509

 

Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD and Jones PL.  (2014)  Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.  Clinical epigenetics, 6(1). PMID: 25400706

 

Himeda CL, Debarnot C, Homma S, Beermann ML, Miller JB, Jones PL and Jones TI.  (2014)  Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.  Mol Cell Biol, 34(11). PMID: 24636994

 

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM and Kang PB.  (2013)  Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.  Neuromuscul Disord.  PMID: 24128691

 

Liu Q, Jones TI, Bachmann RA, Meghpara M, Rogowski L, Williams BD and Jones PL.  (2012)  C. Elegans PAT-9 is a nuclear zinc finger protein critical for the assembly of muscle attachments.  Cell Biosci, 2(1).  PMID: 22616817

 

Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Jr., Wagner KR and Jones PL.  (2012)  Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis.  Hum Mol Genet, 21(20).  PMID: 22798623

 

Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM and Jones PL.  (2011)  Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein.  J Mol Biol. 411(2).  PMID: 21699900

 

Senger S, Csokmay J, Akbar T, Jones TI, Sengupta P and Lilly MA.  (2011)  The nucleoporin Seh1 forms a complex with Mio and serves an essential tissue-specific function in Drosophila oogenesis.  Development, 138(10).  PMID: 21521741

 

Hanel ML, Sun CY, Jones TI, Long SW, Zanotti S, Milner D and Jones PL.  (2011)  Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.  Differentiation, 81(2).  PMID: 20970242

 

Liu Q, Jones TI, Tang VW, Brieher WM and Jones PL.  (2010)  Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites.  J Cell Sci, 123.  PMID: 20215405

 

Snapp EL, Iida T, Frescas D, Lippincott-Schwartz J and Lilly MA.  (2004)  The fusome mediates intercellular endoplasmic reticulum connectivity in Drosophila ovarian cysts.  Mol Biol Cell, 15(10).  PMID: 15292454

 

Iida T and Lilly MA.  (2004)  missing oocyte encodes a highly conserved nuclear protein required for the maintenance of the meiotic cycle and oocyte identity in Drosophila.  Development, 131(5).  PMID: 14973288

 

Hong A, Lee-Kong S, Iida T, Sugimura I and Lilly MA.  (2003)  The p27cip/kip ortholog dacapo maintains the Drosophila oocyte in prophase of meiosis I.  Development, 130(7).  PMID: 12588841

 

Iida T and Kobayashi S.  (2000)  Delocalization of polar plasm components caused by grandchildless mutations, gs(1)N26 and gs(1)N441, in Drosophila melanogaster.  Dev Growth Differ, 42(1).  PMID: 10831043

 

Iida T and Kobayashi S. (1998)  Essential role of mitochondrially encoded large rRNA for germ-line formation in Drosophila embryos.  Proc Natl Acad Sci U S A, 95(19).  PMID: 9736726

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Takako I. Jones, Charis L. Himeda, Daniel P. Perez, and Peter L. Jones.  2016.  Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating Facioscapulohumeral muscular dystrophy.  Neuromuscular Disorders.  PMID: 28161093.

 

Charis L. Himeda, Takako I. Jones, and Peter L. Jones.  2015.  CRISPR/dCas9-mediated transcriptional inhibition ameliorates the epigenetic dysregulation at D4Z4 and represses DUX4-fl in FSH muscular dystrophy.  Molecular Therapy.  PMID: 26527377.

 

Takako I. Jones, Oliver D. King, Charis L. Himeda, Sachiko Homma, Jennifer C. J. Chen, Mary Lou Beermann, Chi Yan, Charles P. Emerson, Jr, Jeffrey B. Miller, Kathryn R. Wagner, and Peter L. Jones.  2015.  Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.  Clinical Epigenetics.  7:37.  PMID: 25904990.

  

Charis L. Himeda, Marietta V. Barro, and Charles P. Emerson, Jr.  2013.  Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer.  Dev. Biol. 383: 7-14.  PMID: 24036067.

 

Phillip W.L. Tai, Katherine I. Fischer-Aylor, Charis L. Himeda, Catherine L. Smith, Alexandra P. MacKenzie, Deri L. Helterline, John C. Angello, Robert E. Welikson, Barbara J. Wold, and Stephen D. Hauschka.  2011.  Differentiation and fiber type-specific activity of a muscle creatine kinase intronic enhancer.  Skelet Muscle.  1:25.  PMID: 21797989.

 

Charis L. Himeda, Jeffrey A. Ranish, Richard C.M. Pearson, Merlin Crossley, and Stephen D. Hauschka.  2010.  KLF3 regulates muscle-specific gene expression and synergizes with SRF on KLF binding sites.  Molecular and Cellular Biology.  30: 3430-43.  PMID: 20404088.

 

Charis L. Himeda, Jeffrey A. Ranish, and Stephen D. Hauschka.  2008.  Quantitative proteomic identification of MAZ as a transcriptional regulator of muscle-specific genes in skeletal and cardiac myocytes.  Molecular and Cellular Biology.  28: 6521-6535.  PMID: 18710939.

 

Maja Z. Salva, Charis L. Himeda, Phillip W. Tai, Eiko Nishiuchi, Paul Gregorevic, James M. Allen, Eric E. Finn, Quynh G. Nguyen, Michael J. Blankinship, Leonard Meuse, Jeffrey S. Chamberlain, and Stephen D. Hauschka.  2007.  Design of Novel Tissue-Specific Regulatory Cassettes for High-Level Transgene Expression in Skeletal and Cardiac Muscle.  Molecular Therapy. 15: 320-9.  PMID: 17235310.

 

Christopher R.R. Bjornson, Kevin J.P. Griffin, Gist H. Farr III, Akira Terashima, Charis Himeda, Yutaka Kikuchi, and David Kimelman.  2005.  Eomesodermin is a Localized Maternal Determinant Required for Endoderm Induction in Zebrafish.  Developmental Cell.  9: 523-533.  PMID: 16198294.

 

Charis L. Himeda, Jeffrey A. Ranish, John C. Angello, Pascal Maire, Ruedi Aebersold, and Stephen D. Hauschka.  2004.  Quantitative Proteomic Identification of Six4 as the Trex-Binding Factor in the Muscle Creatine Kinase Enhancer.  Molecular and Cellular Biology.  24: 2132-43.  PMID: 14966291. 

 

Quynh-Giao V. Nguyen, Jean N. Buskin, Charis L. Himeda, Margaret A. Shield, and Stephen D. Hauschka.  2003.  Differences in the Function of Three Conserved E-Boxes of the Muscle Creatine Kinase Gene in Cultured Myocytes and in Transgenic Mouse Skeletal and Cardiac Muscle.  Journal of Biological Chemistry.  278: 46494-505.  PMID: 12968024.

 

Quynh-Giao V. Nguyen, Jean N. Buskin, Charis L. Himeda, Christine Fabre-Suver, and Stephen D. Hauschka.  2003.  Transgenic and tissue culture analyses of the muscle creatine kinase enhancer Trex control element in skeletal and cardiac muscle indicate differences in gene expression between muscle types.  Trangenic Research.  12: 337-349.  PMID: 12779122.

 

David B. Schowalter, Charis L. Himeda, Brian L. Winther, Christopher B. Wilson, and Mark A. Kay.  1999.  Implication of Interfering Antibody Formation and Apoptosis as Two Different Mechanisms Leading to Variable Duration of Adenovirus-Mediated Transgene Expression in Immune-Competent Mice.  Journal of Virology.  73: 4755-4766.  PMID: 10233936.

 

Andre Lieber, Chen-Yi He, Leonard Meuse, Charis Himeda, Christopher Wilson, and Mark A. Kay.  1998.  Inhibition of NF-kB Activation in Combination with Bcl-2 Expression Allows for Persistence of First-Generation Adenovirus Vectors in the Mouse Liver.  Journal of Virology.  72: 9267-9277.  PMID: 9765474.

 

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