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Transcriptional Changes following Cellular Knockdown of the Schizophrenia Risk Gene SETD1A Are Enriched for Common Variant Association with the Disorder.

Cameron D, Blake DJ, Bray NJ, Hill MJ.

Mol Neuropsychiatry. 2019 Apr;5(2):109-114. doi: 10.1159/000497181. Epub 2019 Mar 25.


A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.

Lamb R, Rohrer JD, Real R, Lubbe SJ, Waite AJ, Blake DJ, Walters RJ, Lashley T, Revesz T, Holton JL, Morris HR.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003913. doi: 10.1101/mcs.a003913. Print 2019 Jun.


Validation du questionnaire MENQOL avec les femmes ayant été traitées pour un cancer gynécologique ou du sein.

Dolye C, Adams L, McAndrew A, Burlein-Hall S, DasGupta T, Blake DJ, Fitch M.

Can Oncol Nurs J. 2018 Jul 1;28(3):234-239. eCollection 2018 Summer. French. No abstract available.

Free PMC Article

Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy.

Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, Blake DJ, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Nakahara M, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.

Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):779-786. doi: 10.1167/iovs.18-25760.


Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression.

Chapman RM, Tinsley CL, Hill MJ, Forrest MP, Tansey KE, Pardiñas AF, Rees E, Doyle AM, Wilkinson LS, Owen MJ, O'Donovan MC, Blake DJ.

Schizophr Bull. 2018 Dec 29. doi: 10.1093/schbul/sby183. [Epub ahead of print]


Synthesis and Characterization of trans-Dichlorotetrakis(imidazole)cobalt(III) Chloride: A New Cobalt(III) Coordination Complex with Potential Prodrug Properties.

Hart KF, Joe NS, Miller RM, Nash HP, Blake DJ, Morris AM.

Bioinorg Chem Appl. 2018 Sep 3;2018:4560757. doi: 10.1155/2018/4560757. eCollection 2018.


Meta-Analysis of Cell Therapy Studies in Heart Failure and Acute Myocardial Infarction.

Gyöngyösi M, Haller PM, Blake DJ, Martin Rendon E.

Circ Res. 2018 Jul 6;123(2):301-308. doi: 10.1161/CIRCRESAHA.117.311302.


Ablation of the CD9 receptor in human lung cancer cells using CRISPR/Cas alters migration to chemoattractants including IL-16.

Blake DJ, Martiszus JD, Lone TH, Fenster SD.

Cytokine. 2018 Nov;111:567-570. doi: 10.1016/j.cyto.2018.05.038. Epub 2018 Jun 5.


The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.

Forrest MP, Hill MJ, Kavanagh DH, Tansey KE, Waite AJ, Blake DJ.

Schizophr Bull. 2018 Aug 20;44(5):1100-1110. doi: 10.1093/schbul/sbx164.


Ryanodine receptors are part of the myospryn complex in cardiac muscle.

Benson MA, Tinsley CL, Waite AJ, Carlisle FA, Sweet SMM, Ehler E, George CH, Lai FA, Martin-Rendon E, Blake DJ.

Sci Rep. 2017 Jul 24;7(1):6312. doi: 10.1038/s41598-017-06395-6.


Potency of Human Cardiosphere-Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability.

Harvey E, Zhang H, Sepúlveda P, Garcia SP, Sweeney D, Choudry FA, Castellano D, Thomas GN, Kattach H, Petersen R, Blake DJ, Taggart DP, Frontini M, Watt SM, Martin-Rendon E.

Stem Cells Transl Med. 2017 May;6(5):1399-1411. doi: 10.1002/sctm.16-0229. Epub 2017 Feb 16.


Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A.

Sci Rep. 2017 Feb 3;7:41156. doi: 10.1038/srep41156.


Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

Xiao J, Vemula SR, Xue Y, Khan MM, Carlisle FA, Waite AJ, Blake DJ, Dragatsis I, Zhao Y, LeDoux MS.

Neurobiol Dis. 2017 Feb;98:52-65. doi: 10.1016/j.nbd.2016.11.003. Epub 2016 Nov 24.


Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.

Waite AJ, Carlisle FA, Chan YM, Blake DJ.

Mov Disord. 2016 Nov;31(11):1694-1703. doi: 10.1002/mds.26738. Epub 2016 Aug 18.


Soluble extracellular Klotho decreases sensitivity to cigarette smoke induced cell death in human lung epithelial cells.

Blake DJ, Reese CM, Garcia M, Dahlmann EA, Dean A.

Toxicol In Vitro. 2015 Oct;29(7):1647-52. doi: 10.1016/j.tiv.2015.06.019. Epub 2015 Jun 19.


C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.

Koppers M, Blokhuis AM, Westeneng HJ, Terpstra ML, Zundel CA, Vieira de Sá R, Schellevis RD, Waite AJ, Blake DJ, Veldink JH, van den Berg LH, Pasterkamp RJ.

Ann Neurol. 2015 Sep;78(3):426-38. doi: 10.1002/ana.24453. Epub 2015 Jul 3.


Relationship between cognition and functional outcomes after dysvascular lower extremity amputation: a prospective study.

Williams RM, Turner AP, Green M, Norvell DC, Henderson AW, Hakimi KN, Blake DJ, Czerniecki JM.

Am J Phys Med Rehabil. 2015 Sep;94(9):707-17. doi: 10.1097/PHM.0000000000000235.


SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488-3. Epub 2014 Sep 11.


SGCZ mutations are unlikely to be associated with myoclonus dystonia.

Peall KJ, Ritz K, Waite AJ, Groen JL, Morris HR, Baas F, Blake DJ, Tijssen MA.

Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034. Epub 2014 Apr 30.


The emerging roles of TCF4 in disease and development.

Forrest MP, Hill MJ, Quantock AJ, Martin-Rendon E, Blake DJ.

Trends Mol Med. 2014 Jun;20(6):322-31. doi: 10.1016/j.molmed.2014.01.010. Epub 2014 Mar 1. Review.


Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Waite AJ, Bäumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ.

Neurobiol Aging. 2014 Jul;35(7):1779.e5-1779.e13. doi: 10.1016/j.neurobiolaging.2014.01.016. Epub 2014 Jan 17.


Prevalence and 1-year course of alcohol misuse and smoking in persons with lower extremity amputation as a result of peripheral arterial disease.

Turner AP, Williams RM, Norvell DC, Henderson AW, Hakimi KN, Blake DJ, Czerniecki JM.

Am J Phys Med Rehabil. 2014 Jun;93(6):493-502. doi: 10.1097/PHM.0000000000000055.


Changes in cognitive function from presurgery to 4 months postsurgery in individuals undergoing dysvascular amputation.

Williams RM, Turner AP, Green M, Norvell DC, Henderson AW, Hakimi KN, Blake DJ, Czerniecki JM.

Arch Phys Med Rehabil. 2014 Apr;95(4):663-9. doi: 10.1016/j.apmr.2013.11.013. Epub 2013 Dec 4.


Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.

Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ.

PLoS One. 2013 Aug 23;8(8):e73169. doi: 10.1371/journal.pone.0073169. eCollection 2013.


Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.

Xu L, Lu PJ, Wang CH, Keramaris E, Qiao C, Xiao B, Blake DJ, Xiao X, Lu QL.

Mol Ther. 2013 Oct;21(10):1832-40. doi: 10.1038/mt.2013.156. Epub 2013 Jul 2.


SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308.


Antiviral activity of (+)-sattabacin against varicella zoster.

Mancha SR, Regnery CM, Dahlke JR, Miller KA, Blake DJ.

Bioorg Med Chem Lett. 2013 Jan 15;23(2):562-4. doi: 10.1016/j.bmcl.2012.11.017. Epub 2012 Nov 16.


Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ.

Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160. Epub 2012 Jul 27.


The dystrophin-glycoprotein complex in brain development and disease.

Waite A, Brown SC, Blake DJ.

Trends Neurosci. 2012 Aug;35(8):487-96. doi: 10.1016/j.tins.2012.04.004. Epub 2012 May 23. Review.


Recent advances in the genetics of the ALS-FTLD complex.

Morris HR, Waite AJ, Williams NM, Neal JW, Blake DJ.

Curr Neurol Neurosci Rep. 2012 Jun;12(3):243-50. doi: 10.1007/s11910-012-0268-5. Review.


A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Waite A, De Rosa MC, Brancaccio A, Blake DJ.

Hum Mutat. 2011 Nov;32(11):1246-58. doi: 10.1002/humu.21561. Epub 2011 Sep 15.


Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.

Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR.

Mov Disord. 2011 Aug 15;26(10):1939-42. doi: 10.1002/mds.23791. Epub 2011 Jun 28. Review.


4-Methyl-3-nitro-benzoic acid, a migration inhibitor, prevents breast cancer metastasis in SCID mice.

Guo H, Li M, Chen P, Blake DJ, Kong X, Hao X, Niu R, Zhang N.

Cancer Lett. 2011 Jun 1;305(1):69-75. doi: 10.1016/j.canlet.2011.02.028. Epub 2011 Mar 22. Erratum in: Cancer Lett. 2012 Nov 28;324(2):232.


Sulforaphane inhibits de novo synthesis of IL-8 and MCP-1 in human epithelial cells generated by cigarette smoke extract.

Starrett W, Blake DJ.

J Immunotoxicol. 2011 Jun;8(2):150-8. doi: 10.3109/1547691X.2011.558529. Epub 2011 Mar 14.


Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.

Talbot K, Louneva N, Cohen JW, Kazi H, Blake DJ, Arnold SE.

PLoS One. 2011 Mar 1;6(3):e16886. doi: 10.1371/journal.pone.0016886.


Multiple traumatic limb loss: a comparison of Vietnam veterans to OIF/OEF servicemembers.

Dougherty PJ, McFarland LV, Smith DG, Esquenazi A, Blake DJ, Reiber GE.

J Rehabil Res Dev. 2010;47(4):333-48.


Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Chan YM, Keramaris-Vrantsis E, Lidov HG, Norton JH, Zinchenko N, Gruber HE, Thresher R, Blake DJ, Ashar J, Rosenfeld J, Lu QL.

Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.


TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ.

Schizophr Bull. 2010 May;36(3):443-7. doi: 10.1093/schbul/sbq035. Epub 2010 Apr 26.


Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.

Tang J, LeGros RP, Louneva N, Yeh L, Cohen JW, Hahn CG, Blake DJ, Arnold SE, Talbot K.

Hum Mol Genet. 2009 Oct 15;18(20):3851-63. doi: 10.1093/hmg/ddp329. Epub 2009 Jul 19.


Deletion of Keap1 in the lung attenuates acute cigarette smoke-induced oxidative stress and inflammation.

Blake DJ, Singh A, Kombairaju P, Malhotra D, Mariani TJ, Tuder RM, Gabrielson E, Biswal S.

Am J Respir Cell Mol Biol. 2010 May;42(5):524-36. doi: 10.1165/rcmb.2009-0054OC. Epub 2009 Jun 11.


Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen Mv, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B.

Hum Mutat. 2009 Sep;30(9):E831-44. doi: 10.1002/humu.21063.


TRIM32 is an E3 ubiquitin ligase for dysbindin.

Locke M, Tinsley CL, Benson MA, Blake DJ.

Hum Mol Genet. 2009 Jul 1;18(13):2344-58. doi: 10.1093/hmg/ddp167. Epub 2009 Apr 6.


The neurobiology of the dystrophin-associated glycoprotein complex.

Waite A, Tinsley CL, Locke M, Blake DJ.

Ann Med. 2009;41(5):344-59. doi: 10.1080/07853890802668522. Review.


Targeting Nrf2 with the triterpenoid CDDO-imidazolide attenuates cigarette smoke-induced emphysema and cardiac dysfunction in mice.

Sussan TE, Rangasamy T, Blake DJ, Malhotra D, El-Haddad H, Bedja D, Yates MS, Kombairaju P, Yamamoto M, Liby KT, Sporn MB, Gabrielson KL, Champion HC, Tuder RM, Kensler TW, Biswal S.

Proc Natl Acad Sci U S A. 2009 Jan 6;106(1):250-5. doi: 10.1073/pnas.0804333106. Epub 2008 Dec 22.


Nrf2-regulated glutathione recycling independent of biosynthesis is critical for cell survival during oxidative stress.

Harvey CJ, Thimmulappa RK, Singh A, Blake DJ, Ling G, Wakabayashi N, Fujii J, Myers A, Biswal S.

Free Radic Biol Med. 2009 Feb 15;46(4):443-53. doi: 10.1016/j.freeradbiomed.2008.10.040. Epub 2008 Nov 5.


Asbestos-induced autoimmunity in C57BL/6 mice.

Pfau JC, Sentissi JJ, Li S, Calderon-Garciduenas L, Brown JM, Blake DJ.

J Immunotoxicol. 2008 Apr;5(2):129-37. doi: 10.1080/15476910802085756.


Separation and characterization of respirable amphibole fibers from Libby, Montana.

Webber JS, Blake DJ, Ward TJ, Pfau JC.

Inhal Toxicol. 2008 Jun;20(8):733-40. doi: 10.1080/08958370801932544 .


No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.

Hjermind LE, Vissing J, Asmus F, Krag T, Lochmüller H, Walter MC, Erdal J, Blake DJ, Nielsen JE.

Eur J Neurol. 2008 May;15(5):525-9. doi: 10.1111/j.1468-1331.2008.02116.x. Epub 2008 Mar 18.


Autoantibodies from mice exposed to Libby amphibole asbestos bind SSA/Ro52-enriched apoptotic blebs of murine macrophages.

Blake DJ, Wetzel SA, Pfau JC.

Toxicology. 2008 Apr 18;246(2-3):172-9. doi: 10.1016/j.tox.2008.01.008. Epub 2008 Jan 19.

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