Publications by authors named "Juan I Young"

43Publications

Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival.

Front Cell Dev Biol 2020 8;8:576654. Epub 2020 Sep 8.

The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, United States.

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http://dx.doi.org/10.3389/fcell.2020.576654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509448PMC
September 2020

Recent advancements in understanding the role of epigenetics in the auditory system.

Gene 2020 Nov 29;761:144996. Epub 2020 Jul 29.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144996DOI Listing
November 2020

Use of local genetic ancestry to assess -523' and risk for Alzheimer disease.

Neurol Genet 2020 Apr 3;6(2):e404. Epub 2020 Mar 3.

John P. Hussman Institute for Human Genomics (P.L.B., F.R., A.G., D.A.D., P.W., L.D.A., P.R.M., M.C., G.W.B., M.A.P.-V., J.I.Y., J.M.V.), Miller School of Medicine, University of Miami; Dr. John T. MacDonald Foundation Department of Human Genetics (A.G., M.C., G.W.B., M.A.P.-V., J.I.Y., J.M.V.), Miller School of Medicine, University of Miami; Department of Population and Quantitative Health Sciences (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Wake Forest School of Medicine (G.S.B.), Bowman Gray Center for Medical Education, Winston-Salem, NC.

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http://dx.doi.org/10.1212/NXG.0000000000000404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164968PMC
April 2020

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Am J Med Genet C Semin Med Genet 2019 12 18;181(4):548-556. Epub 2019 Nov 18.

School of Life and Environmental Sciences, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.c.31752DOI Listing
December 2019

Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease.

Neurol Genet 2019 Aug 24;5(4):e342. Epub 2019 Jun 24.

John P. Hussman Institute for Human Genomics (J.I.Y., S.K.S., A.A., A.M., D.M.D., G.W.B., E.R.M., M.P.-V., W.K.S., J.M.V.), Miller School of Medicine, University of Miami; Department of Public Health Sciences (L.W.), Division of Biostatistics, Miller School of Medicine, University of Miami; Department of Neurology (D.A.D., D.C.M.), Miller School of Medicine, University of Miami; Department of Pathology (C.K.P.), Miller School of Medicine, University of Miami, FL; and Department of Pathology (T.J.M.), Stanford University, CA.

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http://dx.doi.org/10.1212/NXG.0000000000000342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659138PMC
August 2019

Neuronal SIRT1 (Silent Information Regulator 2 Homologue 1) Regulates Glycolysis and Mediates Resveratrol-Induced Ischemic Tolerance.

Stroke 2017 11 10;48(11):3117-3125. Epub 2017 Oct 10.

From the Cerebral Vascular Disease Research Laboratories (K.B.K., N.K., I.S., C.H.C., H.M.S.-C., K.R.D., M.A.P.-P.), Department of Neurology (K.B.K., N.K., I.S., C.H.C., H.M.S.-C., K.R.D., M.A.P.-P.), The Miami Project to Cure Paralysis (Z.B.L.), Department of Neurological Surgery (Z.B.L.), John P. Hussman Institute for Human Genomics (J.I.Y.) and Department of Human Genetics (J.I.Y.), University of Miami Leonard M. Miller School of Medicine, FL.

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http://dx.doi.org/10.1161/STROKEAHA.117.018562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654689PMC
November 2017

The NAD-Dependent Family of Sirtuins in Cerebral Ischemia and Preconditioning.

Antioxid Redox Signal 2018 03 7;28(8):691-710. Epub 2017 Aug 7.

1 Department of Neurology; Cerebral Vascular Research Laboratories; and Neuroscience Program, Miller School of Medicine, University of Miami , Miami, Florida.

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http://dx.doi.org/10.1089/ars.2017.7258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824497PMC
March 2018

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.

Biology (Basel) 2017 Apr 27;6(2). Epub 2017 Apr 27.

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

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http://dx.doi.org/10.3390/biology6020025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485472PMC
April 2017

Resveratrol Preconditioning Induces a Novel Extended Window of Ischemic Tolerance in the Mouse Brain.

Stroke 2015 Aug 9;46(8):2293-8. Epub 2015 Jul 9.

From the Cerebral Vascular Disease Research Laboratories (K.B.K., K.R.D., I.S., J.W.T., J.T.N., M.A.P.-P.), Department of Neurology (K.B.K., K.R.D., I.S., J.W.T., J.T.N., M.A.P.-P.), and Neuroscience Program (K.B.K., K.R.D., J.I.Y., M.A.P.-P.), Hussman Institute for Human Genetics (V.C., J.I.Y.), University of Miami Miller School of Medicine, Miami, FL.

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http://dx.doi.org/10.1161/STROKEAHA.115.009876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519394PMC
August 2015

Regulation of the Epigenome by Vitamin C.

Annu Rev Nutr 2015 6;35:545-64. Epub 2015 May 6.

John P. Hussman Institute for Human Genomics.

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http://dx.doi.org/10.1146/annurev-nutr-071714-034228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506708PMC
April 2016

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-014-1509-2DOI Listing
February 2015

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.

EMBO Mol Med 2014 Aug;6(8):1003-15

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA John P. Hussman Institute for Human Genomics, Miller School of Medicine University of Miami, Miami, FL, USA

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http://dx.doi.org/10.15252/emmm.201404044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154129PMC
August 2014

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.

Rare Dis 2014 3;2(1):e967151. Epub 2014 Nov 3.

Dr. John T Macdonald Foundation; Department of Human Genetics; University of Miami; FL, USA; John P. Hussman Institute for Human Genomics; University of Miami; FL, USA.

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http://dx.doi.org/10.4161/2167549X.2014.967151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755234PMC
March 2016

Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate.

Biochem Biophys Res Commun 2013 Oct 8;439(4):522-7. Epub 2013 Sep 8.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.bbrc.2013.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527183PMC
October 2013

Ischemic preconditioning alters the epigenetic profile of the brain from ischemic intolerance to ischemic tolerance.

Neurotherapeutics 2013 Oct;10(4):789-97

Cerebral Vascular Disease Research Laboratories, Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s13311-013-0202-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805868PMC
October 2013

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1111/ahg.12033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3815478PMC
September 2013

Ascorbate induces ten-eleven translocation (Tet) methylcytosine dioxygenase-mediated generation of 5-hydroxymethylcytosine.

J Biol Chem 2013 May 2;288(19):13669-74. Epub 2013 Apr 2.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1074/jbc.C113.464800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650403PMC
May 2013

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

PLoS One 2012 18;7(9):e45155. Epub 2012 Sep 18.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045155PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445574PMC
February 2013

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

Eur J Hum Genet 2012 Jan 10;20(1):69-76. Epub 2011 Aug 10.

Department of Biology, Centro de Estudios Científicos, Valdivia, Chile.

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http://dx.doi.org/10.1038/ejhg.2011.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234513PMC
January 2012

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.

Hum Mol Genet 2010 Jun 4;19(11):2177-90. Epub 2010 Mar 4.

Centro de Estudios Científicos, Valdivia 5110246, Chile.

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http://dx.doi.org/10.1093/hmg/ddq096DOI Listing
June 2010

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.

Hum Mol Genet 2008 Jun 4;17(12):1707-17. Epub 2008 Mar 4.

Centro de Estudios Científicos, Valdivia 5110246, Chile.

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http://dx.doi.org/10.1093/hmg/ddn061DOI Listing
June 2008

Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.

Hum Mol Genet 2007 Oct 17;16(19):2315-25. Epub 2007 Jul 17.

Centro de Estudios Cientificos, Valdivia, Chile.

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http://dx.doi.org/10.1093/hmg/ddm185DOI Listing
October 2007

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Am J Hum Genet 2004 Mar 17;74(3):511-20. Epub 2004 Feb 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1086/382228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182264PMC
March 2004

A role for the endogenous opioid beta-endorphin in energy homeostasis.

Endocrinology 2003 May;144(5):1753-60

Vollum Institute, Oregon Health and Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1210/en.2002-221096DOI Listing
May 2003

Telomerase expression in normal human fibroblasts stabilizes DNA 5-methylcytosine transferase I.

J Biol Chem 2003 May 27;278(22):19904-8. Epub 2003 Mar 27.

Roy M. and Phyllis Gough Huffington Center on Aging, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M301685200
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http://dx.doi.org/10.1074/jbc.M301685200DOI Listing
May 2003

Increased splenocyte proliferative response and cytokine production in beta-endorphin-deficient mice.

J Neuroimmunol 2002 Oct;131(1-2):126-34

Laboratorio de Fisiología y Biología Molecular, Departamento de Biología, Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Buenos Aires, Ciudad Universitaria, Pabellon II, C1428EHA, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/s0165-5728(02)00268-0DOI Listing
October 2002

Absence of dopamine D4 receptors results in enhanced reactivity to unconditioned, but not conditioned, fear.

Eur J Neurosci 2002 Jan;15(1):158-64

Instituto de Investigaciones en Ingeniería Genética y Biología Molecular (CONICET) and Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Vuelta de Obligado 2490, 1428 Buenos Aires, Argentina.

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http://dx.doi.org/10.1046/j.0953-816x.2001.01842.xDOI Listing
January 2002

DNA Methyltransferase I (DNMT1) Inhibition Induces a p21 Dependent Cell Cycle Arrest.

ScientificWorldJournal 2001 5;1:131. Epub 2001 Oct 5.

Huffington Center on Aging, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.

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http://dx.doi.org/10.1100/tsw.2001.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084218PMC
October 2001