Publications by authors named "Bernadette R Gochuico"

68Publications

Diagnosis of Chediak Higashi disease in a 67-year old woman.

Am J Med Genet A 2020 Sep 29. Epub 2020 Sep 29.

Section of the Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.61886DOI Listing
September 2020

Genetic variants associated with Hermansky-Pudlak syndrome.

Platelets 2020 May 5;31(4):544-547. Epub 2019 Sep 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1080/09537104.2019.1663810DOI Listing
May 2020

Hermansky-Pudlak syndrome: Mutation update.

Hum Mutat 2020 Mar 23;41(3):543-580. Epub 2020 Jan 23.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23968DOI Listing
March 2020

A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.

Transl Res 2020 01 28;215:31-40. Epub 2019 Aug 28.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.trsl.2019.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939610PMC
January 2020

Bleomycin Induces Drug Efflux in Lungs. A Pitfall for Pharmacological Studies of Pulmonary Fibrosis.

Am J Respir Cell Mol Biol 2020 02;62(2):178-190

Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, Maryland; and.

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http://dx.doi.org/10.1165/rcmb.2018-0147OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993545PMC
February 2020

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.

Orphanet J Rare Dis 2019 07 4;14(1):162. Epub 2019 Jul 4.

Center for Translational Medicine and Jane and Leonard Korman Lung Center, Thomas Jefferson University, Philadelphia, USA.

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http://dx.doi.org/10.1186/s13023-019-1143-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610946PMC
July 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

Mol Genet Metab 2018 09 23;125(1-2):168-173. Epub 2018 Jul 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183030
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http://dx.doi.org/10.1016/j.ymgme.2018.07.012DOI Listing
September 2018

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

Front Immunol 2018 31;9:76. Epub 2018 Jan 31.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797737PMC
February 2019

The curse of idiopathic.

J Inherit Metab Dis 2018 01 27;41(1):3-4. Epub 2017 Oct 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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http://dx.doi.org/10.1007/s10545-017-0101-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707969PMC
January 2018

CA-125 in Disease Progression and Treatment of Lymphangioleiomyomatosis.

Chest 2018 02 30;153(2):339-348. Epub 2017 May 30.

Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2017.05.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026218PMC
February 2018

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

Blood Adv 2017 Feb;1(6):357-366

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health. 10 Center Dr, Bldg 10, Room 3-2551, Bethesda, Maryland, USA, 20892. Telephone: 301-594-2952.

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http://dx.doi.org/10.1182/bloodadvances.2016001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446206PMC
February 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Br J Haematol 2017 Jan 21;176(1):118-123. Epub 2016 Oct 21.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1111/bjh.14390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177518PMC
January 2017

Extensive Citrullination Promotes Immunogenicity of HSP90 through Protein Unfolding and Exposure of Cryptic Epitopes.

J Immunol 2016 09 22;197(5):1926-36. Epub 2016 Jul 22.

Division of Rheumatology, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061338PMC
http://dx.doi.org/10.4049/jimmunol.1600162DOI Listing
September 2016

Danazol Treatment for Telomere Diseases.

N Engl J Med 2016 May;374(20):1922-31

From the Hematology Branch (D.M.T., B.D., D.L., B.W., C.C., N.H., N.S.Y.), the Cardiopulmonary Branch (A.D.M.), and the Office of Biostatistics Research (C.O.W.), National Heart, Lung, and Blood Institute, the Center for Human Immunology, Autoimmunity, and Inflammation (A.B.), the Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases (S.L., Y.J.K., T.H.), Radiology and Imaging Sciences, Clinical Center (J.Y., E.J.), and the Medical Genetics Branch, National Human Genome Research Institute (B.R.G.), National Institutes of Health, Bethesda, MD; and the Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto (R.T.C.), and Clinical Hematology, Antônio Ermírio de Moraes Cancer Center, Hospital São José and Beneficência Portuguesa (P.S.), São Paulo.

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http://dx.doi.org/10.1056/NEJMoa1515319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968696PMC
May 2016

MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.

Am J Physiol Lung Cell Mol Physiol 2016 Mar 30;310(6):L519-31. Epub 2015 Dec 30.

Department of Internal Medicine, Justus-Liebig University, Giessen, Germany; Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Centre for Lung Research (DZL), Giessen, Germany;

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http://dx.doi.org/10.1152/ajplung.00213.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888554PMC
March 2016

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Mol Genet Metab 2015 Jan 12;114(1):62-5. Epub 2014 Nov 12.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279856PMC
January 2015

Anti-citrullinated heat shock protein 90 antibodies identified in bronchoalveolar lavage fluid are a marker of lung-specific immune responses.

Clin Immunol 2014 Nov 19;155(1):60-70. Epub 2014 Aug 19.

Department of Medicine, Division of Rheumatology, University of Miami Miller School of Medicine, Miami, FL 33136, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2014.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629481PMC
November 2014

Mononuclear phagocytes and airway epithelial cells: novel sources of matrix metalloproteinase-8 (MMP-8) in patients with idiopathic pulmonary fibrosis.

PLoS One 2014 14;9(5):e97485. Epub 2014 May 14.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Pulmonary Fibrosis Program, Lovelace Respiratory Research Institute, Albuquerque, New Mexico, United States of America; Chronic Obstructive Pulmonary Disease Program, Lovelace Respiratory Research Institute, Albuquerque, New Mexico, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0097485PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4020836PMC
January 2015

Transforming growth factor-β1 downregulates vascular endothelial growth factor-D expression in human lung fibroblasts via the Jun NH2-terminal kinase signaling pathway.

Mol Med 2014 Mar 20;20:120-34. Epub 2014 Mar 20.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.2119/molmed.2013.00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960396PMC
March 2014

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Mol Med 2012 Feb 10;18:56-64. Epub 2012 Feb 10.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, United States of America.

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http://www.molmed.org/content/pdfstore/11_198_Gochuico.pdf
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http://dx.doi.org/10.2119/molmed.2011.00198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269640PMC
February 2012

Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.

Fertil Steril 2011 Sep;96(3):711-714.e1

Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-1590, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2011.06.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3165169PMC
September 2011

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

J Invest Dermatol 2011 Dec 11;131(12):2394-400. Epub 2011 Aug 11.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3213276PMC
http://dx.doi.org/10.1038/jid.2011.228DOI Listing
December 2011

Circulating markers of interstitial lung disease and subsequent risk of lung cancer.

Cancer Epidemiol Biomarkers Prev 2011 Oct 9;20(10):2262-72. Epub 2011 Aug 9.

Infections and Immunoepidemiology Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA.

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http://cebp.aacrjournals.org/cgi/doi/10.1158/1055-9965.EPI-1
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http://dx.doi.org/10.1158/1055-9965.EPI-11-0326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189337PMC
October 2011

Automated quantification of high-resolution CT scan findings in individuals at risk for pulmonary fibrosis.

Chest 2011 Dec 26;140(6):1590-1597. Epub 2011 May 26.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1378/chest.10-2545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3231958PMC
December 2011

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

Mol Genet Metab 2011 Jun 21;103(2):128-34. Epub 2011 Mar 21.

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656407PMC
June 2011

Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation.

Chest 2011 May 21;139(5):1203-1209. Epub 2010 Oct 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1378/chest.10-2048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087459PMC
May 2011

Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia.

Am J Respir Crit Care Med 2010 Jul 8;182(2):207-19. Epub 2010 Apr 8.

Department of Internal Medicine II, University of Giessen Lung Center (UGLC), Klinikstrasse 36, 35392 Giessen, Germany.

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http://dx.doi.org/10.1164/rccm.200909-1414OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913235PMC
July 2010

Bleomycin and IL-1beta-mediated pulmonary fibrosis is IL-17A dependent.

J Exp Med 2010 Mar 22;207(3):535-52. Epub 2010 Feb 22.

Immunopathogenesis Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1084/jem.20092121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839145PMC
March 2010

ADP-ribosylation of human defensin HNP-1 results in the replacement of the modified arginine with the noncoded amino acid ornithine.

Proc Natl Acad Sci U S A 2009 Nov 6;106(47):19796-800. Epub 2009 Nov 6.

Translational Medicine Branch and Laboratory of Biochemistry, National Heart, Lung and Blood Institute, Medical Genetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0910633106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785246PMC
November 2009

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Am J Respir Crit Care Med 2009 Dec 3;180(11):1114-21. Epub 2009 Sep 3.

Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1164/rccm.200901-0023OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784416PMC
December 2009

Oxidative stress alters syndecan-1 distribution in lungs with pulmonary fibrosis.

J Biol Chem 2009 Feb 9;284(6):3537-45. Epub 2008 Dec 9.

Department of Cellular & Molecular Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1074/jbc.M807001200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635035PMC
February 2009

MMP1 and MMP7 as potential peripheral blood biomarkers in idiopathic pulmonary fibrosis.

PLoS Med 2008 Apr;5(4):e93

Dorothy P. and Richard P. Simmons Center for Interstitial Lung Diseases, Division of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh School ofMedicine, Pittsburgh, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pmed.0050093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2346504PMC
April 2008

Progressive preclinical interstitial lung disease in rheumatoid arthritis.

Arch Intern Med 2008 Jan;168(2):159-66

Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, 10 Center Dr, MSC 1590, Bethesda, MD 20892-1590, USA.

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http://dx.doi.org/10.1001/archinternmed.2007.59DOI Listing
January 2008

Early interstitial lung disease in familial pulmonary fibrosis.

Am J Respir Crit Care Med 2007 Oct 19;176(7):698-705. Epub 2007 Jul 19.

Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1590, USA.

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http://dx.doi.org/10.1164/rccm.200702-254OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994234PMC
October 2007

Impairment of alveolar macrophage transcription in idiopathic pulmonary fibrosis.

Am J Respir Crit Care Med 2007 Jun 1;175(11):1151-7. Epub 2007 Mar 1.

Pulmonary--Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200607-958OC
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http://dx.doi.org/10.1164/rccm.200607-958OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1899274PMC
June 2007

ADP-ribosyltransferase-specific modification of human neutrophil peptide-1.

J Biol Chem 2006 Jun 20;281(25):17054-60. Epub 2006 Apr 20.

Pulmonary-Critical Care Medicine Branch and Laboratory of Biochemistry, NHLBI, National Institutes of Health, Bethesda, Maryland 20892-1590, USA.

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http://dx.doi.org/10.1074/jbc.M603042200DOI Listing
June 2006

Atherosclerotic plaque macrophage transcriptional regulators are expressed in blood and modulated by tristetraprolin.

Circ Res 2006 May 13;98(10):1282-9. Epub 2006 Apr 13.

Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1161/01.RES.0000222284.48288.28DOI Listing
May 2006