Publications by authors named "Mary Armanios"

64Publications

Anal Cancer as a First Presentation of a Germline Mutation in .

JCO Oncol Pract 2020 Nov 4:OP2000763. Epub 2020 Nov 4.

Johns Hopkins University School of Medicine, Baltimore, MD.

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November 2020

Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.

Chest 2020 Dec 22;158(6):2449-2457. Epub 2020 Jul 22.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD; Sidney Kimmel Comprehensive Cancer, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

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December 2020

Cancer and myeloid clonal evolution in the short telomere syndromes.

Curr Opin Genet Dev 2020 02 7;60:112-118. Epub 2020 Apr 7.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Telomere Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States. Electronic address:

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February 2020

Equity and diversity in academic medicine: a perspective from the JCI editors.

J Clin Invest 2019 10;129(10):3974-3977

Department of Environmental Health and Engineering, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.

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October 2019

Long telomeres and cancer risk: the price of cellular immortality.

J Clin Invest 2019 08 5;129(9):3474-3481. Epub 2019 Aug 5.

Department of Oncology.

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August 2019

Short lymphocyte, but not granulocyte, telomere length in a subset of patients with systemic sclerosis.

Ann Rheum Dis 2019 08 24;78(8):1142-1144. Epub 2019 Jan 24.

Division of Rheumatology, Northwestern Scleroderma Program, Feinberg School of Medicine, Northwestern University, Chicago, Illinois‎, USA

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August 2019

Telomeres in the Clinic, Not on TV.

Authors:
Mary Armanios

Mayo Clin Proc 2018 07;93(7):815-817

Department of Oncology, McKusick-Nathans Institute of Genetic Medicine, Telomere Center, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

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July 2018

Diagnostic utility of telomere length testing in a hospital-based setting.

Proc Natl Acad Sci U S A 2018 03 20;115(10):E2358-E2365. Epub 2018 Feb 20.

Department of Oncology and Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21287;

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March 2018

IPF lung fibroblasts have a senescent phenotype.

Am J Physiol Lung Cell Mol Physiol 2017 Dec 31;313(6):L1164-L1173. Epub 2017 Aug 31.

The Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, Pittsburgh, Pennsylvania;

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December 2017

Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.

J Thorac Oncol 2017 11 24;12(11):1673-1678. Epub 2017 Aug 24.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

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November 2017

Shall we call them "telomere-mediated"? Renaming the idiopathic after the cause is found.

Eur Respir J 2016 12;48(6):1556-1558

Dept of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

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December 2016

Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).

Stem Cell Res 2016 09 5;17(2):205-207. Epub 2016 Aug 5.

Department of Radiation Oncology and Molecular Radiation Sciences, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address:

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September 2016

Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells.

Stem Cell Res 2016 09 12;17(2):296-305. Epub 2016 Aug 12.

Department of Radiation Oncology and Molecular Radiation Sciences, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address:

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September 2016

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.

Sci Transl Med 2016 08;8(351):351ra107

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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August 2016

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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May 2016

Translational strategies in aging and age-related disease.

Nat Med 2015 Dec;21(12):1395-9

Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.

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December 2015

Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes.

Int J Radiat Oncol Biol Phys 2015 Dec 4;93(5):1115-7. Epub 2015 Sep 4.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

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December 2015

Treating Myeloproliferation--On Target or Off?

N Engl J Med 2015 Sep;373(10):965-6

From the Departments of Oncology (M.A.) and Molecular Biology and Genetics (C.W.G.) and the Sidney Kimmel Comprehensive Cancer Center (M.A., C.W.G.), Johns Hopkins University School of Medicine, Baltimore.

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September 2015

The short and long telomere syndromes: paired paradigms for molecular medicine.

Curr Opin Genet Dev 2015 Aug 29;33:1-9. Epub 2015 Jul 29.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States. Electronic address:

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August 2015

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Chest 2015 Oct;148(4):1019-1026

Department of Oncology, Baltimore, MD; Department of Pathology, Baltimore, MD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

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October 2015

Telomere dysfunction causes alveolar stem cell failure.

Proc Natl Acad Sci U S A 2015 Apr 3;112(16):5099-104. Epub 2015 Apr 3.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

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April 2015

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis.

Am J Respir Crit Care Med 2015 Mar;191(6):608-10

1 Medical Scientist Training Program and.

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March 2015

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.

Chest 2015 May;147(5):1361-1368

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

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May 2015

Short telomeres: a repeat offender in IPF.

Lancet Respir Med 2014 Jul 24;2(7):513-4. Epub 2014 Jun 24.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address:

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July 2014

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Eur Respir J 2014 Jul 15;44(1):178-87. Epub 2014 May 15.

Dept of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

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July 2014

Reply: telomerase makes connections between pulmonary fibrosis and emphysema.

Authors:
Mary Armanios

Am J Respir Crit Care Med 2014 Mar;189(6):754-5

1 Johns Hopkins University School of Medicine Baltimore, Maryland.

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March 2014

Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes.

Eur J Haematol 2014 Jun 18;92(6):467-70. Epub 2014 Mar 18.

The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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June 2014

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Hum Mutat 2013 Nov 11;34(11):1481-5. Epub 2013 Sep 11.

Department of Oncology and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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November 2013

Telomeres and age-related disease: how telomere biology informs clinical paradigms.

Authors:
Mary Armanios

J Clin Invest 2013 Mar 1;123(3):996-1002. Epub 2013 Mar 1.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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March 2013

The gastrointestinal manifestations of telomere-mediated disease.

Aging Cell 2013 Apr 4;12(2):319-23. Epub 2013 Jan 4.

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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April 2013

The telomere syndromes.

Nat Rev Genet 2012 Oct 11;13(10):693-704. Epub 2012 Sep 11.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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October 2012

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease.

Authors:
Mary Armanios

Pediatr Blood Cancer 2012 Aug 3;59(2):209-10. Epub 2012 May 3.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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August 2012

Telomeres and disease: an overview.

Mutat Res 2012 Feb 11;730(1-2):1-2. Epub 2011 Nov 11.

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February 2012

Telomerase and idiopathic pulmonary fibrosis.

Authors:
Mary Armanios

Mutat Res 2012 Feb 4;730(1-2):52-8. Epub 2011 Nov 4.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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February 2012

Telomere length is a determinant of emphysema susceptibility.

Am J Respir Crit Care Med 2011 Oct 14;184(8):904-12. Epub 2011 Jul 14.

Department of Oncology, Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, MD 21287, USA.

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October 2011

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Blood 2011 May 24;117(21):5607-11. Epub 2011 Mar 24.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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May 2011

Short telomeres compromise β-cell signaling and survival.

PLoS One 2011 Mar 10;6(3):e17858. Epub 2011 Mar 10.

Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

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March 2011

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

J Med Genet 2011 May 17;48(5):327-33. Epub 2011 Mar 17.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 1650 Orleans St., CRB 186, Baltimore, MD 21287, USA.

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May 2011

Short telomeres are sufficient to cause the degenerative defects associated with aging.

Am J Hum Genet 2009 Dec;85(6):823-32

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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December 2009

Dyskeratosis congenita: the first NIH clinical research workshop.

Pediatr Blood Cancer 2009 Sep;53(3):520-3

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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September 2009

Syndromes of telomere shortening.

Authors:
Mary Armanios

Annu Rev Genomics Hum Genet 2009 ;10:45-61

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21285, USA.

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October 2009

Short telomeres are a risk factor for idiopathic pulmonary fibrosis.

Proc Natl Acad Sci U S A 2008 Sep 27;105(35):13051-6. Epub 2008 Aug 27.

Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.

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September 2008

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity.

Cell 2005 Dec;123(6):1121-31

Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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December 2005

Short telomeres and ataxia-telangiectasia mutated deficiency cooperatively increase telomere dysfunction and suppress tumorigenesis.

Cancer Res 2003 Dec;63(23):8188-96

Departments of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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December 2003