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1. Full Text Low-grade albuminuria in pulmonary arterial hypertension
by Nickel, Nils P and de Jesus Perez, Vinicio A and Zamanian, Roham T and Fessel, Joshua P and Cogan, Joy D and Hamid, Rizwam and West, James D and de Caestecker, Mark P and Yang, Haichun and Austin, Eric D
Pulmonary Circulation, ISSN 2045-8932, 6/2019, Volume 9, Issue 2, p. 2045894018824564
Low-grade albuminuria, determined by the urinary albumin to creatinine ratio, has been linked to systemic vascular dysfunction and is associated with... 
C-REACTIVE PROTEIN | CARDIAC & CARDIOVASCULAR SYSTEMS | BMPR2 | ENDOTHELIAL DYSFUNCTION | pulmonary hypertension | HEART-FAILURE | PREVALENCE | EXCRETION | BLOOD-PRESSURE | ALL-CAUSE MORTALITY | albuminuria | RESPIRATORY SYSTEM | MICROALBUMINURIA | CARDIOVASCULAR-DISEASE | HEPARAN-SULFATE | outcome | Hypertension | Interferon | Mutation
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2. Full Text Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
by Fingerlin, Tasha E and Murphy, Elissa and Zhang, Weiming and Peljto, Anna L and Brown, Kevin K and Steele, Mark P and Loyd, James E and Cosgrove, Gregory P and Lynch, David and Groshong, Steve and Collard, Harold R and Wolters, Paul J and Bradford, Williamson Z and Kossen, Karl and Seiwert, Scott D and Du Bois, Roland M and Garcia, Christine Kim and Devine, Megan S and Gudmundsson, Gunnar and Isaksson, Helgi J and Kaminski, Naftali and Zhang, Yingze and Gibson, Kevin F and Lancaster, Lisa H and Cogan, Joy D and Mason, Wendi R and Maher, Toby M and Molyneaux, Philip L and Wells, Athol U and Moffatt, Miriam F and Selman, Moises and Pardo, Annie and Kim, Dong Soon and Crapo, James D and Make, Barry J and Regan, Elizabeth A and Walek, Dinesha S and Daniel, Jerry J and Kamatani, Yoichiro and Zelenika, Diana and Smith, Keith and McKean, David and Pedersen, Brent S and Talbert, Janet and Kidd, Raven N and Markin, Cheryl R and Beckman, Kenneth B and Lathrop, Mark and Schwarz, Marvin I and Schwartz, David A
Nature Genetics, ISSN 1061-4036, 06/2013, Volume 45, Issue 6, pp. 613 - 620
We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls... 
SURFACTANT PROTEIN-C | PALMOPLANTAR KERATODERMA | DESMOPLAKIN CAUSES | GENOTYPE IMPUTATION | SIGNALING PATHWAY | HAIR SYNDROME | ABCA3 MUTATIONS | GENETICS & HEREDITY | INTERSTITIAL PNEUMONIA | CELL-ADHESION | RIGHT-VENTRICULAR DYSPLASIA/CARDIOMYOPATHY | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Idiopathic Pulmonary Fibrosis - genetics | Gene Frequency | Humans | Chromosomes, Human | Lung - metabolism | Polymorphism, Single Nucleotide | Genetic Loci | Sequence Analysis, DNA | Case-Control Studies | Pulmonary fibrosis | Physiological aspects | Genetic aspects | Disease susceptibility | Research | Diagnosis | Telomerase | Health aspects | Risk factors | Studies | Genetics | Lungs | Genes
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3. Full Text The Y Chromosome Regulates BMPR2 Expression via SRY: A Possible Reason “Why” Fewer Males Develop Pulmonary Arterial Hypertension
by Yan, Ling and Cogan, Joy D and Hedges, Lora K and Nunley, Bethany and Hamid, Rizwan and Austin, Eric D
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 12/2018, Volume 198, Issue 12, pp. 1581 - 1583
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4. Full Text A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia
by Kropski, Jonathan A., MD and Mitchell, Daphne B., MS and Markin, Cheryl, BS and Polosukhin, Vasiliy V., MD and Choi, Leena, PhD and Johnson, Joyce E., MD and Lawson, William E., MD and Phillips, John A., MD and Cogan, Joy D., PhD and Blackwell, Timothy S., MD and Loyd, James E., MD
Chest, ISSN 0012-3692, 2014, Volume 146, Issue 1, pp. e1 - e7
Short telomeres are frequently identified in patients with idiopathic pulmonary fibrosis (IPF) and its inherited form, familial interstitial pneumonia (FIP).... 
Pulmonary/Respiratory | RISK-FACTOR | GENE | RESPIRATORY SYSTEM | DISEASE | LINKED DYSKERATOSIS-CONGENITA | COHORT | MICE | IDIOPATHIC PULMONARY-FIBROSIS | TELOMERE LENGTH | FEATURES | CRITICAL CARE MEDICINE | Diagnosis, Differential | Lung Diseases, Interstitial - metabolism | Humans | Cell Cycle Proteins - metabolism | In Situ Hybridization, Fluorescence | Male | Nuclear Proteins - metabolism | Tomography, X-Ray Computed | DNA - genetics | Lung Diseases, Interstitial - diagnosis | Lung Diseases, Interstitial - genetics | Biopsy | Pedigree | Polymerase Chain Reaction | Cell Cycle Proteins - genetics | Aged | Mutation | Nuclear Proteins - genetics | Selected Reports | Online Exclusives
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5. Full Text Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
by Armanios, Mary Y and Chen, Julian J.-L and Cogan, Joy D and Alder, Jonathan K and Ingersoll, Roxann G and Markin, Cheryl and Lawson, William E and Xie, Mingyi and Vulto, Irma and Phillips, John A and Lansdorp, Peter M and Greider, Carol W and Loyd, James E
The New England Journal of Medicine, ISSN 0028-4793, 03/2007, Volume 356, Issue 13, pp. 1317 - 1326
Mutations affecting both components of the telomerase enzyme, hTERT and hTR, are associated with familial idiopathic pulmonary fibrosis, and carriers of such... 
CATALYTIC SUBUNIT | MEDICINE, GENERAL & INTERNAL | RNA | GENE | DOMINANT DYSKERATOSIS-CONGENITA | REVERSE-TRANSCRIPTASE | ANTICIPATION | SEQUENCE | SENESCENCE | IDENTIFICATION | APLASTIC-ANEMIA | Humans | Male | Pulmonary Fibrosis - genetics | Mutation, Missense | Reverse Transcriptase Polymerase Chain Reaction | RNA - genetics | Radiography | Telomere - pathology | Telomerase - genetics | Genes, Dominant | Pedigree | Pulmonary Fibrosis - diagnostic imaging | Telomere - enzymology | Female | Heterozygote | Telomerase - metabolism | Mutation | Telomere - genetics | Genetic code | Care and treatment | Pulmonary fibrosis | Genetic aspects | Diagnosis | Research | Telomerase | Bone marrow | Genetics | Lungs
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6. Full Text Short Telomeres Are a Risk Factor for Idiopathic Pulmonary Fibrosis
by Jonathan K. Alder and Julian J.-L. Chen and Lisa Lancaster and Sonye Danoff and Shu-chih Su and Joy D. Cogan and Irma Vulto and Mingyi Xie and Xiaodong Qi and Rubin M. Tuder and John A. Phillips and Peter M. Lansdorp and James E. Loyd and Mary Y. Armanios
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2008, Volume 105, Issue 35, pp. 13051 - 13056
Idiopathic interstitial pneumonias (IIPs) have a progressive and often fatal course, and their enigmatic etiology has complicated approaches to effective... 
Telomeres | Pulmonary alveoli | Lungs | Interstitial lung diseases | Idiopathic pulmonary fibrosis | Liver | Fibrosis | Dyskeratosis congenita | Genetic mutation | Liver cirrhosis | Liver fibrosis | Interstitial lung disease | Telomerase | Aplastic anemia | RNA | MULTIDISCIPLINARY SCIENCES | DOMINANT DYSKERATOSIS-CONGENITA | REVERSE-TRANSCRIPTASE | LENGTH | IN-SITU HYBRIDIZATION | TERMINAL TRANSFERASE | liver fibrosis | dyskeratosis congenita | telomerase | GENE | interstitial lung disease | FAMILIES | aplastic anemia | MUTATIONS | APLASTIC-ANEMIA | Biomarkers - metabolism | Leukocytes, Mononuclear - metabolism | Epithelium - pathology | Pulmonary Alveoli - pathology | Pulmonary Fibrosis - complications | Fibrosis - complications | Humans | Risk Factors | In Situ Hybridization, Fluorescence | Tomography, X-Ray Computed | Pulmonary Fibrosis - genetics | Pulmonary Fibrosis - pathology | Case-Control Studies | RNA - genetics | Fibrosis - diagnostic imaging | Telomerase - genetics | Pulmonary Fibrosis - diagnostic imaging | Germ-Line Mutation | Family | Heterozygote | Telomere - metabolism | Fibrosis - pathology | Genetic aspects | Pulmonary fibrosis | Properties | Health aspects | Risk factors | Pneumonia | Epithelial cells | Lung | Lung diseases | Heredity | Leukocytes | Cirrhosis | Etiology | Mutation | telomerase reverse transcriptase | Alveoli | Age | Biological Sciences
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7. Full Text Rare variants in RTEL1 are associated with familial interstitial pneumonia
by Cogan, Joy D and Kropski, Jonathan A and Zhao, Min and Mitchell, Daphne B and Rives, Lynette and Markin, Cheryl and Garnett, Errine T and Montgomery, Keri H and Mason, Wendi R and McKean, David F and Powers, Julia and Murphy, Elissa and Olson, Lana M and Choi, Leena and Cheng, Dong-Sheng and Blue, Elizabeth Marchani and Young, Lisa R and Lancaster, Lisa H and Steele, Mark P and Brown, Kevin K and Schwarz, Marvin I and Fingerlin, Tasha E and Schwartz, David A and Lawson, William E and Loyd, James E and Zhao, Zhongming and Phillips, John A and Blackwell, Timothy S and University of Washington Center for Mendelian Genomics, of Washington Center for Mendelian Genomics and Univ Washington
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 03/2015, Volume 191, Issue 6, pp. 646 - 655
Rationale: Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP);... 
Genetics | Telomere | Idiopathic pulmonary fibrosis | telomere | MENDELIAN DISORDERS | idiopathic pulmonary fibrosis | genetics | RISK-FACTOR | GENE | RESPIRATORY SYSTEM | DYSKERATOSIS-CONGENITA | DISEASE | MUTATIONS | IDIOPATHIC PULMONARY-FIBROSIS | HELICASE | GENOME-WIDE ASSOCIATION | TELOMERE LENGTH | CRITICAL CARE MEDICINE | Lung - pathology | Lung Diseases, Interstitial - pathology | Humans | Middle Aged | Male | Genetic Variation | Lung Diseases, Interstitial - genetics | Pedigree | Aged, 80 and over | Female | Heterozygote | Aged | DNA Helicases - genetics | Telomere - genetics | Original
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8. Full Text The Y chromosome regulates BMPR2 expression via SRY: A possible reason "Why" fewer males develop pulmonary arterial hypertension
by Yan, Ling and Cogan, Joy D and Hedges, Lora K and Nunley, Bethany and Hamid, Rizwan and Austin, Eric D
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 12/2018, Volume 198, Issue 12, pp. 1581 - 1583
[...]estrogen receptor a binds to the BMPR2 promoter in Cos-7 cells, leading to decreased expression and signaling of BMPR-II, whereas female human pulmonary... 
RESPIRATORY SYSTEM | SOX | MOUSE | CRITICAL CARE MEDICINE | Transcription factors | Pathogenesis | Pulmonary arteries | Genomics | Smooth muscle | Gene expression | Males | Experiments | Pulmonary hypertension | Proteins | Fibroblasts | Protein expression | Mutation | Females | Chromosomes | Binding sites
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9. Full Text Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease
by Kropski, Jonathan A and Pritchett, Jason M and Zoz, Donald F and Crossno, Peter F and Markin, Cheryl and Garnett, Errine T and Degryse, Amber L and Mitchell, Daphne B and Polosukhin, Vasiliy V and Rickman, Otis B and Choi, Leena and Cheng, Dong-Sheng and McConaha, Melinda E and Jones, Brittany R and Gleaves, Linda A and McMahon, Frank B and Worrell, John A and Solus, Joseph F and Ware, Lorraine B and Lee, Jae Woo and Massion, Pierre P and Zaynagetdinov, Rinat and White, Eric S and Kurtis, Jonathan D and Johnson, Joyce E and Groshong, Steve D and Lancaster, Lisa H and Young, Lisa R and Steele, Mark P and Phillips, John A and Cogan, Joy D and Loyd, James E and Lawson, William E and Blackwell, Timothy S
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 02/2015, Volume 191, Issue 4, pp. 417 - 426
Rationale: Asymptomatic relatives of patients with familial interstitial pneumonia (FIP), the inherited form of idiopathic interstitial pneumonia, carry... 
Bronchoscopy | Alveolar epithelial cell | Biomarker | Telomere | IPF | MUC5B PROMOTER POLYMORPHISM | SURFACTANT PROTEIN-A | telomere | TRANSBRONCHIAL BIOPSY | ENDOPLASMIC-RETICULUM STRESS | biomarker | bronchoscopy | alveolar epithelial cell | BLOOD BIOMARKERS | PROVIDE CLUES | EPITHELIAL-CELLS | RESPIRATORY SYSTEM | MUTATION | HERPESVIRUS-INFECTION | IDIOPATHIC PULMONARY-FIBROSIS | CRITICAL CARE MEDICINE | Lung Diseases, Interstitial - metabolism | Prospective Studies | Mucin-5B - genetics | Humans | Middle Aged | Bronchoalveolar Lavage | DNA, Viral - analysis | Male | Tomography, X-Ray Computed | Lung - diagnostic imaging | Asymptomatic Diseases | Case-Control Studies | Lung Diseases, Interstitial - virology | Lung - virology | Lung Diseases, Interstitial - diagnosis | Herpesviridae - genetics | Adult | Female | Lung - metabolism | Biomarkers - metabolism | Herpesviridae - isolation & purification | Lung - pathology | Gene Frequency | Genetic Markers | Polymorphism, Genetic | Phenotype | Lung Diseases, Interstitial - genetics | Biopsy | Aged | Original
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10. Full Text The Presence of Cryptogenic Cirrhosis is Significantly Increased in Patients With Idiopathic Pulmonary Fibrosis but is Not Dependent on Telomerase Mutations
by Schneider, Natasha J and Lancaster, Lisa H and Cogan, Joy D and Perri, Roman
Gastroenterology, ISSN 0016-5085, 2011, Volume 140, Issue 5, pp. S-459 - S-459
Gastroenterology and Hepatology
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11. Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension
by James P Maloney and Robert S Stearman and Todd M Bull and David W Calabrese and Megan L Tripp-Addison and Marilee J Wick and Ulrich Broeckel and Ivan M Robbins and Lisa A Wheeler and Joy D Cogan and James E Loyd
American Journal of Physiology, ISSN 1040-0605, 03/2012, Volume 302, Issue 6, p. L541
Most patients with familial pulmonary arterial hypertension (FPAH) carry mutations in the bone morphogenic protein receptor 2 gene (BMPR2). Yet carriers have... 
Pulmonary arteries | Pathogenesis | Lung diseases | Homeostasis | Mutation | Thrombosis
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12. Full Text Genetic evaluation and testing of patients and families with idiopathic pulmonary fibrosis
by Kropski, Jonathan A and Young, Lisa R and Cogan, Joy D and Mitchell, Daphne B and Lancaster, Lisa H and Worrell, John A and Markin, Cheryl and Liu, Na and Mason, Wendi R and Fingerlin, Tasha E and Schwartz, David A and Lawson, William E and Blackwell, Timothy S and Phillips, John A and Loyd, James E
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 06/2017, Volume 195, Issue 11, pp. 1423 - 1428
Deleterious rare genetic variants (mutations) in 9 genes (telomerase reverse transcriptase [TERT], telomerase RNA component [hTR], dyskerin [DKC1], telomere... 
INTERSTITIAL LUNG-DISEASE | SURVIVAL | SURFACTANT PROTEIN-C | MUC5B PROMOTER POLYMORPHISM | VARIANTS | RESPIRATORY SYSTEM | DYSKERATOSIS-CONGENITA | MUTATIONS | PNEUMONIA | GENOME-WIDE ASSOCIATION | TELOMERE LENGTH | CRITICAL CARE MEDICINE | Idiopathic Pulmonary Fibrosis - genetics | Genetic Testing | Mutation | DNA Mutational Analysis | Humans | Pneumonia | Laboratories | Lung diseases | Critical care | Biology | Family medical history | Surfactants | Gene expression | Patients | Medicine | Proteins | Pulmonary fibrosis | Telomerase | Age | Pulmonary
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13. Full Text HACER: an atlas of human active enhancers to interpret regulatory variants
by Wang, Jing and Dai, Xizhen and Berry, Lynne D and Cogan, Joy D and Liu, Qi and Shyr, Yu
Nucleic Acids Research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D106 - D112
Abstract Recent studies have shown that disease-susceptibility variants frequently lie in cell-type-specific enhancer elements. To identify, interpret, and... 
TRANSCRIPTION FACTORS | SUPER-ENHANCERS | DATABASE | MYC | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL IDENTITY | ARCHITECTURE | EXPRESSION | BINDING | DISCOVERY | GENOME-WIDE ASSOCIATION | Database Issue
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14. Full Text Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension
by Newman, John H and Holt, Timothy N and Cogan, Joy D and Womack, Bethany and Phillips, John A and Li, Chun and Kendall, Zachary and Stenmark, Kurt R and Thomas, Milton G and Brown, R. Dale and Riddle, Suzette R and West, James D and Hamid, Rizwan
Nature Communications, ISSN 2041-1723, 04/2015, Volume 6, Issue 1, p. 6863
High-altitude pulmonary hypertension (HAPH) has heritable features and is a major cause of death in cattle in the Rocky Mountains, USA. Although multiple genes... 
GENE | ARTERIAL-PRESSURE | MULTIDISCIPLINARY SCIENCES | DISEASE | HIGHLANDERS | FUNCTION MUTATION | SELECTION | ERYTHROCYTOSIS | GAIN | HYPOXIA-INDUCIBLE FACTORS | Up-Regulation | Altitude Sickness - veterinary | Genetic Predisposition to Disease | Basic Helix-Loop-Helix Transcription Factors - genetics | Hypertension, Pulmonary - genetics | Male | Cattle Diseases - genetics | Genetic Variation | Animals | Cattle | Alleles | Altitude Sickness - genetics | Female | Hypertension, Pulmonary - veterinary
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15. Full Text Genome-wide association study of 58 individuals with fibrosing mediastinitis reveals possible underlying genetic susceptibility
by Richmond, Bradley W and Guo, Yan and Yu, Chang and Kendall, Peggy L and Mason, Wendi R and Cogan, Joy D and Loyd, James E
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 05/2018, Volume 197, Issue 9, pp. 1219 - 1220
[...]we performed a genome-wide association study in 58 individuals with FM recruited between 2010 and 2016 and compared it with 7,115 nondiseased controls... 
HISTOPLASMOSIS | SENSITIVITY | RESPIRATORY SYSTEM | CRITICAL CARE MEDICINE | Consortia | Web portals | Hispanic Americans | Infections | Genomes | Genetic testing | Gene expression | Minority & ethnic groups | Deoxyribonucleic acid--DNA | Correspondence
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