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Telomere and pulmonary fibrosis

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https://www.readbyqxmd.com/read/29116081/a-method-for-measuring-the-distribution-of-the-shortest-telomeres-in-cells-and-tissues
#1
Tsung-Po Lai, Ning Zhang, Jungsik Noh, Ilgen Mender, Enzo Tedone, Ejun Huang, Woodring E Wright, Gaudenz Danuser, Jerry W Shay
Improved methods to measure the shortest (not just average) telomere lengths (TLs) are needed. We developed Telomere Shortest Length Assay (TeSLA), a technique that detects telomeres from all chromosome ends from <1 kb to 18 kb using small amounts of input DNA. TeSLA improves the specificity and efficiency of TL measurements that is facilitated by user friendly image-processing software to automatically detect and annotate band sizes, calculate average TL, as well as the percent of the shortest telomeres...
November 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28991645/lung-diseases-of-the-elderly-cellular-mechanisms
#2
REVIEW
Kori Ascher, Sharon J Elliot, Gustavo A Rubio, Marilyn K Glassberg
Natural lung aging is characterized by molecular and cellular changes in multiple lung cell populations. These changes include shorter telomeres, increased expression of cellular senescence markers, increased DNA damage, oxidative stress, apoptosis, and stem cell exhaustion. Aging, combined with the loss of protective repair processes, correlates with the development and incidence of chronic respiratory diseases, including idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease. Ultimately, it is the interplay of age-related changes in biology and the subsequent responses to environmental exposures that largely define the physiology and clinical course of the aging lung...
November 2017: Clinics in Geriatric Medicine
https://www.readbyqxmd.com/read/28987319/mitochondria-telomeres-and-cell-senescence-implications-for-lung-ageing-and-disease
#3
REVIEW
Jodie Birch, Peter J Barnes, Joao F Passos
Cellular senescence, the irreversible loss of replicative capacity in somatic cells, plays a causal role in the development of age-related pathology and in a number of age-related chronic inflammatory diseases. The ageing lung is marked by an increasing number of senescent cells, and evidence is mounting that senescence may directly contribute to a number of age-related respiratory diseases, including chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF). Telomere dysfunction and alterations in mitochondrial homeostasis frequently occur in cellular senescence and are important to the development of the often detrimental senescence-associated secretory phenotype (SASP)...
October 4, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28983101/emerging-therapies-for-idiopathic-pulmonary-fibrosis-a-progressive-age-related-disease
#4
REVIEW
Ana L Mora, Mauricio Rojas, Annie Pardo, Moises Selman
Idiopathic pulmonary fibrosis (IPF) is a fatal age-associated disease that is characterized by progressive and irreversible scarring of the lung. The pathogenesis of IPF is not completely understood and current therapies are limited to those that reduce the rate of functional decline in patients with mild-to-moderate disease. In this context, new therapeutic approaches that substantially improve the survival time and quality of life of these patients are urgently needed. Our incomplete understanding of the pathogenic mechanisms of IPF and the lack of appropriate experimental models that reproduce the key characteristics of the human disease are major challenges...
November 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28953687/association-between-regulator-of-telomere-elongation-helicase1-rtel1-gene-and-hape-risk-a-case-control-study
#5
Hao Rong, Xue He, Linhao Zhu, Xikai Zhu, Longli Kang, Li Wang, Yongjun He, Dongya Yuan, Tianbo Jin
High altitude pulmonary edema (HAPE) is a paradigm of pulmonary edema. Mutations in regulator of telomere elongation helicase1 (RTEL1) represent an important contributor to risk for pulmonary fibrosis. However, little information is found about the association between RTEL1 and HAPE risk. The present study was undertaken to tentatively explore the potential relation between single-nucleotide polymorphisms (SNPs) in RTEL1 and HAPE risk in Chinese Han population. A total of 265 HAPE patients and 303 healthy controls were included in our case-control study...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28923296/malignant-transformation-of-oral-leukoplakia-in-a-patient-with-dyskeratosis-congenita
#6
Michelle Bongiorno, Shayna Rivard, Daniel Hammer, Joshua Kentosh
Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features, including bone marrow failure, pulmonary fibrosis, and liver disease, are also common. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome, acute myeloid leukemia, head and neck squamous cell carcinoma, and anogenital cancer...
August 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28918867/telomere-shortening-in-idiopathic-pulmonary-fibrosis
#7
María Molina-Molina, Lurdes Planas-Cerezales, Rosario Perona
No abstract text is available yet for this article.
September 14, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28860144/ipf-lung-fibroblasts-have-a-senescent-phenotype
#8
Diana Alvarez, Nayra Cardenes, Jacobo Sellares, Marta Bueno, Catherine Corey, Vidya Sagar Hanumanthu, Yating Peng, Hannah D'Cuhna, John Sembrat, Mehdi Nouraie, Swaroop Shanker, Chandler Caufield, Sruti Shiva, Mary Armanios, Ana L Mora, Mauricio Rojas
The mechanisms of aging that are involved in the development of idiopathic pulmonary fibrosis (IPF) are still unclear. Although it has been hypothesized that the proliferation and activation of human lung fibroblasts (hLF) are essential in IPF, no studies have assessed how this process works in an aging lung. Our goal was to elucidate if there were age-related changes on primary hLF isolated from IPF lungs compared to age-matched controls. We investigated several hallmarks of aging in hLF from IPF patients and age-matched controls...
August 31, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28665198/whole-exome-sequencing-insights-into-adult-pulmonary-fibrosis-repeating-the-telomere-theme
#9
Christine Kim Garcia
No abstract text is available yet for this article.
July 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28648751/the-muc5b-promoter-polymorphism-and-telomere-length-in-patients-with-chronic-hypersensitivity-pneumonitis-an-observational-cohort-control-study
#10
Brett Ley, Chad A Newton, Isabel Arnould, Brett M Elicker, Travis S Henry, Eric Vittinghoff, Jeffrey A Golden, Kirk D Jones, Kiran Batra, Jose Torrealba, Christine Kim Garcia, Paul J Wolters
BACKGROUND: Patients with hypersensitivity pneumonitis are at risk of developing pulmonary fibrosis, which is associated with reduced survival. In families with multiple affected members, individuals might be diagnosed as having idiopathic pulmonary fibrosis (IPF) or chronic (fibrotic) hypersensitivity pneumonitis, which suggests these disorders share risk factors. We aimed to test whether the genomic risk factors associated with the development and progression of IPF are also associated with the development of fibrosis and reduced survival in people with chronic hypersensitivity pneumonitis...
August 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#11
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#12
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28495692/shared-genetic-predisposition-in-rheumatoid-arthritis-interstitial-lung-disease-and-familial-pulmonary-fibrosis
#13
Pierre-Antoine Juge, Raphaël Borie, Caroline Kannengiesser, Steven Gazal, Patrick Revy, Lidwine Wemeau-Stervinou, Marie-Pierre Debray, Sébastien Ottaviani, Sylvain Marchand-Adam, Nadia Nathan, Gabriel Thabut, Christophe Richez, Hilario Nunes, Isabelle Callebaut, Aurélien Justet, Nicolas Leulliot, Amélie Bonnefond, David Salgado, Pascal Richette, Jean-Pierre Desvignes, Huguette Lioté, Philippe Froguel, Yannick Allanore, Olivier Sand, Claire Dromer, René-Marc Flipo, Annick Clément, Christophe Béroud, Jean Sibilia, Baptiste Coustet, Vincent Cottin, Marie-Christophe Boissier, Benoit Wallaert, Thierry Schaeverbeke, Florence Dastot le Moal, Aline Frazier, Christelle Ménard, Martin Soubrier, Nathalie Saidenberg, Dominique Valeyre, Serge Amselem, Catherine Boileau, Bruno Crestani, Philippe Dieudé
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF) and RA-ILD frequently share the usual pattern of interstitial pneumonia and common environmental risk factors, we hypothesised that the two diseases might share additional risk factors, including FPF-linked genes. Our aim was to identify coding mutations of FPF-risk genes associated with RA-ILD.We used whole exome sequencing (WES), followed by restricted analysis of a discrete number of FPF-linked genes and performed a burden test to assess the excess number of mutations in RA-ILD patients compared to controls...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28446600/management-of-suspected-monogenic-lung-fibrosis-in-a-specialised-centre
#14
Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression...
June 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28431248/spontaneous-chitin-accumulation-in-airways-and-age-related-fibrotic-lung-disease
#15
Steven J Van Dyken, Hong-Erh Liang, Ram P Naikawadi, Prescott G Woodruff, Paul J Wolters, David J Erle, Richard M Locksley
The environmentally widespread polysaccharide chitin is degraded and recycled by ubiquitous bacterial and fungal chitinases. Although vertebrates express active chitinases from evolutionarily conserved loci, their role in mammalian physiology is unclear. We show that distinct lung epithelial cells secrete acidic mammalian chitinase (AMCase), which is required for airway chitinase activity. AMCase-deficient mice exhibit premature morbidity and mortality, concomitant with accumulation of environmentally derived chitin polymers in the airways and expression of pro-fibrotic cytokines...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28318743/broadening-the-investigation-short-telomeres-and-lung-transplantation-outcomes-in-pulmonary-fibrosis
#16
EDITORIAL
Andrew Courtwright, Souheil El-Chemaly
No abstract text is available yet for this article.
February 28, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28289249/control-of-cellular-aging-tissue-function-and-cancer-by-p53-downstream-of-telomeres
#17
REVIEW
Caitlin M Roake, Steven E Artandi
Telomeres, the nucleoprotein complex at the ends of eukaryotic chromosomes, perform an essential cellular role in part by preventing the chromosomal end from initiating a DNA-damage response. This function of telomeres can be compromised as telomeres erode either as a consequence of cell division in culture or as a normal part of cellular ageing in proliferative tissues. Telomere dysfunction in this context leads to DNA-damage signaling and activation of the tumor-suppressor protein p53, which then can prompt either cellular senescence or apoptosis...
May 1, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28262440/telomere-length-in-patients-with-pulmonary-fibrosis-associated-with-chronic-lung-allograft-dysfunction-and-post-lung-transplantation-survival
#18
Chad A Newton, Julia Kozlitina, Jefferson R Lines, Vaidehi Kaza, Fernando Torres, Christine Kim Garcia
BACKGROUND: Prior studies have shown that patients with pulmonary fibrosis with mutations in the telomerase genes have a high rate of certain complications after lung transplantation. However, few studies have investigated clinical outcomes based on leukocyte telomere length. METHODS: We conducted an observational cohort study of all patients with pulmonary fibrosis who underwent lung transplantation at a single center between January 1, 2007, and December 31, 2014...
August 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28254828/telomere-driven-diseases-and-telomere-targeting-therapies
#19
REVIEW
Paula Martínez, Maria A Blasco
Telomeres, the protective ends of linear chromosomes, shorten throughout an individual's lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short telomeres block the proliferative capacity of stem cells, affecting their potential to regenerate tissues, and trigger the development of age-associated diseases. Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and liver fibrosis...
April 3, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28192371/somatic-mutations-in-telomerase-promoter-counterbalance-germline-loss-of-function-mutations
#20
Lindley Maryoung, Yangbo Yue, Ashley Young, Chad A Newton, Cindy Barba, Nicolai S C van Oers, Richard C Wang, Christine Kim Garcia
Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs. Here, we describe the somatic acquisition of promoter mutations in telomerase reverse transcriptase (TERT) in blood leukocytes of approximately 5% of individuals with inherited loss-of-function coding mutations in TERT or poly(A)-specific ribonuclease (PARN), another gene linked to telomerase function...
March 1, 2017: Journal of Clinical Investigation
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