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JOURNAL ARTICLE
Marianne Lerche, Christina A Eichstaedt, Katrin Hinderhofer, Ekkehard Grünig, Kristin Tausche, Tjalf Ziemssen, Michael Halank, Hubert Wirtz, Hans-Jürgen Seyfarth
Based on a small number of cases, interferon beta (IFN-β) has been added to the list of drugs that might induce pulmonary arterial hypertension (PAH) in the current European guidelines for the diagnosis and treatment of pulmonary hypertension. Here, we propose that multiple sclerosis patients who are genetically predisposed to PAH may be at higher risk to develop disease when treated with IFN-β. We included two patients with multiple sclerosis who developed a manifest PAH after five amd eight years on IFN-β 1a therapy, respectively (without confirmed right heart catheterization)...
July 2019: Pulmonary Circulation
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JOURNAL ARTICLE
Chiara Barozzi, Margherita Galletti, Luciana Tomasi, Sara De Fanti, Massimiliano Palazzini, Alessandra Manes, Marco Sazzini, Nazzareno Galiè
The pathogenesis of idiopathic and heritable forms of pulmonary arterial hypertension is still not completely understood, even though several causative genes have been proposed, so that a third of patients remains genetically unresolved. Here we applied a multistep approach to extend identification of the genetic bases of such a disease by searching for novel candidate genes/pathways. Twenty-eight patients belonging to 18 families were screened for BMPR2 mutations and BMPR2-negative samples were tested for 12 additional candidate genes by means of a specific massive parallel sequencing-based assay...
January 24, 2019: Scientific Reports
#23
JOURNAL ARTICLE
Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M Salmon, Mark Southwood, Rajiv D Machado, Jennifer M Martin, Carmen M Treacy, Katherine Yates, Louise C Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J Simon R Gibbs, Barbara Girerd, Arjan C Houweling, Luke Howard, Marc Humbert, David G Kiely, Gabor Kovacs, Robert V MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F Stein, Jay Suntharalingam, Emilia M Swietlik, Mark R Toshner, David A van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J Wort, Willem H Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D Upton, Martin R Wilkins, Richard C Trembath, Nicholas W Morrell
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify the missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in PAH...
April 12, 2018: Nature Communications
#24
JOURNAL ARTICLE
Mohammad Atikuzzaman, Manuel Alvarez-Rodriguez, Alejandro Vicente-Carrillo, Martin Johnsson, Dominic Wright, Heriberto Rodriguez-Martinez
BACKGROUND: Spermatozoa are stored in the oviductal functional sperm reservoir in animals with internal fertilization, including zoologically distant classes such as pigs or poultry. They are held fertile in the reservoir for times ranging from a couple of days (in pigs), to several weeks (in chickens), before they are gradually released to fertilize the newly ovulated eggs. It is currently unknown whether females from these species share conserved mechanisms to tolerate such a lengthy presence of immunologically-foreign spermatozoa...
January 18, 2017: BMC Genomics
#25
JOURNAL ARTICLE
Meenu Madan, Arjun Patel, Kristen Skruber, Dirk Geerts, Deborah A Altomare, Otto Phanstiel Iv
The purpose of this paper was to better understand the role of polyamine transport in pancreatic cancers.This paper identifies potential biomarkers for assessing the relative tumor commitment to polyamine biosynthesis or transport. Cell lines with low polyamine import activity and low ATP13A3 protein levels appear committed to polyamine biosynthesis and required high concentrations of the polyamine biosynthesis inhibitor, difluoromethylornithine (DFMO) to inhibit their growth (e.g., AsPC-1 and Capan 1). In contrast, cell lines with high polyamine import activity and high ATP13A3 protein expression (e...
2016: American Journal of Cancer Research
#26
JOURNAL ARTICLE
Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, Laura Bernardini, Sara Loddo, Katia Margiotti, Maria Cristina Digilio, Maria Teresa Fadda, Bruno Dallapiccola, Giorgio Iannetti, De Luca Alessandro
Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia...
April 2015: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Mariska Bierkens, Oscar Krijgsman, Saskia M Wilting, Leontien Bosch, Annelieke Jaspers, Gerrit A Meijer, Chris J L M Meijer, Peter J F Snijders, Bauke Ylstra, Renske D M Steenbergen
Cervical cancer results from persistent infection with high-risk human papillomavirus (hrHPV). Common genetic aberrations in cervical (pre)cancers encompass large genomic regions with numerous genes, hampering identification of driver genes. This study aimed to identify genes functionally involved in HPV-mediated transformation by analysis of focal aberrations (<3 Mb) in high-grade cervical intraepithelial neoplasia (hgCIN). Focal chromosomal aberrations were determined in high-resolution array comparative genomic hybridization data of 60 hgCIN...
January 2013: Genes, Chromosomes & Cancer
#28
JOURNAL ARTICLE
Lisa S Weingarten, Hardi Dave, Hongyan Li, Dorota A Crawford
P(5) ATPases (ATP13A1 through ATP13A5) are found in all eukaryotes. They are currently poorly characterized and have unknown substrate specificity. Recent evidence has linked two P(5) ATPases to diseases of the nervous system, suggesting possible importance of these proteins within the nervous system. In this study we determined the relative expression of mouse P5 ATPases in development using quantitative real time PCR. We have shown that ATP13A1 and ATP13A2 were both expressed similarly during development, with the highest expression levels at the peak of neurogenesis...
March 2012: Cellular & Molecular Biology Letters
#29
COMPARATIVE STUDY
Patrick J Schultheis, Tamara T Hagen, Kate K O'Toole, Akiko Tachibana, Charles R Burke, Diana L McGill, Gbolahan W Okunade, Gary E Shull
In mammals, the most poorly understood P-type ATPases are those of the P(5) subfamily. To begin characterization of the mammalian P(5)-ATPases, BLAST searches of DNA sequence databases were performed. Five genes were identified in the mouse, human, dog, and rat genomes, and the coding sequences of the mouse genes, termed Atp13a1-Atp13a5, were determined. The intron/exon organization of Atp13a1 differs entirely from those of Atp13a2-5, which are closely related. Amino acid sequence comparisons between the five mouse and two yeast P(5)-ATPases suggest that Atp13a1 is orthologous to the yeast Cod1 gene and that Atp13a2-5 are orthologous to yeast Yor291w...
October 22, 2004: Biochemical and Biophysical Research Communications
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