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https://www.readbyqxmd.com/read/29343314/cell-free-dna-the-role-in-pathophysiology-and-as-a-biomarker-in-kidney-diseases
#1
Peter Celec, Barbora Vlková, Lucia Lauková, Janka Bábíčková, Peter Boor
Cell-free DNA (cfDNA) is present in various body fluids and originates mostly from blood cells. In specific conditions, circulating cfDNA might be derived from tumours, donor organs after transplantation or from the foetus during pregnancy. The analysis of cfDNA is mainly used for genetic analyses of the source tissue -tumour, foetus or for the early detection of graft rejection. It might serve also as a nonspecific biomarker of tissue damage in critical care medicine. In kidney diseases, cfDNA increases during haemodialysis and indicates cell damage...
January 18, 2018: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/29341216/primary-scarring-alopecia-a-retrospective-study-of-89-patients-in-taiwan
#2
Hsing-Jou Su, An-Yu Cheng, Cheng-Han Liu, Chia-Bau Chu, Chaw-Ning Lee, Chao-Kai Hsu, Julia Yu-Yun Lee, Chao-Chun Yang
Primary scarring alopecia (PSA) is caused by irreversible damage to the hair epithelial stem cells that reside in hair follicles. There is limited published work regarding PSA amongst the Asian population. The aim of this study was to evaluate the clinical features and to characterize the subtypes of PSA in southern Taiwan. In this retrospective case series, we reviewed 89 patients with pathology-confirmed PSA. The data was collected from National Cheng Kung University Hospital between 1988 through 2016. The clinical and histological data were reviewed, and the patients were characterized into different subtypes of PSA based on the clinical features and histological findings...
January 16, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29329127/cutis-laxa-acquisita-after-urticarial-vasculitis-in-sle-patients
#3
Kimberly B Golisch, Silvija P Gottesman, Patricia Ferrer, Keliegh S Culpepper
Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been linked to cutis laxa acquisita...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29328507/genetics-of-immune-mediated-inflammatory-diseases
#4
REVIEW
Trixy David, Stephanie Ling, Anne Barton
Immune-mediated inflammatory diseases (IMIDs) are characterised by dysregulation of the normal immune response, which leads to inflammation. Together, they account for a high disease burden in the population, given that they are usually chronic conditions with associated co-morbidities. Examples include systemic lupus erythematosus, rheumatoid arthritis, Crohn's disease and type 1 diabetes. Since the advent of genome-wide association studies, evidence of considerable genetic overlap in the loci predisposing to a wide range of IMIDs has emerged...
January 12, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29317407/a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease
#5
Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
OBJECTIVES: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms. RESULTS: A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included...
January 9, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29312536/the-shared-and-specific-mechanism-of-four-autoimmune-diseases
#6
Meiwei Luan, Zhenwei Shang, Yanbo Teng, Xinren Chen, Mingming Zhang, Hongchao Lv, Ruijie Zhang
Interaction between genetic and epigenetic mechanisms may lead to autoimmune diseases. The features of these diseases show familial aggregation. The generality and specificity are keys to studying pathogenesis and etiology of them. This research integrated data of genetics and epigenetics, to find disease-related genes based on the levels of expression and regulation, and explored then to the shared and specific mechanism of them by analyzing shared and specific pathways of common four autoimmune diseases, including Type 1 Diabetes Mellitus (T1D), Multiple Sclerosis (MS), Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE)...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29298134/the-synergistic-effect-of-tnfa-and-il10-promoter-polymorphisms-on-genetic-predisposition-to-systemic-lupus-erythematosus
#7
Irena Manolova, Lyuba Miteva, Mariana Ivanova, Todor Kundurzhiev, Rumen Stoilov, Spaska Stanilova
AIMS: We investigated the individual and combined effect of functional TNFA -308G/A and IL10 -1082G/A single nucleotide polymorphisms (SNPs) and their genotypes on the susceptibility to systemic lupus erythematosus (SLE) in a Bulgarian population. MATERIALS AND METHODS: Genotyping for -1082A/G IL10 (rs1800896) and -308G/A TNFA (rs1800629) polymorphisms was performed for 154 SLE patients and 224 healthy controls. RESULTS: An association between SLE and the rs1800629 polymorphism was established under the allelic model (allele A vs...
January 3, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29276866/association-of-stat4-gene-single-nucleotide-polymorphisms-with-iranian-juvenile-onset-systemic-lupus-erythematosus-patients
#8
Arash Salmaninejad, Mahdi Mahmoudi, Saeed Aslani, Shiva Poursani, Vahid Ziaee, Nima Rezaei
Salmaninejad A, Mahmoudi M, Aslani S, Poursani S, Ziaee V, Rezaei N. Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients. Turk J Pediatr 2017; 59: 144-149. Juvenile-onset systemic lupus erythematosus (JSLE) is a complex autoimmune disease, characterized by multi-organ involvement. Single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT4) gene have been reported to have relationship with the risk of several autoimmune diseases...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29258497/non-invasive-genetic-monitoring-involving-citizen-science-enables-reconstruction-of-current-pack-dynamics-in-a-re-establishing-wolf-population
#9
Hanna Granroth-Wilding, Craig Primmer, Meri Lindqvist, Jenni Poutanen, Olaf Thalmann, Jouni Aspi, Jenni Harmoinen, Ilpo Kojola, Toni Laaksonen
BACKGROUND: Carnivores are re-establishing in many human-populated areas, where their presence is often contentious. Reaching consensus on management decisions is often hampered by a dispute over the size of the local carnivore population. Understanding the reproductive dynamics and individual movements of the carnivores can provide support for management decisions, but individual-level information can be difficult to obtain from elusive, wide-ranging species. Non-invasive genetic sampling can yield such information, but makes subsequent reconstruction of population history challenging due to incomplete population coverage and error-prone data...
December 19, 2017: BMC Ecology
https://www.readbyqxmd.com/read/29251774/altered-toll-like-receptor-responsiveness-underlies-a-dominant-heritable-defect-in-b-cell-tolerance-in-autoimmune-new-zealand-black-mice
#10
Amy G Clark, Elizabeth S Buckley, Mary H Foster
Systemic lupus erythematosus is a debilitating autoimmune disease in which autoantibodies and autoreactive T cells destroy kidneys and other organs. Disease is clinically and genetically heterogeneous, suggesting that underlying mechanisms vary between patients. We previously used an autoantibody transgenic mouse reporter system to examine the effect of different autoimmune backgrounds on B-cell tolerance, failure of which is a fundamental defect in lupus. We identified a defect consistent with reversible anergy induced by endotoxin stimulation of B cells from Ig transgenic New Zealand Black (NZB) mice...
December 18, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29245125/delayed-type-hypersensitivity-to-metals-in-connective-tissue-diseases-and-fibromyalgia
#11
REVIEW
Geir Bjørklund, Maryam Dadar, Jan Aaseth
Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. A detailed metal exposure history was collected by different evaluation of studies...
December 12, 2017: Environmental Research
https://www.readbyqxmd.com/read/29233832/exome-wide-association-study-identifies-four-novel-loci-for-systemic-lupus-erythematosus-in-han-chinese-population
#12
Leilei Wen, Caihong Zhu, Zhengwei Zhu, Chao Yang, Xiaodong Zheng, Lu Liu, Xianbo Zuo, Yujun Sheng, Huayang Tang, Bo Liang, Yi Zhou, Pan Li, Jun Zhu, Yantao Ding, Gang Chen, Jinping Gao, Lili Tang, Yuyan Cheng, Jingying Sun, Tamilselvi Elango, Anjana Kafle, Ruixing Yu, Ke Xue, Yaohua Zhang, Feng Li, Zhanguo Li, Jianping Guo, Xuan Zhang, Chen Zhou, Yuanjia Tang, Nan Shen, Meng Wang, Xueqing Yu, Shengxiu Liu, Xing Fan, Min Gao, Fengli Xiao, Peiguang Wang, Zaixing Wang, Anping Zhang, Fusheng Zhou, Liangdan Sun, Sen Yang, Jinhua Xu, Xianyong Yin, Yong Cui, Xuejun Zhang
OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences. The contributions of coding variants have not yet been systematically evaluated. METHODS: We performed a large-scale exome-wide study in 5004 SLE cases and 8179 healthy controls in a Han Chinese population using a custom exome array, and then genotyped 32 variants with suggestive evidence in an independent cohort of 13 246 samples...
December 12, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29230954/association-between-vitamin-d-receptor-polymorphisms-and-systemic-lupus-erythematosus-in-an-indian-cohort
#13
Harishankar Mahto, Rina Tripathy, Bidyut K Das, Aditya K Panda
AIM: Systemic lupus erythematosus (SLE) is an autoimmune disorder with various clinical manifestations. Susceptibility to development of SLE has been linked to several factors, such as genetic, environmental and hormonal. Vitamin D appears to have a regulatory role on disease manifestation and activity. Vitamin D exerts its effect through vitamin D receptors (VDR). Several studies have demonstrated an association between VDR polymorphisms and susceptibility to SLE in different populations, although the results are still inconclusive...
December 12, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29227470/multiplexed-droplet-single-cell-rna-sequencing-using-natural-genetic-variation
#14
Hyun Min Kang, Meena Subramaniam, Sasha Targ, Michelle Nguyen, Lenka Maliskova, Elizabeth McCarthy, Eunice Wan, Simon Wong, Lauren Byrnes, Cristina M Lanata, Rachel E Gate, Sara Mostafavi, Alexander Marson, Noah Zaitlen, Lindsey A Criswell, Chun Jimmie Ye
Droplet single-cell RNA-sequencing (dscRNA-seq) has enabled rapid, massively parallel profiling of transcriptomes. However, assessing differential expression across multiple individuals has been hampered by inefficient sample processing and technical batch effects. Here we describe a computational tool, demuxlet, that harnesses natural genetic variation to determine the sample identity of each droplet containing a single cell (singlet) and detect droplets containing two cells (doublets). These capabilities enable multiplexed dscRNA-seq experiments in which cells from unrelated individuals are pooled and captured at higher throughput than in standard workflows...
December 11, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/29224681/role-of-interferons-in-sle
#15
REVIEW
Anders A Bengtsson, Lars Rönnblom
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that affects many different organ systems, with excessive production of type I interferons (IFNs) and autoantibodies against nucleic acids as hallmarks. Activation of the type I IFN system in SLE is due to continuous stimulation of plasmacytoid dendritic cells by endogenous nucleic acids, leading to sustained type I IFN production. This is reflected by an overexpression of type I IFN-regulated genes or an IFN signature. Type I IFNs have effects on both the innate and adaptive immune systems, which contribute to both loss of tolerance and the autoimmune disease process...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29224679/a-review-on-sle-and-malignancy
#16
REVIEW
May Y Choi, Kelsey Flood, Sasha Bernatsky, Rosalind Ramsey-Goldman, Ann E Clarke
Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disease characterized by autoantibody production, complement activation, and immune complex deposition. It predominantly affects young and middle-aged women. While improvements in the diagnosis and treatment of SLE have altered prognosis, morbidity and mortality rates remain higher than the general population. In addition to renal injury, cardiovascular disease, and infection, malignancy is known to be a significant cause of death in this population...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29224673/understanding-the-role-of-environmental-factors-in-the-development-of-systemic-lupus-erythematosus
#17
REVIEW
Christine G Parks, Aline de Souza Espindola Santos, Medha Barbhaiya, Karen H Costenbader
Systemic lupus erythematosus (SLE) is a multisystem disease with a complex etiology. Its risk is higher among women, racial and ethnic minorities, and individuals with a family history of SLE or related autoimmune diseases. It is believed that genetic factors interact with environmental exposures throughout the lifespan to influence susceptibility to developing SLE. The strongest epidemiologic evidence exists for increased risk of SLE associated with exposure to crystalline silica, current cigarette smoking, use of oral contraceptives, and postmenopausal hormone replacement therapy, while there is an inverse association with alcohol use...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29219063/an-insight-on-the-pathogenesis-and-treatment-of-systemic-lupus-erythematosus
#18
Murtaza Ali, Chelapram K Firoz, Nasimudeen R Jabir, Mohd Rehan, Mohd Shahnawaz Khan, Shams Tabrez
BACKGROUND AND OBJECTIVE: Systemic lupus erythematosus (SLE) is a diverse autoimmune disorder, evoked in response to self-immune system that leads to immune complex depositions and organ damage. The exact mechanism of SLE pathogenesis is still unclear but certain genetic and environmental factors have been suggested in the literature that could influence its pathogenesis. The modulation in B- and T- cell responses and genetic variations could lead to abnormal lymphocyte functions and the production of antibodies against the indigenous proteins and the immune complex depositions...
December 7, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29214033/lupus-related-single-nucleotide-polymorphisms-and-risk-of-diffuse-large-b-cell-lymphoma
#19
Sasha Bernatsky, Héctor A Velásquez García, John J Spinelli, Patrick Gaffney, Karin E Smedby, Rosalind Ramsey-Goldman, Sophia S Wang, Hans-Olov Adami, Demetrius Albanes, Emanuele Angelucci, Stephen M Ansell, Yan W Asmann, Nikolaus Becker, Yolanda Benavente, Sonja I Berndt, Kimberly A Bertrand, Brenda M Birmann, Heiner Boeing, Paolo Boffetta, Paige M Bracci, Paul Brennan, Angela R Brooks-Wilson, James R Cerhan, Stephen J Chanock, Jacqueline Clavel, Lucia Conde, Karen H Cotenbader, David G Cox, Wendy Cozen, Simon Crouch, Anneclaire J De Roos, Silvia de Sanjose, Simonetta Di Lollo, W Ryan Diver, Ahmet Dogan, Lenka Foretova, Hervé Ghesquières, Graham G Giles, Bengt Glimelius, Thomas M Habermann, Corinne Haioun, Patricia Hartge, Henrik Hjalgrim, Theodore R Holford, Elizabeth A Holly, Rebecca D Jackson, Rudolph Kaaks, Eleanor Kane, Rachel S Kelly, Robert J Klein, Peter Kraft, Anne Kricker, Qing Lan, Charles Lawrence, Mark Liebow, Tracy Lightfoot, Brian K Link, Marc Maynadie, James McKay, Mads Melbye, Thierry J Molina, Alain Monnereau, Lindsay M Morton, Alexandra Nieters, Kari E North, Anne J Novak, Kenneth Offit, Mark P Purdue, Marco Rais, Jacques Riby, Eve Roman, Nathaniel Rothman, Gilles Salles, Gianluca Severi, Richard K Severson, Christine F Skibola, Susan L Slager, Alex Smith, Martyn T Smith, Melissa C Southey, Anthony Staines, Lauren R Teras, Carrie A Thompson, Hervé Tilly, Lesley F Tinker, Anne Tjonneland, Jenny Turner, Claire M Vajdic, Roel C H Vermeulen, Joseph Vijai, Paolo Vineis, Jarmo Virtamo, Zhaoming Wang, Stephanie Weinstein, Thomas E Witzig, Andrew Zelenetz, Anne Zeleniuch-Jacquotte, Yawei Zhang, Tongzhang Zheng, Mariagrazia Zucca, Ann E Clarke
Objective: Determinants of the increased risk of diffuse large B-cell lymphoma (DLBCL) in SLE are unclear. Using data from a recent lymphoma genome-wide association study (GWAS), we assessed whether certain lupus-related single nucleotide polymorphisms (SNPs) were also associated with DLBCL. Methods: GWAS data on European Caucasians from the International Lymphoma Epidemiology Consortium (InterLymph) provided a total of 3857 DLBCL cases and 7666 general-population controls...
2017: Lupus Science & Medicine
https://www.readbyqxmd.com/read/29213152/serological-and-molecular-analysis-of-parvovirus-b19-infection-in-mayan-women-with-systemic-lupus-erythematosus-in-mexico
#20
Guillermo Valencia Pacheco, Yumi E Nakazawa Ueji, Edwin A Rodríguez Dzul, Angélica V Angulo Ramírez, Ricardo F López Villanueva, Irma G Quintal Ortiz, Elsy P Rosado Paredes
Background: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that mainly affects women, characterized by the production of autoantibodies. Its causal agent is unknown, but the combination of environmental, hormonal and genetic factors may favor the development of the disease. Parvovirus B19 has been associated with the development of SLE, since it induces the production of anti-single stranded DNA antibodies. It is unknown whether PV-B19 infection is an environmental factor that trigger or reactivate SLE in the Mexican Mayan population...
September 30, 2017: Colombia Médica: CM
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