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https://www.readbyqxmd.com/read/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#1
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28714469/transancestral-mapping-and-genetic-load-in-systemic-lupus-erythematosus
#2
Carl D Langefeld, Hannah C Ainsworth, Deborah S Cunninghame Graham, Jennifer A Kelly, Mary E Comeau, Miranda C Marion, Timothy D Howard, Paula S Ramos, Jennifer A Croker, David L Morris, Johanna K Sandling, Jonas Carlsson Almlöf, Eduardo M Acevedo-Vásquez, Graciela S Alarcón, Alejandra M Babini, Vicente Baca, Anders A Bengtsson, Guillermo A Berbotto, Marc Bijl, Elizabeth E Brown, Hermine I Brunner, Mario H Cardiel, Luis Catoggio, Ricard Cervera, Jorge M Cucho-Venegas, Solbritt Rantapää Dahlqvist, Sandra D'Alfonso, Berta Martins Da Silva, Iñigo de la Rúa Figueroa, Andrea Doria, Jeffrey C Edberg, Emőke Endreffy, Jorge A Esquivel-Valerio, Paul R Fortin, Barry I Freedman, Johan Frostegård, Mercedes A García, Ignacio García de la Torre, Gary S Gilkeson, Dafna D Gladman, Iva Gunnarsson, Joel M Guthridge, Jennifer L Huggins, Judith A James, Cees G M Kallenberg, Diane L Kamen, David R Karp, Kenneth M Kaufman, Leah C Kottyan, László Kovács, Helle Laustrup, Bernard R Lauwerys, Quan-Zhen Li, Marco A Maradiaga-Ceceña, Javier Martín, Joseph M McCune, David R McWilliams, Joan T Merrill, Pedro Miranda, José F Moctezuma, Swapan K Nath, Timothy B Niewold, Lorena Orozco, Norberto Ortego-Centeno, Michelle Petri, Christian A Pineau, Bernardo A Pons-Estel, Janet Pope, Prithvi Raj, Rosalind Ramsey-Goldman, John D Reveille, Laurie P Russell, José M Sabio, Carlos A Aguilar-Salinas, Hugo R Scherbarth, Raffaella Scorza, Michael F Seldin, Christopher Sjöwall, Elisabet Svenungsson, Susan D Thompson, Sergio M A Toloza, Lennart Truedsson, Teresa Tusié-Luna, Carlos Vasconcelos, Luis M Vilá, Daniel J Wallace, Michael H Weisman, Joan E Wither, Tushar Bhangale, Jorge R Oksenberg, John D Rioux, Peter K Gregersen, Ann-Christine Syvänen, Lars Rönnblom, Lindsey A Criswell, Chaim O Jacob, Kathy L Sivils, Betty P Tsao, Laura E Schanberg, Timothy W Behrens, Earl D Silverman, Marta E Alarcón-Riquelme, Robert P Kimberly, John B Harley, Edward K Wakeland, Robert R Graham, Patrick M Gaffney, Timothy J Vyse
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect...
July 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28711143/genomics-of-systemic-lupus-erythematosus-insights-gained-by-studying-monogenic-young-onset-systemic-lupus-erythematosus
#3
REVIEW
Linda T Hiraki, Earl D Silverman
Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28702755/the-influence-of-breed-and-environmental-factors-on-social-and-solitary-play-in-dogs-canis-lupus-familiaris
#4
Lindsay R Mehrkam, Nathaniel J Hall, Chelsea Haitz, Clive D L Wynne
The domestic dog is an ideal model species in which to study the genetic and environmental factors that influence play behavior. Dogs exist in a wide variety of breeds and frequently engage in multiple forms of play. In the present study, we investigated whether the levels of solitary and social play differed between dogs of three breed types with distinct predatory motor pattern sequences (herding dogs, retrievers, and livestock guarding dogs [LGDs]). Furthermore, we investigated how environmental factors (social and nonsocial contexts) influenced play in dogs of these breed types...
July 12, 2017: Learning & Behavior
https://www.readbyqxmd.com/read/28696253/the-ox40-ox40-ligand-pathway-promotes-pathogenic-th-cell-responses-plasmablast-accumulation-and-lupus-nephritis-in-nzb-w-f1-mice
#5
Jonathan Sitrin, Eric Suto, Arthur Wuster, Jeffrey Eastham-Anderson, Jeong M Kim, Cary D Austin, Wyne P Lee, Timothy W Behrens
Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for systemic lupus erythematosus (SLE); however, it is unclear how Ox40L contributes to SLE pathogenesis. In this study, we evaluated the contribution of Ox40L and its cognate receptor, Ox40, using in vivo agonist and antagonist approaches in the NZB × NZW (NZB/W) F1 mouse model of SLE. Ox40 was highly expressed on several CD4 Th cell subsets in the spleen and kidney of diseased mice, and expression correlated with disease severity. Treatment of aged NZB/W F1 mice with agonist anti-Ox40 mAbs potently exacerbated renal disease, which was accompanied by activation of kidney-infiltrating T cells and cytokine production...
July 10, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28692793/rare-x-chromosome-abnormalities-in-systemic-lupus-erythematosus-and-sj%C3%A3-gren-s-syndrome
#6
Rohan Sharma, Valerie M Harris, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Anum Fayaaz, Kaustubh S Chaudhari, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcon-Riquelme, Xavier Mariette, Christopher J Lessard, John B Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L Sivils, R Hal Scofield
BACKGROUND: Sjögren's syndrome and systemic lupus erythematosus (SLE) are related by clinical and serological manifestations as well as genetic risks. Both diseases are more commonly found in women compared to men at a ratio of about 10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease suggesting a dose effect on the X chromosome. METHODS: We examined cohorts of Sjögren's syndrome or SLE patients with intensity plots of X chromosome single nucleotide polymorphism (SNP) alleles along with karyotype of selected subjects...
July 10, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28688978/molecular-characterization-of-complete-genomic-segment-2-of-picobirnavirus-strains-detected-in-a-cat-and-a-dog
#7
Ryan Navarro, Chan Yibin, Rajeev Nair, Andrea Peda, Meiji Soe Aung, Jennifer Ketzis, Yashpal S Malik, Nobumichi Kobayashi, Souvik Ghosh
We report here molecular characterization of complete genomic segment-2 of picobirnavirus (PBV) strains PBV/Cat/KNA/K40/2014 and PBV/Dog/KNA/RVC7/2015 detected in a cat (Felis catus) and a dog (Canis lupus familiaris), respectively, on the Caribbean island of St. Kitts. To obtain the full-length nucleotide (nt) sequence of gene segment-2 of the canine and feline PBV strains, the 5'- and 3'- portions of gene segment-2 containing an overlapping region were amplified using a non-specific primer-based amplification method with modifications...
July 5, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28680672/phylogenetic-evidence-for-the-ancient-himalayan-wolf-towards-a-clarification-of-its-taxonomic-status-based-on-genetic-sampling-from-western-nepal
#8
Geraldine Werhahn, Helen Senn, Jennifer Kaden, Jyoti Joshi, Susmita Bhattarai, Naresh Kusi, Claudio Sillero-Zubiri, David W Macdonald
Wolves in the Himalayan region form a monophyletic lineage distinct from the present-day Holarctic grey wolf Canis lupus spp. (Linnaeus 1758) found across Eurasia and North America. Here, we analyse phylogenetic relationships and the geographic distribution of mitochondrial DNA haplotypes of the contemporary Himalayan wolf (proposed in previous studies as Canis himalayensis) found in Central Asia. We combine genetic data from a living Himalayan wolf population collected in northwestern Nepal in this study with already published genetic data, and confirm the Himalayan wolf lineage based on mitochondrial genomic data (508 bp cytochrome b and 242 bp D-loop), and X- and Y-linked zinc-finger protein gene (ZFX and ZFY) sequences...
June 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28679751/aim2-like-receptors-positively-and-negatively-regulate-the-interferon-response-induced-by-cytosolic-dna
#9
Yuki Nakaya, Jingtao Lilue, Spyridon Stavrou, Eileen A Moran, Susan R Ross
Cytosolic DNAs derived from retrotransposons serve as pathogen-associated molecular patterns for pattern recognition receptors (PRRs) that stimulate the induction of interferons (IFNs) and other cytokines, leading to autoimmune disease. Cyclic GMP-AMP synthase is one PRR that senses retrotransposon DNA, activating type I IFN responses through the stimulator of IFN genes (STING). Absent in melanoma 2 (AIM2)-like receptors (ALRs) have also been implicated in these pathways. Here we show that the mouse ALR IFI205 senses cytosolic retrotransposon DNA independently of cyclic GMP-AMP production...
July 5, 2017: MBio
https://www.readbyqxmd.com/read/28670251/genetic-similarities-and-differences-between-discoid-and-systemic-lupus-erythematosus-patients-within-the-polish-population
#10
Katarzyna Skonieczna, Rafał Czajkowski, Sebastian Kaszewski, Mariusz Gawrych, Aneta Jakubowska, Tomasz Grzybowski
INTRODUCTION: Many studies have shown that some SNPs might be a risk factor for systemic lupus erythematosus (SLE), but little is known about potential susceptibility loci of the skin types of the disease. Discoid lupus erythematosus (DLE) is the most common form of the cutaneous lupus erythematosus. Nevertheless, a genetic contribution to DLE is not fully recognized. AIM: We aimed to analyze three SNPs located in the STAT4 (rs7574865), ITGAM (rs1143679) and TNXB (rs1150754) genes in both DLE and SLE patients from Poland...
June 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28657857/genetic-characterization-of-canine-parvovirus-in-sympatric-free-ranging-wild-carnivores-in-portugal
#11
Carla Miranda, Nuno Santos, Colin Parrish, Gertrude Thompson
Since its emergence in the 1970s, canine parvovirus (CPV) has been reported in domestic and nondomestic carnivores worldwide with severe implications on their health and survival. Here, we aim to better understand CPV circulation in multihost-pathogens systems by characterizing CPV DNA or viruses in 227 free-ranging wild carnivores of 12 species from Portugal. Collected samples during 1995-2011 were analyzed by PCR and sequence analysis. The canine parvovirus DNA was detected in 4 (2%) animals of two species, namely in wolves (Canis lupus; 3/63, 5%, 95% confidence interval=1...
June 28, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28649351/new-insights-into-the-genetic-composition-and-phylogenetic-relationship-of-wolves-and-dogs-in-the-iberian-peninsula
#12
Ana Elisabete Pires, Isabel R Amorim, Carla Borges, Fernanda Simões, Tatiana Teixeira, Andreia Quaresma, Francisco Petrucci-Fonseca, José Matos
This study investigates the gene pool of Portuguese autochthonous dog breeds and their wild counterpart, the Iberian wolf subspecies (Canis lupus signatus), using standard molecular markers. A combination of paternal and maternal molecular markers was used to investigate the genetic composition, genetic differentiation and genetic relationship of native Portuguese dogs and the Iberian wolf. A total of 196 unrelated dogs, including breed and village dogs from Portugal, and other dogs from Spain and North Africa, and 56 Iberian wolves (wild and captive) were analyzed for nuclear markers, namely Y chromosome SNPs, Y chromosome STR loci, autosomal STR loci, and a mitochondrial fragment of the control region I...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#13
REVIEW
Rithy Meas, Matthew J Burak, Joann B Sweasy
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with no known cure that affects at least five million people worldwide. Monozygotic twin concordance and familial aggregation studies strongly suggest that lupus results from genetic predisposition along with environmental exposures including UV light. The majority of the common risk alleles associated with genetic predisposition to SLE map to genes associated with the immune system. However, evidence is emerging that implicates a role for aberrant DNA repair in the development of lupus...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28623084/pathogenesis-of-human-systemic-lupus-erythematosus-a-cellular-perspective
#14
REVIEW
Vaishali R Moulton, Abel Suarez-Fueyo, Esra Meidan, Hao Li, Masayuki Mizui, George C Tsokos
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs. A complex interaction of genetics, environment, and hormones leads to immune dysregulation and breakdown of tolerance to self-antigens, resulting in autoantibody production, inflammation, and destruction of end-organs. Emerging evidence on the role of these factors has increased our knowledge of this complex disease, guiding therapeutic strategies and identifying putative biomarkers. Recent findings include the characterization of genetic/epigenetic factors linked to SLE, as well as cellular effectors...
July 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28619073/genome-wide-pathway-analysis-identifies-vegf-pathway-association-with-oral-ulceration-in-systemic-lupus-erythematosus
#15
Adrià Aterido, Antonio Julià, Patricia Carreira, Ricardo Blanco, José Javier López-Longo, José Javier Pérez Venegas, Àlex Olivé, José Luís Andreu, Maria Ángeles Aguirre-Zamorano, Paloma Vela, Joan M Nolla, José Luís Marenco-de la Fuente, Antonio Zea, José María Pego, Mercedes Freire, Elvira Díez, María López-Lasanta, Mireia López-Corbeto, Núria Palau, Raül Tortosa, Josep Lluís Gelpí, Devin Absher, Richard M Myers, Antonio Fernández-Nebro, Sara Marsal
BACKGROUND: Systemic lupus erythematosus (SLE) is a genetically complex rheumatic disease characterized by heterogeneous clinical manifestations of unknown etiology. Recent studies have suggested the existence of a genetic basis for SLE heterogeneity. The objective of the present study was to identify new genetic variation associated with the clinically relevant phenotypes in SLE. METHODS: A two-stage pathway-based approach was used to identify the genetic variation associated with the main clinical phenotypes in SLE...
June 15, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28615729/systemic-lupus-erythematosus-baff-emerges-from-the-genetic-shadows
#16
William Stohl
No abstract text is available yet for this article.
August 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28611770/relevance-of-cd6-mediated-interactions-in-the-regulation-of-peripheral-t-cell-responses-and-tolerance
#17
Marta Consuegra-Fernández, Mario Martínez-Florensa, Fernando Aranda, José de Salort, Noelia Armiger-Borràs, Teresa Lozano, Noelia Casares, Juan José Lasarte, Pablo Engel, Francisco Lozano
The CD6 lymphocyte receptor has been involved in the pathophysiology of different autoimmune disorders and is now considered a feasible target for their treatment. In vitro data show the relevance of CD6 in the stabilization of adhesive contacts between T-cell and antigen-presenting cells, and the modulation of T-cell receptor signals. However, the in vivo consequences of such a function are yet undisclosed due to the lack of suitable genetically modified animal models. Here, the in vitro and in vivo challenge of CD6-deficient (CD6(-/-)) cells with allogeneic cells was used as an approach to explore the role of CD6 in immune responses under relative physiological stimulatory conditions...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28606963/a-single-nucleotide-polymorphism-in-the-ncf1-gene-leading-to-reduced-oxidative-burst-is-associated-with-systemic-lupus-erythematosus
#18
Lina M Olsson, Åsa C Johansson, Birgitta Gullstrand, Andreas Jönsen, Saedis Saevarsdottir, Lars Rönnblom, Dag Leonard, Jonas Wetterö, Christopher Sjöwall, Elisabet Svenungsson, Iva Gunnarsson, Anders A Bengtsson, Rikard Holmdahl
OBJECTIVES: Ncf1 polymorphisms leading to low production of reactive oxygen species (ROS) are strongly associated with autoimmune diseases in animal models. The human NCF1 gene is very complex with both functional and non-functional gene copies and genotyping requires assays specific for functional NCF1 genes. We aimed at investigating association and function of the missense single nucleotide polymorphism (SNP), rs201802880 (here denoted NCF1-339) in NCF1 with systemic lupus erythematosus (SLE)...
June 12, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28606749/cardiovascular-disease-in-systemic-lupus-erythematosus-a-comprehensive-update
#19
REVIEW
Mayra Giannelou, Clio P Mavragani
Heightened rates of both cardiovascular (CV) events and subclinical atherosclerosis, documented by imaging and vascular function techniques are well established in systemic lupus erythematosus (SLE). While traditional CV factors such as smoking, dyslipidemia, diabetes mellitus (DM), hypertension, central obesity and hyperhomocysteinemia have been reported to be prevalent in lupus patients, they do not fully explain the high rates of ischemic events so far reported, implying that other factors inherent to disease itself could account for the enhanced risk, including disease duration, activity and chronicity, psychosocial factors, medications, genetic variants and altered immunological mechanisms...
June 9, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28585599/discordant-disease-expression-of-neonatal-lupus-erythematosus-in-twins
#20
Faiza Mustafa, Yawar Najam, Mohammad Tauqeer Akbar, Tahir Aziz Ahmed
Neonatal lupus erythematosus is an autoimmune disease resulting from the trans-placental passage of maternal anti-SSA/Ro, anti-SSB/La, and less frequently anti-RNP antibodies to the foetus. At the time of diagnosis 50% of mothers are asymptomatic. Neonatal manifestations of this multisystem disease may include congenital heart block, cutaneous lesions and haematological abnormalities. We present the case of congenital neonatal lupus erythematosus in non-identical twins, showing variability in clinical manifestation of this disease,despite receiving the same level of antibodies from the mother...
June 2017: JPMA. the Journal of the Pakistan Medical Association
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