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https://www.readbyqxmd.com/read/30514861/epistatic-interaction-of-erap1-and-hla-b-51-in-iranian-patients-with-beh%C3%A3-et-s-disease
#1
Mahdi Mahmoudi, Amir Ashraf-Ganjouei, Ali Javinani, Farhad Shahram, Akira Meguro, Nobuhisa Mizuki, Nooshin Ahmadzadeh, Saeideh Jafarinejad-Farsangi, Shayan Mostafaei, Hoda Kavosi, Seyedeh Tahereh Faezi, Maassoumeh Akhlaghi, Fereydoun Davatchi
Behçet's Disease (BD) pathogenesis remains unclear, but some genetic loci and environmental factors are proposed to play a role. Here, we investigate the association of the endoplasmic reticulum aminopeptidase-1 (ERAP1) gene variants and HLA-B*51 with BD susceptibility and clinical manifestations in Iranian patients. In the study, 748 BD patients and 776 healthy individuals were included. The MGB-TaqMan Allelic Discrimination method was used to genotype 10 common missense single nucleotide polymorphisms (SNPs) and one intronic SNP in the ERAP1 gene region...
December 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30461632/associations-between-erap1-polymorphisms-and-susceptibility-to-ankylosing-spondylitis-a-meta-analysis-of-east-asian-population
#2
Yuqing Jiang, Yi Ren, Dong Zhou, Youjia Xu
BACKGROUND: The genetic factor is importantly enrolled in the pathogenesis of ankylosing spondylitis (AS) and haplotype leukocyte antigen (HLA)-B27 is the most well-known. However, only 1% to 5% of B27-positive individuals will develop AS, and it confers only 20% to 30% of the overall genetic risks, indicating more genes other than HLA-B27 may play important roles in AS pathologies. The present study aims to investigate whether the polymorphisms of endoplasmic reticulum aminopeptidase 1 (ERAP1) is associated with increased risk of AS susceptibility...
November 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30425713/how-erap1-and-erap2-shape-the-peptidomes-of-disease-associated-mhc-i-proteins
#3
REVIEW
José A López de Castro
Four inflammatory diseases are strongly associated with Major Histocompatibility Complex class I (MHC-I) molecules: birdshot chorioretinopathy (HLA-A* 29:02), ankylosing spondylitis (HLA-B* 27), Behçet's disease (HLA-B* 51), and psoriasis (HLA-C* 06:02). The endoplasmic reticulum aminopeptidases (ERAP) 1 and 2 are also risk factors for these diseases. Since both enzymes are involved in the final processing steps of MHC-I ligands it is reasonable to assume that MHC-I-bound peptides play a significant pathogenetic role...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/30419264/the-genetics-structure-and-function-of-the-m1-aminopeptidase-oxytocinase-subfamily-and-their-therapeutic-potential-in-immune-mediated-disease
#4
REVIEW
Aimee L Hanson, Craig J Morton, Michael W Parker, Darrell Bessette, Tony J Kenna
The oxytocinase subfamily of M1 aminopeptidases plays an important role in processing and trimming of peptides for presentation on major histocompatibility (MHC) Class I molecules. Several large-scale genomic studies have identified association of members of this family of enzymes, most notably ERAP1 and ERAP2, with immune-mediated diseases including ankylosing spondylitis, psoriasis and birdshot chorioretinopathy. Much is now known about the genetics of these enzymes and how genetic variants alter their function, but how these variants contribute to disease remains largely unresolved...
November 9, 2018: Human Immunology
https://www.readbyqxmd.com/read/30412714/association-analysis-of-erap1-gene-single-nucleotide-polymorphism-in-susceptibility-to-ankylosing-spondylitis-in-iranian-population
#5
Farhad Babaie, Mehrdad Ebrazeh, Maryam Hemmatzadeh, Fatemeh Sadat Mohammadi, Arezoo Gowhari Shabgah, Mehrzad Hajaliloo, Ali Asghar Ebrahimi, Naghmeh Shirafkan, Gholamreza Azizi, Hamed Mohammadi, Zohreh Babaloo
Background Ankylosing spondylitis (AS) is a debilitating spondyloarthropathy that has been associated with variation in several genes. Human leukocyte antigen (HLA)-B27 constructs an impaired structure, culminating in recognition and activation of immune system. Impaired function of Endoplasmic reticulum aminopeptidase (ERAP) 1, which primes peptides to be loaded in HLA molecules, has strongly been associated with AS proneness. Here, we intended to investigate the possible association of ERAP1 gene single nucleotide polymorphisms (SNPs) with AS susceptibility in Iranian patients...
November 6, 2018: Immunology Letters
https://www.readbyqxmd.com/read/30365037/acute-phase-protein-like-properties-of-endoplasmic-reticulum-aminopeptidase-1
#6
Yoshikuni Goto, Takahiro J Nakamura, Kenji Ogawa, Akira Hattori, Masafumi Tsujimoto
Endoplasmic reticulum aminopeptidase 1 (ERAP1) is a multi-functional enzyme. In this study, we analyzed its role in lipopolysaccharide-induced inflammatory response in wild-type and ERAP1-knockout mice. Following lipopolysaccharide injection, ERAP1 was secreted into the blood, increasing leucine aminopeptidase activity and NO synthesis therein. Among the amino acids tested, arginine concentration was significantly increased in wild-type mice compared to ERAP1-knockout mice. These results suggest that ERAP1 behaves similar to acute-phase proteins, which are secreted into the blood in response to infectious/inflammatory stimuli and are involved in enhancing NO synthesis as a host defense mechanism...
October 26, 2018: Journal of Biochemistry
https://www.readbyqxmd.com/read/30341905/beh%C3%A3-et-s-disease-an-immunogenetic-perspective
#7
REVIEW
Arash Salmaninejad, Mohammad Reza Zamani, Arezoo Gowhari Shabgah, Seyedmojtaba Hosseini, Fatemeh Mollaei, Nayyerehalsadat Hosseini, Amirhossein Sahebkar
Behçet's disease (BD) is a chronic and rare multisystemic disorder defined by autoimmunity and inflammatory characteristics, manifested by ocular lesions, recurrent genital and oral ulcers, skin symptoms and arthritis as well as neurological, intestinal, and vascular involvement. Despite the unknown cause of BD, there is some strong documentation for immunological, genetic, environmental, and infectious factors playing a role in the pathogenesis of BD. While the nature of the genetic variants remains unidentified, many genetic risk factors are considered to contribute to BD susceptibility...
October 20, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/30313118/association-of-erap1-gene-polymorphisms-with-the-susceptibility-to-psoriasis-vulgaris-a-case-control-study
#8
Yanjie Fu, Xiuyan Li, Yuanzheng Chen, Rongpeng Liu, Renheng Wang, Nan Bai
Psoriasis vulgaris (PsV), also known as plaque psoriasis, is a life-threatening autoimmune skin disease. Inflammatory factors may contribute to the development of PsV. Present study aimed to explore the association of endoplasmic reticulum aminopeptidase 1 (ERAP1) gene polymorphisms (rs26653 and rs27524) with PsV susceptibility in a Chinese Han population. Subgroup analysis was also performed based on the onset of PsV.Present case-control study included 143 patients with PsV and 149 healthy controls. Direct sequencing method was used for genotyping ERAP1 polymorphisms...
October 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30215709/functionally-distinct-erap1-and-erap2-are-a-hallmark-of-hla-a29-birdshot-uveitis
#9
Jonas J W Kuiper, Jessica Setten, Matthew Devall, Mircea Cretu-Stancu, Sanne Hiddingh, Roel A Ophoff, Tom O A R Missotten, Mirjam Velthoven, Anneke I Den Hollander, Carel B Hoyng, Edward James, Emma Reeves, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Javier Martín, Bobby P C Koeleman, Joke H Boer, Sara L Pulit, Ana Márquez, Timothy R D J Radstake
Birdshot Uveitis (Birdshot) is a rare eye condition that affects HLA-A29-positive individuals and could be considered a prototypic member of the recently proposed "MHC-I-opathy" family. Genetic studies have pinpointed the ERAP1 and ERAP2 genes as shared associations across MHC-I-opathies, which suggests ERAP dysfunction may be a root cause for MHC-I-opathies. We mapped the ERAP1 and ERAP2 haplotypes in 84 Dutch cases and 890 controls. We identified association at variant rs10044354, which mediated a marked increase in ERAP2 expression...
September 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30144977/the-gene-expression-of-two-endoplasmic-reticulum-aminopeptidase-1-isoforms-is-regulated-by-distinct-posttranscriptional-mechanisms
#10
Kazuma Aoki, Akemi Furuya, Ken Matsumoto, Masafumi Tsujimoto
Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) is a multifunctional enzyme belonging to the M1 family of aminopeptidases and shown to be associated with various autoimmune diseases. Human ERAP1 protein has two isoforms produced by alternative splicing of the 3' terminal exon, although their functional differences have not yet been fully clarified. In this study, we showed that the isoforms undergo different posttranscriptional regulation mechanisms via their respective 3' untranslated regions. Using a reporter system, we identified several cis-elements that are important for the regulation of alternative splicing...
September 18, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/30127455/erap1-deficient-mice-have-reduced-type-1-regulatory-t-cells-and-develop-skeletal-and-intestinal-features-of-ankylosing-spondylitis
#11
Yuliya Pepelyayeva, David P W Rastall, Yasser A Aldhamen, Patrick O'Connell, Sandra Raehtz, Fadel S Alyaqoub, Maja K Blake, Ashley M Raedy, Ariana M Angarita, Abdulraouf M Abbas, Cristiane N Pereira-Hicks, Sarah G Roosa, Laura McCabe, Andrea Amalfitano
Ankylosing spondylitis (AS) is a prototypical sero-negative autoimmune disease that affects millions worldwide. Single nucleotide polymorphisms in the Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) gene have been linked to AS via GWAS studies, however, the exact mechanism as to how ERAP1 contributes to pathogenesis of AS is not understood. We undertook µCT imaging and histologic analysis to evaluate bone morphology of the axial skeletons of ERAP1-/- mice and discovered the hallmark skeletal features of AS in these mice, including spinal ankylosis, osteoporosis, and spinal inflammation...
August 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30054427/the-role-of-polymorphic-erap1-in-autoinflammatory-disease
#12
REVIEW
Emma Reeves, Edward James
Autoimmune and autoinflammatory conditions represent a group of disorders characterized by self-directed tissue damage due to aberrant changes in innate and adaptive immune responses. These disorders possess widely varying clinical phenotypes and etiology; however, they share a number of similarities in genetic associations and environmental influences. Whilst the pathogenic mechanisms of disease remain poorly understood, genome wide association studies (GWAS) have implicated a number of genetic loci that are shared between several autoimmune and autoinflammatory conditions...
September 3, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/30033103/overexpression-of-low-density-lipoprotein-receptor-related-protein-1-lrp1-is-associated-with-worsened-prognosis-and-decreased-cancer-immunity-in-clear-cell-renal-cell-carcinoma
#13
Chenchen Feng, Guanxiong Ding, Qiang Ding, Hui Wen
AIM: Clear-cell renal cell carcinoma (ccRCC) is characterized with underlying genetic disorders and the role of low density lipoprotein receptor-related protein 1 (LRP1) in ccRCC is unknown. METHOD: An in silico exploratory analysis using multiple public genetic datasets was used to establish association between LRP1 expression and clinicopathological parameters. Associations of interest were validated using 155 ccRCC samples using immunohistochemistry. RESULTS: LRP1 was overexpressed in tumor compared with normal kidney tissue...
September 10, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/30008647/-erap1-and-hla-c-06-are-strongly-associated-with-the-risk-of-psoriasis-in-the-population-of-northern-poland
#14
Marta Stawczyk-Macieja, Aneta Szczerkowska-Dobosz, Krzysztof Rębała, Magdalena Gabig-Cimińska, Roman J Nowicki, Agnieszka Haraś, Lidia Cybulska, Ewa Kapińska
Introduction: HLA-C*06 is a major psoriasis genetic risk marker. Recent reports have been focused on the role of different polymorphisms within genes involved in the functioning of the epidermal barrier and antigen processing in the pathogenesis of psoriasis. Data on the association between genetic variants of LCE3B_LCE3C, CSTA, ERAP1 , ZAP70 and this dermatosis in the population from Eastern Europe are lacking. Aim: To compare the association between known genetic risk markers and psoriasis in a cohort of northern Polish patients with psoriasis and healthy controls...
June 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29991817/an-allelic-variant-in-the-intergenic-region-between-erap1-and-erap2-correlates-with-an-inverse-expression-of-the-two-genes
#15
Fabiana Paladini, Maria Teresa Fiorillo, Carolina Vitulano, Valentina Tedeschi, Matteo Piga, Alberto Cauli, Alessandro Mathieu, Rosa Sorrentino
The Endoplasmatic Reticulum Aminopeptidases ERAP1 and ERAP2 are implicated in a variety of immune and non-immune functions. Most studies however have focused on their role in shaping the HLA class I peptidome by trimming peptides to the optimal size. Genome Wide Association Studies highlighted non-synonymous polymorphisms in their coding regions as associated with several immune mediated diseases. The two genes lie contiguous and oppositely oriented on the 5q15 chromosomal region. Very little is known about the transcriptional regulation and the quantitative variations of these enzymes...
July 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29976160/identification-of-ankdd1b-variants-in-an-ankylosing-spondylitis-pedigree-and-a-sporadic-patient
#16
Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang, Long Ma
BACKGROUND: Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS: We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. RESULTS: We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS...
July 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29850473/gene-variation-of-endoplasmic-reticulum-aminopeptidases-1-and-2-and-risk-of-blood-pressure-progression-and-incident-hypertension-among-17-255-initially-healthy-women
#17
Robert Y L Zee, Alicia Rivera, Yaritza Inostroza, Paul M Ridker, Daniel I Chasman, Jose R Romero
Recent studies have demonstrated the importance of endoplasmic reticulum aminopeptidase (ERAP) in blood pressure (BP) homeostasis. To date, no large prospective, genetic-epidemiological data are available on genetic variation within ERAP and hypertension risk. The association of 45 genetic variants of ERAP1 and ERAP2 was investigated in 17,255 Caucasian female participants from the Women's Genome Health Study. All subjects were free of hypertension at baseline. During an 18-year follow-up period, 10,216 incident hypertensive cases were identified...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29803000/hla-b-27-subtypes-and-their-implications-in-the-pathogenesis-of-ankylosing-spondylitis
#18
REVIEW
Navid Dashti, Mahdi Mahmoudi, Saeed Aslani, Ahmadreza Jamshidi
Ankylosing spondylitis (AS) is a highly heritable kind of arthritis that affects the vertebral column. AS risk has been associated strongly with Human leukocyte antigen (HLA)-B*27. In fact, some HLA-B*27 subtypes have been associated with the increased disease risk, although some specific subtypes have not shown such associations. It is supposed that HLA-B*27 plays a major role in the etiopathogenesis of the disease. However, the difference in pathogenic outcomes of HLA-B*27 certain subtypes needs to be clarified...
September 5, 2018: Gene
https://www.readbyqxmd.com/read/29778526/rt-qpcr-analysis-of-human-melanoma-progression-related-genes-a-novel-workflow-for-selection-and-validation-of-candidate-reference-genes
#19
Marcelina E Janik, Sabina Szwed, Paweł Grzmil, Radosław Kaczmarek, Marcin Czerwiński, Dorota Hoja-Łukowicz
The objective of this study was to identify a normalizer or combination of normalizers for quantitative evaluation of the expression of a target gene of interest during melanoma progression. Adult melanocytes, uveal primary melanoma cells and cutaneous primary and metastatic melanoma cells were used to construct a panel of 14 experimental models reflecting cancer promotion and progression. Hypoxanthine phosphoribosyltransferase 1 (HPRT1), glucuronidase beta (GUSB), ribosomal protein S23 (RPS23), phosphoglycerate kinase 1 (PGK1) and small nuclear ribonucleoprotein progression...
August 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29769354/allele-specific-alterations-in-the-peptidome-underlie-the-joint-association-of-hla-a-29-02-and-endoplasmic-reticulum-aminopeptidase-2-erap2-with-birdshot-chorioretinopathy
#20
Alejandro Sanz-Bravo, Adrian Martín-Esteban, Jonas J W Kuiper, Marina García-Peydró, Eilon Barnea, Arie Admon, José A López de Castro
Virtually all patients of the rare inflammatory eye disease birdshot chorioretinopathy (BSCR) carry the HLA-A*29:02 allele. BSCR is also associated with endoplasmic reticulum aminopeptidase 2 (ERAP2), an enzyme involved in processing HLA class I ligands, thus implicating the A*29:02 peptidome in this disease. To investigate the relationship between both risk factors we employed label-free quantitative mass spectrometry to characterize the effects of ERAP2 on the A*29:02-bound peptidome. An ERAP2-negative cell line was transduced with lentiviral constructs containing GFP-ERAP2 or GFP alone, and the A*29:02 peptidomes from both transduced cells were compared...
August 2018: Molecular & Cellular Proteomics: MCP
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