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behcet genetics

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https://www.readbyqxmd.com/read/27875029/decreased-activity-and-genetic-polymorphisms-of-cyp2c19-in-beh%C3%A3-et-s-disease
#1
Mustafa Tugrul Goktas, R Ozgur Karaca, Said Kalkisim, Lokman Cevik, Levent Kilic, Ali Akdogan, Melih O Babaoglu, Atilla Bozkurt, Leif Bertilsson, Umit Yasar
Behçet's disease (BD) is a systemic autoimmune disorder. Cytochrome P450 enzymes (CYPs) are responsible for various drug metabolism reactions as well as those of endogenous substances which may be associated with autoimmune disease susceptibility. Recently, we reported that in patients with BD, CYP2C9 seems to be down-regulated due to inflammation. In the same Turkish BD patients, we investigated whether also CYP2C19 activity is decreased. Lansoprazole (30 mg) was given as a probe drug to evaluate CYP2C19 activity in 59 patients with BD and 27 healthy control volunteers...
November 22, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27791958/one-year-in-review-2016-beh%C3%A3-et-s-syndrome
#2
REVIEW
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
Several articles highlighting the epidemiology, pathogenesis, clinical features, treatment modalities and disease assessment of Behçet's syndrome (BS) have been published during the last year. Clinical and radiological features of lower extremity deep vein thrombosis due to BS can be quite different than those found in thrombosis due to other causes; additionally, frequency of post-thrombotic syndrome is significantly increased in BS. Some clinical and colonoscopic features are useful in differentiating BS from Crohn's disease...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27776949/beh%C3%A3-et-s-disease%C3%A2-and-fmf-two-sides-of-the-same-coin-or-just-an-association-a-cross-sectional-study%C3%A2
#3
Abdulla Watad, Shmuel Tiosano, Dana Yahav, Doron Comaneshter, Yehuda Shoenfeld, Arnon D Cohen, Howard Amital
BACKGROUND: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever, arthritis, serositis and pain. Behçet's disease (BD) is an inflammatory disorder with a genetic basis, characterized by oral and genital ulcers, uveitis, pustular erythematous cutaneous lesions, arthritis, central nervous system involvement and possible vascular manifestations such as venous thrombosis, arteritis and aneurysms. OBJECTIVES: To investigate the association and actual differentiation between these two entities in a large-scale population-based study...
October 21, 2016: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/27775096/genetic-analysis-of-innate-immunity-in-behcet-s-disease-identifies-an-association-with-il-37-and-il-18rap
#4
Handan Tan, Bolin Deng, Hongsong Yu, Yi Yang, Lin Ding, Qi Zhang, Jieying Qin, Aize Kijlstra, Rui Chen, Peizeng Yang
Interleukin-1 (IL-1) and the IL-1 receptor (IL-1R) family play an important role in the pathogenesis of inflammatory diseases. This study aimed to investigate the association between single nucleotide polymorphisms (SNP) of IL-1 and IL-1R family genes with Vogt-Koyanagi-Harada (VKH) and Behcet's disease (BD) in Han Chinese. The case-control study was divided into two stages and included 419 VKH cases, 1063 BD cases and 1872 healthy controls. The MassARRAY platform (Sequenom), iPLEX Gold Assay and TaqMan SNP assays were used to score genotypes of 24 SNPs...
October 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27660198/pd-1-pd-l-and-autoimmunity-a-growing-relationship
#5
Mohammad Reza Zamani, Saeed Aslani, Arash Salmaninejad, Mohammad Reza Javan, Nima Rezaei
Programmed death 1 (PD-1) and its ligands, namely PD-L1 and PD-L2, are one of the key factors responsible for inhibitory T cell signaling, mediating the mechanisms of tolerance and providing immune homeostasis. Mounting evidence demonstrates that impaired PD-1:PD-L function plays an important role in a variety of autoimmune diseases such as Type 1 diabetes (T1D), encephalomyelitis, inflammatory bowel diseases (IBD), Rheumatoid Arthritis (RA), autoimmune hepatitis (AIH), Behcet's disease (BD), myasthenia gravis (MG), autoimmune uveitis (AU), Sjögren's syndrome (SjS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), myocarditis, and ankylosing spondylitis (AS)...
September 15, 2016: Cellular Immunology
https://www.readbyqxmd.com/read/27660093/association-study-of-rs924080-and-rs11209032-polymorphisms-of-il23r-il12rb2-in-a-northern-chinese-han-population-with-behcet-s-disease
#6
Xue Qin, Juanjuan Xu, Ziyan Wu, Fei Sun, Hua Chen, Wenjie Zheng, Shan Li, Ping Li, Si Chen, Ming Shen, Wen Zhang, Xin You, Qingjun Wu, Fengchun Zhang, Yong Zhe Li
OBJECTIVES: Two genome-wide association studies (GWAS) have identified the IL-23 receptor- IL-12 receptor β2 (IL23R-IL12RB2) as the susceptibility genetic region in Turkish and Japanese population with Behçet's disease (BD). We investigated the association of this region with BD in a Northern Chinese Han population. METHODS: A total of 407 patients with BD and 421 healthy controls were genotyped for single nucleotide polymorphisms (SNPs) rs924080 and rs11209032 using the Sequenom MassArray system...
September 19, 2016: Human Immunology
https://www.readbyqxmd.com/read/27562285/-behcet-s-disease-and-infection
#7
M H Pei, M F Zhang
Behcet's disease (BD) is a systemic vasculitis of unknown etiology. Uveitis, which is common and therapeutically challenging, is the major ocular manifestation of BD. Researches have shown that, in addition to the genetic components (e.g. HLA-B51), environmental factors such as infection also play important roles in the pathogenesis of BD. In recent years, with the advances in bio-detecting technologies, accumulating evidence has shown an association between microbial infections and previously believed non-infectious immune disorders...
August 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27555969/low-level-laser-therapy-to-reduce-recurrent-oral-ulcers-in-beh%C3%A3-et-s-disease
#8
D B Gandhi Babu, Sunanda Chavva, Shefali Waghray, Neeharika Satya Jyothi Allam, Marella Kondaiah
Behçet's disease (BD) is a chronic, relapsing multisystemic vascular condition. Behçet's disease was described by Hulusi Behçet in 1937. This rare multisystem relapsing-remitting inflammatory disease is poorly understood but is thought to be an autoimmune inflammatory vasculitic process in a genetically predisposed population. Diagnosis of Behçet's disease is based on International Criteria of Behçet's Disease (ICBD). The present paper describes a case report of Behçet's syndrome where aphthous stomatitis was treated with low level laser therapy...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27548383/genetic-analysis-with-the-immunochip-platform-in-beh%C3%A3-et-disease-identification-of-residues-associated-in-the-hla-class-i-region-and-new-susceptibility-loci
#9
Lourdes Ortiz-Fernández, Francisco-David Carmona, Marco-Antonio Montes-Cano, José-Raúl García-Lozano, Marta Conde-Jaldón, Norberto Ortego-Centeno, María Jesús Castillo, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, María Rosa Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez de la Torre, Patricia Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez-Rodríguez, Teresa Camps, Santos Castañeda, Juan-Jose Alegre-Sancho, Javier Martín, María Francisca González-Escribano
Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6...
2016: PloS One
https://www.readbyqxmd.com/read/27547040/genetic-association-of-hla-a-26-a-31-and-b-51-with-behcet-s-disease-in-saudi-patients
#10
Fahda Al-Okaily, Seham Al-Rashidi, Maysoon Al-Balawi, Md Mustafa, Misbahul Arfin, Abdulrahman Al-Asmari
BACKGROUND: HLA-B*51 has been universally associated with Behcet's disease (BD) susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and -B alleles with BD in Saudi patients. MATERIALS AND METHODS: Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type((R)) SSO) in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls...
2016: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27522479/molecular-and-pathogenic-effects-of-endoplasmic-reticulum-aminopeptidases-erap1-and-erap2-in-mhc-i-associated-inflammatory-disorders-towards-a-unifying-view
#11
REVIEW
José A López de Castro, Carlos Alvarez-Navarro, Ariadna Brito, Pablo Guasp, Adrian Martín-Esteban, Alejandro Sanz-Bravo
The inflammatory diseases that are most strongly associated with major histocompatibility Complex class I (MHC-I) alleles are also influenced by endoplasmic reticulum aminopeptidase (ERAP) 1 and/or 2, often in epistasis with the susceptibility MHC-I allele. This review will focus on the four major MHC-I-associated inflammatory disorders: ankylosing spondylitis, birdshot chorioretinopathy, Behçet's disease and psoriasis. The genetics of ERAP1/ERAP2 association and the alterations induced by polymorphism of these enzymes on the risk MHC-I allotypes will be examined...
September 2016: Molecular Immunology
https://www.readbyqxmd.com/read/27489465/evaluation-of-cases-with-cerebral-thrombosis-in-children
#12
Olcay Ünver, Gazanfer Ekinci, Büşra Işın Kutlubay, Thomas Gülten, Sağer Güneş, Nilüfer Eldeş Hacıfazlıoğlu, Dilşad Türkdoğan
AIM: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. MATERIAL AND METHODS: The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. RESULTS: Seven of 11 patients were male (63...
June 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/27467110/pediatric-onset-chronic-nonspecific-multiple-ulcers-of-small-intestine-a-nationwide-survey-and-genetic-study-in-japan
#13
Keiichi Uchida, Atsushi Nakajima, Kosuke Ushijima, Shinobu Ida, Yoshitaka Seki, Fumihiko Kakuta, Daiki Abukawa, Hisayuki Tsukahara, Shun-Ichi Maisawa, Mikihiro Inoue, Toshimitsu Araki, Junji Umeno, Takayuki Matsumoto, Tomoaki Taguchi
We performed a Japanese nationwide survey of pediatric-onset chronic nonspecific multiple ulcers of the small intestine between January 2000 and July 2013 in 176 institutions of pediatric surgery or pediatric gastroenterology and clarified the clinical features associated with genetic abnormalities in the Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) gene. A total of four cases (three female and one male) were diagnosed in this series, which had to be differentiated from Crohn disease, Behçet's disease, tuberculosis, or drug-induced enteropathy...
June 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27347725/the-potential-of-genetically-guided-treatment-in-beh%C3%A3-et-s-disease
#14
Tamer A Gheita, Heba A Gheita, Sanaa A Kenawy
Continuous identification of specific targets and candidate genes together with novel approaches offers new promises for the future of gene therapy design in Behçet's disease (BD). Personalized medicine based on pharmacogenomics is being developed at the clinical stage to improve treatment response. Screening the whole gene and regulatory regions is important when searching for novel variants associated with such complex diseases. Different host genetic factors play significant roles in susceptibility to BD...
June 27, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27283393/sequencing-of-16s-rrna-reveals-a-distinct-salivary-microbiome-signature-in-beh%C3%A3-et-s-disease
#15
Patrick Coit, Gonca Mumcu, Filiz Ture-Ozdemir, Ali Ugur Unal, Ugur Alpar, Nagihan Bostanci, Tulin Ergun, Haner Direskeneli, Amr H Sawalha
Behçet's disease (BD) is characterized by recurrent oro-genital ulcers, mucocutaneous lesions, and serious organ involvement. We investigated the salivary microbiome in BD using high-throughput sequencing of the 16S rRNA V4 region. Stimulated saliva samples were collected from 31 BD patients and 15 healthy controls, and in 9 BD patients, a second saliva sample was collected following dental and periodontal treatment. Sequence analysis identified a total of 908 operational taxonomic units (OTUs) present across all samples...
August 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27281077/the-correlation-of-serum-il-12b-expression-with-disease-activity-in-patients-with-inflammatory-bowel-disease
#16
Hye Won Lee, Sook Hee Chung, Chang Mo Moon, Xiumei Che, Seung Won Kim, Soo Jung Park, Sung Pil Hong, Tae Il Kim, Won Ho Kim, Jae Hee Cheon
Genetic variants in IL12B, encoding the p40 subunit common in interleukin-12 (IL-12) and interleukin-23, were identified as the susceptibility loci for inflammatory bowel disease (IBD). This study aimed to identify the correlation of serum IL-12B expression with disease activity in patients with IBD and evaluate the possibility of IL-12B as a biomarker for assessing inflammatory status in IBD.A total of 102 patients with IBD, including 38, 32, and 32 patients with Crohn's disease (CD), ulcerative colitis (UC), and intestinal Behçet's disease (intestinal BD), respectively, were included...
June 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27241705/genotyping-of-relapsing-polychondritis-identified-novel-susceptibility-hla-alleles-and-distinct-genetic-characteristics-from-other-rheumatic-diseases
#17
Chikashi Terao, Hajime Yoshifuji, Yoshihisa Yamano, Hiroto Kojima, Kimiko Yurugi, Yasuo Miura, Taira Maekawa, Hiroshi Handa, Koichiro Ohmura, Hiroh Saji, Tsuneyo Mimori, Fumihiko Matsuda
OBJECTIVE: To uncover the genetic background of relapsing polychondritis (RPC), a rare autoimmune disease with unknown mechanisms characterized by systemic inflammation of the cartilage, to deepen our understanding of the pathophysiology of RPC and show its distinct genetic characteristics from other rheumatic diseases. METHODS: A total of 102 patients with RPC and 1000 healthy subjects were recruited for a two-staged genetic association study and genotyped for six HLA classical loci...
September 2016: Rheumatology
https://www.readbyqxmd.com/read/27241066/corrigendum-genetic-variations-of-nlr-family-genes-in-behcet-s-disease
#18
Lin Li, Hongsong Yu, Yanni Jiang, Bolin Deng, Lin Bai, Aize Kijlstra, Peizeng Yang
No abstract text is available yet for this article.
2016: Scientific Reports
https://www.readbyqxmd.com/read/27226232/bioinformatics-driven-new-immune-target-discovery-in-disease
#19
C Yang, P Chen, W Zhang, H Du
Biomolecular network analysis has been widely applied in the discovery of cancer driver genes and molecular mechanism anatomization of many diseases on the genetic level. However, the application of such approach in the potential antigen discovery of autoimmune diseases remains largely unexplored. Here, we describe a previously uncharacterized region, with disease-associated autoantigens, to build antigen networks with three bioinformatics tools, namely NetworkAnalyst, GeneMANIA and ToppGene. First, we identified histone H2AX as an antigen of systemic lupus erythematosus by comparing highly ranked genes from all the built network-derived gene lists, and then a new potential biomarker for Behcet's disease, heat shock protein HSP 90-alpha (HSP90AA1), was further screened out...
August 2016: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/27222359/analysis-of-receptor-tyrosine-kinase-genetics-identifies-two-novel-risk-loci-in-gas6-and-pros1-in-beh%C3%A3-et-s-disease
#20
Jieying Qin, Lin Li, Donglei Zhang, Hongsong Yu, Handan Tan, Jun Zhang, Bolin Deng, Aize Kijlstra, Peizeng Yang
The TAM kinase (Tyro3, Axl, Mer) and its two ligands (Gas6 and protein S) have been shown to play an important regulatory role in the innate immune response. The present study aimed to investigate whether the tag single-nucleotide polymorphisms (tag SNPs) of these 5 protein-coding genes are associated with Behçet's disease (BD). A two-stage association study was performed in a total of 907 BD patients and 1780 healthy controls. Altogether 32 polymorphisms were tested, using a Sequenom MassARRAY genotyping method in the first stage and a PCR-restriction fragment length polymorphism (PCR-RFLP) assay in the replication phase...
2016: Scientific Reports
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