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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/28335003/identification-of-genetic-variants-affecting-vitamin-d-receptor-binding-and-associations-with-autoimmune-disease
#1
Giuseppe Gallone, Wilfried Haerty, Giulio Disanto, Sreeram V Ramagopalan, Chris P Ponting, Antonio J Berlanga-Taylor
Large numbers of statistically significant associations between sentinel SNPs and case-control status have been replicated by genome-wide association studies. Nevertheless, few underlying molecular mechanisms of complex disease are currently known. We investigated whether variation in binding of a transcription factor, the vitamin D receptor (VDR) whose activating ligand vitamin D has been proposed as a modifiable factor in multiple disorders, could explain any of these associations. VDR modifies gene expression by binding DNA as a heterodimer with the Retinoid X receptor (RXR)...
March 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333360/gammadelta-t-cells-in-crohn-s-disease-a-new-player-in-the-disease-pathogenesis
#2
Catalan-Serra Ignacio, Arne Kristian Sandvik, Torunn Bruland, Juan Carlos Andreu-Ballester
Crohn's disease (CD) is a chronic relapsing systemic disease affecting the gastrointestinal tract. An altered immune response to commensal intestinal bacteria takes place in genetically predisposed individuals, resulting in chronic inflammation in the gut. Several alterations in the innate immunity mechanisms have been described in recent years. Thus, the study of the immunological aspects of CD, specifically the role of lymphocytes, is a key element for understanding the pathogenesis of the disease. Gammadelta T cells (γδ T cells) constitute only a small proportion of the lymphocytes that circulate in the blood and peripheral organs and they are present mainly in the epithelia, where they can constitute up to 40% of intraepithelial lymphocytes (IEL) in the intestinal mucosa...
March 16, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28333213/x-chromosome-wide-association-study-identifies-a-susceptibility-locus-for-inflammatory-bowel-disease-in-koreans
#3
Ho-Su Lee, Hyunjung Oh, Jiwon Baek, Seulgi Jung, Myunghee Hong, Kyung Mo Kim, Hyoung Doo Shin, Kyung-Jo Kim, Sang Hyoung Park, Byong Duk Ye, Buhm Han, Suk-Kyun Yang, Kyuyoung Song
Background and Aims: Genome-wide association studies of inflammatory bowel disease identified >200 susceptibility loci only in autosomes. This study aimed to identify inflammatory bowel disease susceptibility loci on the X chromosome. Methods: We performed an X chromosome-wide association study in Korean patients with inflammatory bowel disease. We analyzed X chromosome data from our recent genome-wide association studies, including 1,505 cases (922 Crohn's disease and 583 ulcerative colitis) and 4,041 controls during the discovery phase, followed by replication in additional 1,989 cases (993 Crohn's disease, 996 ulcerative colitis) and 3,491 controls...
February 22, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28332072/are-the-autoimmune-inflammatory-syndrome-induced-by-adjuvants-asia-and-the-undifferentiated-connective-tissue-disease-uctd-related-to-each-other-a-case-control-study-of-environmental-exposures
#4
F Scanzi, L Andreoli, M Martinelli, M Taraborelli, I Cavazzana, N Carabellese, R Ottaviani, F Allegri, F Franceschini, N Agmon-Levin, Y Shoenfeld, Angela Tincani
The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is an entity that includes different autoimmune conditions observed after exposure to an adjuvant. Patients with undifferentiated connective tissue disease (UCTD) present many signs and symptoms of ASIA, alluding to the idea that an exposure to adjuvants can be a trigger also for UCTD. The aim of this case-control study was to investigate exposure to adjuvants prior to disease onset in patients affected by UCTD. Ninety-two UCTD patients and 92 age- and sex-matched controls with no malignancy, chronic infections, autoimmune disease nor family history of autoimmune diseases were investigated for exposure to adjuvants...
March 22, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28327616/genetic-control-of-autophagy-underlies-pathogenesis-of-inflammatory-bowel-disease
#5
REVIEW
K G Lassen, R J Xavier
Autophagy contributes to cellular homeostasis in the face of nutrient deprivation and other cellular stresses. Cell type-specific functions for autophagy are critical in maintaining homeostasis at both the tissue level and at the whole-organism level. Recent work has highlighted the ways in which human genetic variants modulate autophagy to alter epithelial and immune responses in inflammatory bowel disease.Mucosal Immunology advance online publication 22 March 2017. doi:10.1038/mi.2017.18.
March 22, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28326636/il4r%C3%AE-and-adam33-as-genetic-markers-in-asthma-exacerbations-and-type-2-inflammatory-endotype
#6
Hironobu Sunadome, Hisako Matsumoto, Guergana Petrova, Yoshihiro Kanemitsu, Yuji Tohda, Takahiko Horiguchi, Hideo Kita, Kazunobu Kuwabara, Keisuke Tomii, Kojiro Otsuka, Masaki Fujimura, Noriyuki Ohkura, Katsuyuki Tomita, Akihito Yokoyama, Hiroshi Ohnishi, Yasutaka Nakano, Tetsuya Oguma, Soichiro Hozawa, Tadao Nagasaki, Isao Ito, Tsuyoshi Oguma, Hideki Inoue, Tomoko Tajiri, Toshiyuki Iwata, Yumi Izuhara, Junya Ono, Shoichiro Ohta, Tomomitsu Hirota, Mayumi Tamari, Tetsuji Yokoyama, Akio Niimi, Kenji Izuhara, Michiaki Mishima
BACKGROUND: Genetic markers of susceptibility to asthma exacerbations in adults remain unclear. OBJECTIVE: To identify genetic markers of asthma exacerbations, particularly in patients with type-2 inflammatory endotype. METHODS: In this observational study of patients enrolled in the Kinki Hokuriku Airway disease Conference multicenter study, frequency of exacerbations requiring systemic corticosteroids during 2 years after enrolment and associated risk factors were determined...
March 22, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28326544/personalized-genetics-of-the-cholinergic-blockade-of-neuroinflammation
#7
REVIEW
Alon Simchovitz, Michael T Heneka, Hermona Soreq
Acetylcholine signaling is essential for cognitive functioning and blocks inflammation. To maintain homeostasis, cholinergic signaling is subjected to multi-leveled and bidirectional regulation by both proteins and non-coding microRNAs ('CholinomiRs'). CholinomiRs coordinate the cognitive and inflammatory aspects of cholinergic signaling by targeting major cholinergic transcripts including the acetylcholine hydrolyzing enzyme acetylcholinesterase (AChE). Notably, AChE inhibitors are the only currently approved line of treatment for Alzheimer's disease patients...
March 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28325361/warthin-like-papillary-renal-cell-carcinoma-clinicopathologic-morphologic-immunohistochemical-and-molecular-genetic-analysis-of-11-cases
#8
Faruk Skenderi, Monika Ulamec, Tomas Vanecek, Petr Martinek, Reza Alaghehbandan, Maria Pane Foix, Iva Babankova, Delia Perez Montiel, Isabel Alvarado-Cabrero, Marian Svajdler, Pavol Dubinský, Dana Cempirkova, Michal Pavlovsky, Semir Vranic, Ondrej Daum, Ondrej Ondic, Kristyna Pivovarcikova, Kvetoslava Michalova, Milan Hora, Pavla Rotterova, Adela Stehlikova, Martin Dusek, Michal Michal, Ondrej Hes
Oncocytic papillary renal cell carcinoma (PRCC) is a distinct subtype of PRCC, listed as a possible new variant of PRCC in the 2016 WHO classification. It is composed of papillae aligned by large single-layered eosinophilic cells showing linearly arranged oncocytoma-like nuclei. We analyzed clinicopathologic, morphologic, immunohistochemical and molecular-genetic characteristics of 11 oncocytic PRCCs with prominent tumor lymphocytic infiltrate, morphologically resembling Warthin's tumor. The patients were predominantly males (8/11, 73%), with an average age of 59years (range 14-76), and a mean tumor size of 7cm (range 1-22cm)...
April 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28325214/antibody-based-cancer-therapy-successful-agents-and-novel-approaches
#9
D Hendriks, G Choi, M de Bruyn, V R Wiersma, E Bremer
Since their discovery, antibodies have been viewed as ideal candidates or "magic bullets" for use in targeted therapy in the fields of cancer, autoimmunity, and chronic inflammatory disorders. A wave of antibody-dedicated research followed, which resulted in the clinical approval of a first generation of monoclonal antibodies for cancer therapy such as rituximab (1997) and cetuximab (2004), and infliximab (2002) for the treatment of autoimmune diseases. More recently, the development of antibodies that prevent checkpoint-mediated inhibition of T cell responses invigorated the field of cancer immunotherapy...
2017: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/28322578/interview-with-amr-h-sawalha-epigenetics-and-autoimmunity
#10
Amr H Sawalha
Amr H Sawalha is Professor of Internal Medicine and Marvin and Betty Danto Research Professor of Connective Tissue Research at the University of Michigan, Department of Internal Medicine, Division of Rheumatology. He also holds faculty appointments at the Center for Computational Medicine and Bioinformatics and the Graduate Program in Immunology at the University of Michigan. He was recently appointed as Guest Professor at Central South University in Changsha, China. He received his medical degree from Jordan University of Science and Technology and completed his residency training in internal medicine at the University of Oklahoma Health Sciences Center, and his fellowship in rheumatology at the University of Michigan...
March 21, 2017: Epigenomics
https://www.readbyqxmd.com/read/28320483/human-and-feline-adipose-derived-mesenchymal-stem-cells-have-comparable-phenotype-immunomodulatory-functions-and-transcriptome
#11
Kaitlin C Clark, Fernando A Fierro, Emily Mills Ko, Naomi J Walker, Boaz Arzi, Clifford G Tepper, Heather Dahlenburg, Andrew Cicchetto, Amir Kol, Lyndsey Marsh, William J Murphy, Nasim Fazel, Dori L Borjesson
BACKGROUND: Adipose-derived mesenchymal stem cells (ASCs) are a promising cell therapy to treat inflammatory and immune-mediated diseases. Development of appropriate pre-clinical animal models is critical to determine safety and attain early efficacy data for the most promising therapeutic candidates. Naturally occurring diseases in cats already serve as valuable models to inform human clinical trials in oncologic, cardiovascular, and genetic diseases. The objective of this study was to complete a comprehensive side-by-side comparison of human and feline ASCs, with an emphasis on their immunomodulatory capacity and transcriptome...
March 20, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28320454/mitigation-of-disease-and-treatment-related-risks-in-patients-with-psoriatic-arthritis
#12
REVIEW
Martin Bergman, Amy Lundholm
Psoriatic arthritis is a part of the family of diseases referred to as spondyloarthropathies, a diverse group of chronic inflammatory disorders with common clinical, radiographic, and genetic features. Peripheral arthritis is the most common symptom of psoriatic arthritis and patients also frequently experience involvement of the entheses, spine, skin, and nails. Due to the diverse clinical spectrum of disease severity, tissues affected, and associated comorbidities, the treatment of psoriatic arthritis can be challenging and it is necessary to mitigate risks associated with both the disease and its treatment...
March 20, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28320072/constitutive-androstane-receptor-regulates-the-intestinal-mucosal-response-to-injury
#13
Grace M Hudson, Kyle L Flannigan, Sarah L Erickson, Fernando A Vicentini, Alexandra Zamponi, Christina L Hirota, Laurie Alston, Christophe Altier, Subrata Ghosh, Kevin P Rioux, Sridhar Mani, Thomas K Chang, Simon A Hirota
BACKGROUND AND PURPOSE: The pathogenesis of the inflammatory bowel diseases(IBD), composed of Crohn's disease(CD) and ulcerative colitis(UC), involves aberrant interactions between a genetically susceptible individual, their microbiota and environmental factors. Alterations in xenobiotic receptor expression and function are associated with increased risk for IBD. In the current study, we assessed the role of the constitutive androstane receptor(CAR), a xenobiotic receptor closely related to the pregnane X receptor, in the regulation of intestinal mucosal homeostasis...
March 20, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28319289/clinical-characteristics-of-psoriasis-in-inflammatory-bowel-diseases-patients
#14
L Pescitelli, M Gianotta, F Ricceri, L Lazzeri, M Milla, F Prignano
Crohn's Disease (CD) and Ulcerative Colitis (UC) account for most cases of Inflammatory Bowel Diseases (IBD). These diseases share common genetic abnormalities and pathogenic mechanisms with other immune-mediated diseases including Psoriasis (Pso) [1, 2]. A recent study investigating specifics Pso characteristics in IBD patients (phenotype, severity) revealed that in IBD patients the frequency of plaque-type Pso, nail Pso, Psoriatic Arthritis and severe Pso seems to be lower compared with non-IBD patients [3]...
March 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28318085/inflammatory-double-hit-model-of-temporomandibular-joint-disorder-with-elevated-ccl2-cxcl9-cxcl10-rantes-and-behavioural-hypersensitivity-in-tnfr1-r2-mice
#15
S L McIlwrath, R Nesemeier, F Ma, H S Oz, L Zhang, K N Westlund
BACKGROUND: Patients with temporomandibular joint disorders (TMD), reactive arthritis and rheumatoid arthritis often have combined etiology of hereditary and microenvironmental factors contributing to joint pain. Multiple clinical and animal studies indicate 'double-hit' inflammatory insults can cause chronic inflammation. The first inflammatory insult primes the immune system and subsequent insults elicit amplified responses. The present 'double hit' study produced a chronic orofacial pain model in mice with genetic deletion of both TNFα receptors (TNFR1/R2-/-), investigating the main nociceptive signalling pathways in comparisons to wild type mice...
March 20, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28314735/non-alcoholic-fatty-liver-disease-and-its-relationship-with-cardiovascular-disease-and-other-extrahepatic-diseases
#16
REVIEW
Leon A Adams, Quentin M Anstee, Herbert Tilg, Giovanni Targher
Key physiological functions of the liver, including glucose and lipid metabolism, become disturbed in the setting of non-alcoholic fatty liver disease (NAFLD) and may be associated with a systemic inflammatory 'milieu' initiated in part by liver-secreted cytokines and molecules. Consequently, the pathophysiological effects of NAFLD extend beyond the liver with a large body of clinical evidence demonstrating NAFLD to be independently associated with both prevalent and incident cardiovascular disease (CVD), chronic kidney disease (CKD) and type 2 diabetes mellitus (T2DM)...
March 17, 2017: Gut
https://www.readbyqxmd.com/read/28303724/non-alcoholic-fatty-liver-disease-nafld-pathogenesis-classification-and-effect-on-drug-metabolizing-enzymes-and-transporters
#17
Enoch Cobbina, Fatemeh Akhlaghi
Non-alcoholic fatty liver disease (NAFLD) is a spectrum of liver disorders. It is defined by the presence of steatosis in more than 5% of hepatocytes with little or no alcohol consumption. Insulin resistance, the metabolic syndrome or type 2 diabetes and genetic variants of PNPLA3 or TM6SF2 seem to play a role in the pathogenesis of NAFLD. The pathological progression of NAFLD follows tentatively a "three-hit" process namely steatosis, lipotoxicity and inflammation. The presence of steatosis, oxidative stress and inflammatory mediators like TNF-α and IL-6 has been implicated in the alterations of nuclear factors such as CAR, PXR, PPAR-α in NAFLD...
March 17, 2017: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/28302725/ankyrin-repeat-and-zinc-finger-domain-containing-1-mutations-are-associated-with-infantile-onset-inflammatory-bowel-disease
#18
Désirée Y van Haaften-Visser, Magdalena Harakalova, Enric Mocholi, Joris M van Montfrans, Abdul Elkadri, Ester Rieter, Karoline Fiedler, Peter M van Hasselt, Emily M M Triffaux, Mieke M van Haelst, Isaac J Nijman, Wigard P Kloosterman, Edward E S Nieuwenhuis, Aleixo M Muise, Edwin Cuppen, Roderick H J Houwen, Paul J Coffer
Infantile-onset inflammatory bowel disease (IO IBD) is an invalidating illness with an onset before two years of age and has a complex pathophysiology in which genetic factors are important. Homozygosity mapping and whole exome sequencing in an IO IBD patient and subsequent sequencing of the candidate gene in twelve additional IO IBD patients revealed two patients with two mutated Ankyrin Repeat and Zinc Finger Domain containing 1 (ANKZF1) alleles (homozygous ANKZF1 R585Q mutation and compound heterozygous ANKZF1 E152K and V32_Q87del mutations respectively) and two patients with one mutated ANKZF1 allele...
March 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28301579/a-novel-model-of-colitis-associated-cancer-in-samp1-yitfc-mice-with-crohn-s-disease-like-ileitis
#19
Paola Menghini, Luca Di Martino, Loris R Lopetuso, Daniele Corridoni, Joshua C Webster, Wei Xin, Kristen O Arseneau, Minh Lam, Theresa T Pizarro, Fabio Cominelli
Patients with inflammatory bowel disease (IBD) are at increased risk for developing colorectal cancer. Evidence suggests that colonic dysplasia and colitis-associated cancer (CAC) are often linked to repeated cycles of epithelial cell injury and repair in the context of chronic production of inflammatory cytokines. Several mouse models of CAC have been proposed, including chemical induction through exposure to dextran sulfate sodium (DSS) with the genotoxic agents azoxymethane (AOM), 1,2-dymethylhydrazine (DHM) or targeted genetic mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28301468/recessive-coding-and-regulatory-mutations-in-fblim1-underlie-the-pathogenesis-of-chronic-recurrent-multifocal-osteomyelitis-crmo
#20
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome sequencing, we detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents...
2017: PloS One
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