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Justyna A Karolak, Tomasz Gambin, Jose A Pitarque, Andrea Molinari, Shalini Jhangiani, Pawel Stankiewicz, James R Lupski, Marzena Gajecka
Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing to reduce the number of candidate genes at the 5q31.1-q35.3 locus and to prioritize other potentially relevant variants in an Ecuadorian family with KTCN. We applied WES in two affected KTCN individuals from the Ecuadorian family that showed a suggestive linkage between the KTCN phenotype and the 5q31...
October 5, 2016: European Journal of Human Genetics: EJHG
Vahideh Alinejad, Mohammad Hossein Somi, Behzad Baradaran, Parvin Akbarzadeh, Fatemeh Atyabi, Hanif Kazerooni, Hosein Samadi Kafil, Leili Aghebati Maleki, Homayoon Siah Mansouri, Mehdi Yousefi
Overexpression of IL17RB is associated with poor prognosis and short survival of the breast cancer patients.IL17RB/IL17B signaling triggers a substantial increase in the cell growth, proliferation and migration through the activation of NF-κB as well as the up-regulation of the Bcl-2. In this study we designed carboxymethyl dextran (CMD) Chitosan nanoparticles (ChNPs) to encapsulated IL17RB siRNA and doxorubicin (DOX) as an anticancer drug. Then we investigated the efficiency of the simultaneous delivery of drug/siRNA on viability and gene expression of MDA-MB361 cell lines...
June 30, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Antonis Vlismas, Ritsa Bletsa, Despina Mavrogianni, Georgina Mamali, Maria Pergamali, Vasiliki Dinopoulou, George Partsinevelos, Peter Drakakis, Dimitris Loutradis, Ann A Kiessling
Previous microarray analyses of RNAs from 8-cell (8C) human embryos revealed a lack of cell cycle checkpoints and overexpression of core circadian oscillators and cell cycle drivers relative to pluripotent human stem cells [human embryonic stem cells/induced pluripotent stem (hES/iPS)] and fibroblasts, suggesting growth factor independence during early cleavage stages. To explore this possibility, we queried our combined microarray database for expression of 487 growth factors and receptors. Fifty-one gene elements were overdetected on the 8C arrays relative to hES/iPS cells, including 14 detected at least 80-fold higher, which annotated to multiple pathways: six cytokine family (CSF1R, IL2RG, IL3RA, IL4, IL17B, IL23R), four transforming growth factor beta (TGFB) family (BMP6, BMP15, GDF9, ENG), one fibroblast growth factor (FGF) family [FGF14(FH4)], one epidermal growth factor member (GAB1), plus CD36, and CLEC10A...
January 15, 2016: Stem Cells and Development
Mangalathu S Rajeevan, Irina Dimulescu, Janna Murray, Virginia R Falkenberg, Elizabeth R Unger
Recent evidence suggests immune and inflammatory alterations are important in chronic fatigue syndrome (CFS). This study was done to explore the association of functionally important genetic variants in inflammation and immune pathways with CFS. Peripheral blood DNA was isolated from 50 CFS and 121 non-fatigued (NF) control participants in a population-based study. Genotyping was performed with the Affymetrix Immune and Inflammation Chip that covers 11K single nucleotide polymorphisms (SNPs) following the manufacturer's protocol...
August 2015: Human Immunology
Jinquan Cai, Wei Zhang, Pei Yang, Yinyan Wang, Mingyang Li, Chuanbao Zhang, Zheng Wang, Huimin Hu, Yanwei Liu, Qingbin Li, Jinchong Wen, Bo Sun, Xiaofeng Wang, Tao Jiang, Chuanlu Jiang
BACKGROUND: Glioblastomas (GBM) are comprised of a heterogeneous population of tumor cells, immune cells, and extracellular matrix. Interactions among these different cell types and pro-/anti-inflammatory cytokines may promote tumor development and progression. AIMS: The objective of this study was to develop a cytokine-related gene signature to improve outcome prediction for patients with primary GBM. METHODS: Here, we used Cox regression and risk-score analysis to develop a cytokine-related gene signature in primary GBMs from the whole transcriptome sequencing profile of the Chinese Glioma Genome Atlas (CGGA) database (n=105)...
2015: PloS One
Lohitash Karumbaiah, Tarun Saxena, David Carlson, Ketki Patil, Radhika Patkar, Eric A Gaupp, Martha Betancur, Garrett B Stanley, Lawrence Carin, Ravi V Bellamkonda
Intracortical electrodes record neural signals directly from local populations of neurons in the brain, and conduct them to external electronics that control prosthetics. However, the relationship between electrode design, defined by shape, size and tethering; and long-term (chronic) stability of the neuron-electrode interface is poorly understood. Here, we studied the effects of various commercially available intracortical electrode designs that vary in shape (cylindrical, planar), size (15 μm, 50 μm and 75 μm), and tethering [electrode connections to connector with (tethered) and without tethering cable (untethered)] using histological, transcriptomic, and electrophysiological analyses over acute (3 day) and chronic (12 week) timepoints...
November 2013: Biomaterials
Zhanlong Shen, Yingjiang Ye, Tuuli Kauttu, Hanna Seppänen, Sanna Vainionpää, Shan Wang, Harri Mustonen, Pauli Puolakkainen
Kindlin-2 is a novel focal adhesion gene mediating the cell-extracellular matrix (ECM) adhesion. Tumor-associated macrophages (TAMs) play an important role in linking chronic inflammation to cancer progression. Both kindlin-2 and TAMs have been found to promote the invasion of gastric cancer cells in our previous studies. However, the correlation between kindlin-2 and TAMs remains unclear. Real-time RT-PCR was used to investigate kindlin-2 expression in the AGS, NCI and Hs-746T gastric cancer cell lines co-cultured with TAMs under normal or hypoxic conditions...
February 2013: Oncology Reports
Qianglin Duan, Wei Lv, Lemin Wang, Zhu Gong, Qiang Wang, Haoming Song, Hao Wang
Few studies have investigated the changes of Th1- and Th2-type cytokines in pulmonary embolism (PE) patients. In this study, the gene expression of interleukins and the balance of Th1- and Th2-type cytokines in the peripheral blood mononuclear cells (PBMCs) of PE patients and controls were investigated. A total of 20 PE patients and 20 gender- and age-matched controls were included in the study. Human cDNA microarray analysis was used to detect the differences in cytokine gene expression between the two groups and a random variance model corrected t-test was used to analyze the statistical data...
January 2013: Molecular Medicine Reports
Frank Martiniuk, Jerome Giovinazzo, Ainah U Tan, Rozana Shahidullah, Patrick Haslett, Gilla Kaplan, William R Levis
BACKGROUND: Leprosy was the first disease classified according to the thymus derived T-cell in the 1960s and the first disease classified by the cytokine profile as intact interferon-γ (IFN-γ) and interleukin-2 (IL2) or TH1 (tuberculoid) and deficient IFN-γ and IL2 or TH2 (lepromatous), in the 1980s. OBJECTIVE: In the present study, we set out to explore the T helper 17 (TH17) lymphocyte subset, the hallmark of T-cell plasticity, in skin biopsies from patients with erythema nodosum leprosum (ENL) who were treated with thalidomide...
May 2012: Journal of Drugs in Dermatology: JDD
Safiye Aktaş, Zeynep Zadeoğlulari, Pinar Erçetin, Nur Olgun
BACKGROUND/AIMS: Notch expression is not yet determined in hepatoblastoma. In this study the effect of chemotherapeutics (cisplatin, doxorubicin, cytosin arabinoside); differentiating agent (13 cis-retinoic acid) and apoptotic agents (5-aza-2'-deoxycytidine, arsenic trioxide) on notch expression in hepatoblastoma were evaluated. METHODOLOGY: After HepG2 cell line was cultured and the agents and their combinations were applied for 24 hour in pre-optimized 50% lethal doses, RNA isolation and cDNA converting, expression of 84 custom array genes of notch signaling pathway (SABiosciences, PAT059F-24) was determined by Real Time PCR...
July 2010: Hepato-gastroenterology
Mio Kawaguchi, Fumio Kokubu, Junichi Fujita, Shau-Ku Huang, Nobuyuki Hizawa
A new family of cytokines, the interleukin (IL)-17 family, has recently been defined, which reveals unique functions and distinct ligand-receptor signaling systems. This family contains six members, IL-17 (also called IL-17A), IL17B, IL-17C, IL-17D, IL-17E (IL-25) and IL-17F. The IL-17F gene was discovered in 2001, and is located on chromosome 6p12. Notably, among this family, IL-17F has been well characterized both in vitro and in vivo, and has been shown to have a pro-inflammatory role in asthma. IL-17F is clearly expressed in the airway of asthmatics and its expression level is correlated with disease severity...
December 2009: Inflammation & Allergy Drug Targets
S Yan, D Ma, M Ji, D Guo, J Dai, P Zhao, C Ji
Drug resistance is the major setback of acute myeloid leukemia (AML) therapy. Notch proteins have demonstrated functional regulation in cell proliferation, differentiation, and apoptosis and thus may affect drug resistance. Our study aimed to identify the Notch-related gene profile in drug-resistant AML cells and provide potential strategies for resistant AML therapy. 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay was conducted to detect the cytotoxicity of adriamycin toward K562 and drug-resistant K562/A02...
April 2010: International Journal of Laboratory Hematology
Mark N Pinkerton, David C Wescott, Benjamin J Gaffey, Kyle T Beggs, Trudy J Milne, Murray C Meikle
BACKGROUND AND OBJECTIVE: A role for cytokines and growth factors in mediating the cellular and molecular events involved in orthodontic tooth movement is well established. The focus to date, however, has been largely on individual mediators, rather than to study cytokines in terms of complex interacting networks. Our objective was to expand our knowledge of the cytokines and growth factors expressed by human periodontal ligament (PDL) cells and to identify new genes that are responsive to mechanical deformation...
June 2008: Journal of Periodontal Research
Yan Wang, Mingliang Zhang, Frank A Middleton, Jason A Horton, Meredith Pritchard, Joseph A Spadaro, Cornelia E Farnum, Timothy A Damron
INTRODUCTION: The growth plate response following radiotherapy is poorly understood. In particular, little is known about the changes in growth plate growth factors and cytokines following irradiation. The hypothesis was that a limited number of growth factors and cytokines play a role in growth plate proliferative and hypertrophic chondrocyte radio-recovery. METHODS: The right limbs of 6 rats were irradiated (17.5 Gy), leaving the left limbs as controls. Limbs were harvested 1 (n = 3) and 2 (n = 3) weeks later...
2007: Cells, Tissues, Organs
A W Ryan, J M Thornton, K Brophy, J S Daly, R M McLoughlin, C O'Morain, M Abuzakouk, N P Kennedy, F M Stevens, C Feighery, D Kelleher, R McManus
Genetic predisposition to coeliac disease (CD) is determined primarily by alleles at the HLA-DQB locus, and evidence exists implicating other major histocompatibility complex-linked genes (6p21) and the CTLA4 locus on chromosome 2q33. In addition, extensive family studies have provided strong, reproducible evidence for a susceptibility locus on chromosome 5q (CELIAC2). However, the gene responsible has not been identified. We have assayed genetic variation at the IL4, IL5, IL9, IL13, IL17B and NR3C1 (GR) loci, all of which are present on chromosome 5q and have potential or demonstrated involvement in autoimmune and/or inflammatory disease, in a sample of 409 CD cases and 355 controls...
February 2005: Tissue Antigens
A H Reddi
BACKGROUND: Articular cartilage homoeostasis is critical for joint function. The steady state homoeostasis of articular cartilage is a balance between anabolic morphogens such as cartilage derived morphogenetic proteins (CDMPs) and bone morphogenetic proteins (BMPs) of the BMP family and catabolic cytokines such as interleukin (IL)1, IL17, and tumour necrosis factor alpha. Although bone and articular cartilage are adjacent tissues, there is a profound difference in their regeneration potential...
November 2003: Annals of the Rheumatic Diseases
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