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https://www.readbyqxmd.com/read/28214954/association-of-toll-like-receptor-4-single-nucleotide-polymorphisms-asp299gly-and-thr399ile-with-the-risk-of-primary-open-angle-glaucoma
#1
Jose Navarro-Partida, Abril Bernardette Martinez-Rizo, Pedro Ramirez-Barrera, Jesus Bernardino Velazquez-Fernandez, Veronica A Mondragon-Jaimes, Arturo Santos-Garcia, Veronica Benites-Godinez
PURPOSE: Toll-like receptor 4 (TLR4) is a transmembrane receptor that mediates immune responses to exogenous and endogenous ligands. Previously, non-coding single nucleotide polymorphisms (SNPs) in the TLR4 gene were related to primary open angle glaucoma (POAG). This study was undertaken to investigate whether coding TLR4 Asp299Gly (rs4986790 A/G) and Thr399Ile (rs4986791 C/T) are associated with POAG in a Mexican population. METHODS: One hundred and eighty-seven unrelated Mexican patients with POAG (94 men and 95 women; mean age 66...
February 18, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28214896/the-genomic-landscape-of-pax5-ikzf1-and-cdkn2a-b-alterations-in-b-cell-precursor-acute-lymphoblastic-leukemia
#2
Zhishuo Ou, Maureen Sherer, Jane Casey, Heather A Bakos, Kathleen Vitullo, Jie Hu, Erika Friehling, Susanne M Gollin, Urvashi Surti, Svetlana A Yatsenko
We present a comprehensive comparison of PAX5,IKZF1, and CDKN2A/B abnormalities in 21 B-cell precursor acute lymphoblastic leukemia (B-ALL) patients studied by aCGH and gene-specific FISH assays. In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment. Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification...
February 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28214894/mechanical-loading-improves-tendon-bone-healing-in-a-rabbit-anterior-cruciate-ligament-reconstruction-model-by-promoting-proliferation-and-matrix-formation-of-mesenchymal-stem-cells-and-tendon-cells
#3
Fanglong Song, Dawei Jiang, Tianchen Wang, Yi Wang, Fengmei Chen, Guoxing Xu, Yifan Kang, Yinquan Zhang
BACKGROUND/AIMS: This study investigated the effect of mechanical stress on tendon-bone healing in a rabbit anterior cruciate ligament (ACL) reconstruction model as well as cell proliferation and matrix formation in co-culture of bone-marrow mesenchymal stem cells (BMSCs) and tendon cells (TCs). METHODS: The effect of continuous passive motion (CPM) therapy on tendon-bone healing in a rabbit ACL reconstruction model was evaluated by histological analysis, biomechanical testing and gene expressions at the tendon-bone interface...
February 16, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28214848/human-birth-weight-and-reproductive-immunology-testing-for-interactions-between-maternal-and-offspring-kir-and-hla-c-genes
#4
Michelle M Clark, Olympe Chazara, Eric M Sobel, Håkon K Gjessing, Per Magnus, Ashley Moffett, Janet S Sinsheimer
BACKGROUND/AIMS: Maternal and offspring cell contact at the site of placentation presents a plausible setting for maternal-fetal genotype (MFG) interactions affecting fetal growth. We test hypotheses regarding killer cell immunoglobulin-like receptor (KIR) and HLA-C MFG effects on human birth weight by extending the quantitative MFG (QMFG) test. METHODS: Until recently, association testing for MFG interactions had limited applications. To improve the ability to test for these interactions, we developed the extended QMFG test, a linear mixed-effect model that can use multi-locus genotype data from families...
February 18, 2017: Human Heredity
https://www.readbyqxmd.com/read/28214847/contribution-of-p62-to-phenotype-transition-of-coronary-arterial-myocytes-with-defective-autophagy
#5
Junxiang Bao, Guangbi Li, Xinxu Yuan, Pin-Lan Li, Erich Gulbins
BACKGROUND: Autophagy disorder contributes to dedifferentiation of arterial smooth muscle cells, but the mechanisms are poorly understood. Here, we sought to investigate the role of scaffolding adaptor p62/SQSTM1 (p62) in phenotype switching of mouse coronary arterial myocytes (CAMs) induced by CD38 gene deficiency or lysosomal dysfunction which blocks autophagic flux in the cells. METHODS: Protein expression was measured by western blot analysis and immunofluorescent staining...
February 3, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28214713/comparative-analysis-of-metagenomes-of-italian-top-soil-improvers
#6
Federica Gigliucci, Gianfranco Brambilla, Rosangela Tozzoli, Valeria Michelacci, Stefano Morabito
Biosolids originating from Municipal Waste Water Treatment Plants are proposed as top soil improvers (TSI) for their beneficial input of organic carbon on agriculture lands. Their use to amend soil is controversial, as it may lead to the presence of emerging hazards of anthropogenic or animal origin in the environment devoted to food production. In this study, we used a shotgun metagenomics sequencing as a tool to perform a characterization of the hazards related with the TSIs. The samples showed the presence of many virulence genes associated to different diarrheagenic E...
February 16, 2017: Environmental Research
https://www.readbyqxmd.com/read/28214601/the-inhibition-of-mating-in-phycomyces-blakesleeanus-by-light-is-dependent-on-the-mada-madb-complex-that-acts-in-a-sex-specific-manner
#7
Viplendra P S Shakya, Alexander Idnurm
Light is an environmental signal that influences reproduction in the Mucoromycotina fungi, as it does in many other species of fungi. Mating in Phycomyces blakesleeanus is inhibited by light, but the molecular mechanisms for this inhibition are uncharacterized. In this analysis, the role of the light-sensing MadA-MadB complex in mating was tested. The MadA-MadB complex is homologous to the Neurospora crassa White Collar complex. Three genes required for cell type determination in the sex locus or pheromone biosynthesis are transcriptionally-regulated by light and are controlled by MadA and MadB...
February 15, 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/28214557/quadruple-first-line-drug-resistance-in-mycobacterium-tuberculosis-in-vietnam-what-can-we-learn-from-genes
#8
Huy Quang Nguyen, Nhung Viet Nguyen, Lucie Contamin, Thanh Hoa Thi Tran, Thuong Thi Vu, Hung Van Nguyen, Ngoc Lan Thi Nguyen, Son Thai Nguyen, Anh Duc Dang, Anne-Laure Bañuls, Van Anh Thi Nguyen
In Vietnam, a country with high tuberculosis (137/100.000 population) and multidrug-resistant (MDR)-TB burdens (7.8/100.000 population), little is known about the molecular signatures of drug resistance in general and more particularly of second line drug (SLD) resistance. This study is specifically focused on Mycobacterium tuberculosis isolates resistant to four first-line drugs (FLDs) that make TB much more difficult to treat. The aim is to determine the proportion of SLD resistance in these quadruple drug resistant isolates and the genetic determinants linked to drug resistance to better understand the genetic processes leading to quadruple and extremely drug resistance (XDR)...
February 15, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28214551/effect-of-benzalkonium-chloride-on-trabecular-meshwork-cells-in-a-new-in-vitro-3d-trabecular-meshwork-model-for-glaucoma
#9
Meryem Bouchemi, Christophe Roubeix, Karima Kessal, Luisa Riancho, Anne-Laure Raveu, Hayet Soualmia, Christophe Baudouin, Françoise Brignole-Baudouin
PURPOSE: To validate a new culture model of primary human trabecular meshwork cells (p-hTMCs) using Matrigel®, in order to mimic in vitro 3D-TM organization, and to investigate the proinflammatory effect of benzalkonium chloride (BAK) in 3D p-hTMC cultures. METHODS: p-hTMCs, seeded onto Matrigel®-coated inserts were stimulated with BAK (10(-4)%), dexamethasone (DEX) (10(-6)M) or transforming growth factor-beta 2 (TGF-β2) (5ng/ml) for 48h and observed with confocal microscopy...
February 15, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28214472/bmp-12-activates-tenogenic-pathway-in-human-adipose-stem-cells-and-affects-their-immunomodulatory-and-secretory-properties
#10
Weronika Zarychta-Wiśniewska, Anna Burdzinska, Agnieszka Kulesza, Kamila Gala, Beata Kaleta, Katarzyna Zielniok, Katarzyna Siennicka, Marek Sabat, Leszek Paczek
BACKGROUND: Cell-based therapy is a treatment method in tendon injuries. Bone morphogenic protein 12 (BMP-12) possesses tenogenic activity and was proposed as a differentiating factor for stem cells directed to transplantation. However, BMPs belong to pleiotropic TGF-β superfamily and have diverse effect on cells. Therefore, the aim of this study was to determine if BMP-12 induces tenogenic differentiation of human adipose stem cells (hASCs) and how it affects other features of this population...
February 18, 2017: BMC Cell Biology
https://www.readbyqxmd.com/read/28214377/reciprocal-translocation-of-small-numbers-of-inbred-individuals-rescues-immunogenetic-diversity
#11
Catherine E Grueber, Jolene T Sutton, Sol Heber, James V Briskie, Ian G Jamieson, Bruce C Robertson
Genetic rescue can reduce inbreeding depression and increase fitness of small populations, even when the donor populations are highly inbred. In a recent experiment involving two inbred island populations of the South Island robin, Petroica australis, reciprocal translocations improved microsatellite diversity and individual fitness. While microsatellite loci may reflect patterns of genome-wide diversity, they generally do not indicate the specific genetic regions responsible for increased fitness. We tested the effectiveness of this reciprocal translocation for rescuing diversity of two immunogenetic regions: toll-like receptor (TLR) and major histocompatibility complex (MHC) genes...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28214222/necessity-to-critically-review-the-automatic-results-of-the-xpert-flu-assay
#12
Ilka Engelmann, Enagnon Kazali Alidjinou, Mouna Lazrek, Anny Dewilde, Didier Hober
While using the Xpert Flu assay we became aware of false-negative results. The study aimed to analyze the causes of these false-negative results. One hundred fifty-nine respiratory specimens were tested in the Xpert Flu assay and in multiplex reverse transcription-polymerase chain reactions (RT-PCRs) for respiratory viruses. Discordant specimens were tested in the Influenza A/B r-gene assay. One hundred fifty-two (96%) and 151 (95%) specimens yielded concordant results for influenza A and B, respectively. Fifteen specimens tested negative in the Xpert Flu assay and positive in a multiplex RT-PCR...
February 2, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28214221/relationship-between-the-melanocortin-1-receptor-mc1r-variant-r306ter-and-physiological-responses-to-mechanical-or-thermal-stimuli-in-labrador-retriever-dogs
#13
Tania E Perez, Katrina L Mealey, Neal S Burke, Tamara L Grubb, Michael H Court, Stephen A Greene
OBJECTIVE: Variants in the MC1R gene have been associated with red hair color and sensitivity to pain in humans. The study objective was to determine if a relationship exists between MC1R genotype and physiological thermal or mechanical nociceptive thresholds in Labrador Retriever dogs. STUDY DESIGN: Prospective experimental study. ANIMALS: Thirty-four Labrador Retriever dogs were included in the study following public requests for volunteers...
January 11, 2017: Veterinary Anaesthesia and Analgesia
https://www.readbyqxmd.com/read/28214212/primary-multiple-tumor-with-affection-of-the-thyroid-gland-uterus-urinary-bladder-mammary-gland-and-other-organs
#14
А Romaniuk, M Lyndin, V Smiyanov, Vl Sikora, A Rieznik, Y Kuzenko, H Budko, Yu Moskalenko, L Karpenko, Vol Sikora, O Gladchenko
BACKGROUND: Nowadays multiple primary tumor is characterized by growth and development of two or more tumors in one patient. The total world sickness rate ranges from 1% to 37%. The presence of four or more tumors in one patient is rare case and presented as casuistry. CASE PRESENTATION: We showed a case of multiple primary tumor with metahronic lesion of the thyroid, uterus and breast, followed by synchronous benign tumors of the subcutaneous fat, urinary bladder and gallbladder were considered...
January 19, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28214187/microbiological-analysis-antimicrobial-activity-and-heavy-metals-content-of-jordanian-ma-in-hot-springs-water
#15
Muhamad Ali K Shakhatreh, Jacob H Jacob, Emad I Hussein, Majed M Masadeh, Safwan M Obeidat, Abdul-Salam F Juhmani, Mutaz A Abd Al-Razaq
Ma'in hot springs are known as sites of balneotherapy. However, little is known about their microbiology and chemistry. In this study, we aim at evaluating the antimicrobial activity of Ma'in hot-springs water (MHSW), studying its microbiology, and determining its physicochemical properties including the heavy metals content. Therefore, water samples were collected from Ma'in hot springs and tested for antimicrobial activity using agar diffusion method. Water was then cultivated on nutrient agar to isolate and identify the dominant bacteria by chemical and molecular methods...
February 14, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28214066/identification-of-g-170g-a-and-g-332g-a-mutations-in-exon-3-of-leptin-gene-bcnl-and-cail-and-their-association-with-semen-quality-and-testicular-dimensions-in-sanjabi-rams
#16
Roya Bakhtiar, Alireza Abdolmohammadi, Hadi Hajarian, Zahra Nikousefat, Davood Kalantar-Neyestanaki
The purpose of this study was to investigate leptin gene polymorphisms and their relationships with the characteristics of sperm quality and testicular dimensions. Semen samples were collected from 96 Sanjabi rams during autumn and spring seasons over two years. Simultaneously, the dimensions of length, width and scrotal circumference were measured. Blood samples were taken from the jugular vein to extract DNA. PCR was performed to amplify a 463bp fragment including exon 3 of leptin gene. PCR products were digested by Bcnl and Cail restriction enzymes to identify 170G>A and 332G>A mutations in exon 3, respectively...
February 4, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/28214040/reinforcement-of-intestinal-epithelial-barrier-by-arabinoxylans-in-overweight-and-obese-subjects-a-randomized-controlled-trial-arabinoxylans-in-gut-barrier
#17
Bouke N Salden, Freddy J Troost, Ellen Wilms, Pilar Truchado, Ramiro Vilchez-Vargas, Dietmar H Pieper, Ruy Jáuregui, Massimo Marzorati, Tom van de Wiele, Sam Possemiers, Ad A Masclee
BACKGROUND & AIMS: Obesity and metabolic diseases are associated with alterations in microbial composition and impaired gut barrier. Previous in vitro and animal studies have shown that arabinoxylans (AX) have the potential to modulate gut microbiota and gut barrier and therefore could have a protective role. Primary aim of the study was to investigate the effect of AX on intestinal permeability. Secondary aims included the effect of AX on gene transcription and protein expression of tight junctions (TJ), intestinal microbiota composition and activity, immune response and metabolic markers in overweight and obese individuals...
February 3, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28214017/genetic-risk-factors-for-ovarian-cancer-and-their-role-for-endometriosis-risk
#18
Stefanie Burghaus, Peter A Fasching, Lothar Häberle, Matthias Rübner, Kathrin Büchner, Simon Blum, Anne Engel, Arif B Ekici, Arndt Hartmann, Alexander Hein, Matthias W Beckmann, Stefan P Renner
OBJECTIVE: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions. METHODS: In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis...
February 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28213976/enhancement-of-%C3%AE-globin-gene-expression-in-thalassemic-ivs2-654-induced-pluripotent-stem-cell-derived-erythroid-cells-by-modified-u7-snrna
#19
Phetcharat Phanthong, Suparerk Borwornpinyo, Narisorn Kitiyanant, Natee Jearawiriyapaisarn, Lalana Nuntakarn, Jirawat Saetan, Tiwaporn Nualkaew, Khanit Sa-Ngiamsuntorn, Usanarat Anurathapan, Andras Dinnyes, Yindee Kitiyanant, Suradej Hongeng
The therapeutic use of patient-specific induced pluripotent stem cells (iPSCs) is emerging as a potential treatment of β-thalassemia. Ideally, patient-specific iPSCs would be genetically corrected by various approaches to treat β-thalassemia including lentiviral gene transfer, lentivirus-delivered shRNA, and gene editing. These corrected iPSCs would be subsequently differentiated into hematopoietic stem cells and transplanted back into the same patient. In this article, we present a proof of principle study for disease modeling and screening using iPSCs to test the potential use of the modified U7 small nuclear (sn) RNA to correct a splice defect in IVS2-654 β-thalassemia...
February 18, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28213955/the-skin-barrier-function-gene-spink5-is-associated-with-challenge-proven-ige-mediated-food-allergy-in-infants
#20
Sarah E Ashley, Hern-Tze Tina Tan, Peter Vuillermin, Shyamali C Dharmage, Mimi L K Tang, Jennifer Koplin, Lyle C Gurrin, Adrian Lowe, Caroline Lodge, Anne-Louise Ponsonby, John Molloy, Pamela Martin, Melanie C Matheson, Richard Saffery, Katrina J Allen, Justine A Ellis, David Martino
BACKGROUND: A defective skin barrier is hypothesised to be an important route of sensitisation to dietary antigens, and may lead to food allergy in some children. Missense mutations in the Serine peptidase inhibitor kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE mediated food allergy. METHOD: We genotyped 71 'tag' single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kilobases (kb) including SPINK5 (~61kb) in n=722 (n=367 food allergic, n=199 food sensitised, tolerant and n=156 non-food allergic controls) 12-month infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge (OFC)...
February 18, 2017: Allergy
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