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Thornton, C

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https://www.readbyqxmd.com/read/28224043/pleiotropic-effect-of-a-novel-mutation-in-gcnt2-causing-congenital-cataract-and-a-rare-adult-i-blood-group-phenotype
#1
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton, Vincent Plagnol, Anthony T Moore, Alison J Hardcastle
Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28199798/the-hotel-study-clinical-and-health-service-effectiveness-in-a-cohort-of-homeless-or-marginally-housed-persons
#2
William G Honer, Alejandro Cervantes-Larios, Andrea A Jones, Fidel Vila-Rodriguez, Julio S Montaner, Howard Tran, Jimmy Nham, William J Panenka, Donna J Lang, Allen E Thornton, Talia Vertinsky, Alasdair M Barr, Ric M Procyshyn, Geoffrey N Smith, Tari Buchanan, Mel Krajden, Michael Krausz, G William MacEwan, Kristina M Gicas, Olga Leonova, Verena Langheimer, Alexander Rauscher, Krista Schultz
OBJECTIVE: The Hotel Study was initiated in Vancouver's Downtown East Side (DTES) neighborhood to investigate multimorbidity in homeless or marginally housed people. We evaluated the clinical effectiveness of existing, illness-specific treatment strategies and assessed the effectiveness of health care delivery for multimorbid illnesses. METHOD: For context, we mapped the housing locations of patients presenting for 552,062 visits to the catchment hospital emergency department (2005-2013)...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28192541/immune-driven-alterations-in-mucin-sulphation-is-an-important-mediator-of-trichuris-muris-helminth-expulsion
#3
Sumaira Z Hasnain, Paul A Dawson, Rohan Lourie, Peter Hutson, Hui Tong, Richard K Grencis, Michael A McGuckin, David J Thornton
Mucins are heavily glycosylated proteins that give mucus its gel-like properties. Moreover, the glycans decorating the mucin protein core can alter the protective properties of the mucus barrier. To investigate whether these alterations could be parasite-induced we utilized the Trichuris muris (T. muris) infection model, using different infection doses and strains of mice that are resistant (high dose infection in BALB/c and C57BL6 mice) or susceptible (high dose infection in AKR and low dose infection in BALB/c mice) to chronic infection by T...
February 13, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28184416/best-practices-for-the-management-of-local-regional-recurrent-chordoma-a-position-paper-by-the-chordoma-global-consensus-group
#4
S Stacchiotti, A Gronchi, P Fossati, T Akiyama, C Alapetite, M Baumann, J Y Blay, S Bolle, S Boriani, P Bruzzi, R Capanna, A Caraceni, R Casadei, V Colia, J Debus, T Delaney, A Desai, P Dileo, S Dijkstra, F Doglietto, A Flanagan, S Froelich, P A Gardner, H Gelderblom, Z L Gokaslan, R Haas, C Heery, N Hindi, P Hohenberger, F Hornicek, R Imai, L Jeys, R L Jones, B Kasper, A Kawai, M Krengli, A Leithner, I Logowska, J Martin Broto, D Mazzatenta, C Morosi, P Nicolai, O J Norum, S Patel, N Penel, P Picci, S Pilotti, S Radaelli, F Ricchini, P Rutkowski, S Scheipl, C Sen, E Tamborini, K A Thornton, B Timmermann, V Torri, P U Tunn, M Uhl, Y Yamada, D C Weber, D Vanel, P P Varga, C LA Vleggeert-Lankamp, P G Casali, J Sommer
No abstract text is available yet for this article.
February 9, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28158719/genome-wide-association-of-white-blood-cell-counts-in-hispanic-latino-americans-the-hispanic-community-health-study-study-of-latinos
#5
Deepti Jain, Chani J Hodonsky, Ursula M Schick, Jeanne V Morrison, Sharon Minnerath, Lisa Brown, Claudia Schurmann, Yongmei Liu, Paul L Auer, Cecelia A Laurie, Kent D Taylor, Brian Browning, George Papanicolaou, Sharon Browning, Ruth J F Loos, Kari E North, Bharat Thyagarajan, Cathy C Laurie, Timothy A Thornton, Tamar Sofer, Alexander P Reiner
No abstract text is available yet for this article.
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28151410/australian-aboriginal-children-with-otitis-media-have-reduced-antibody-titres-to-specific-nontypeable-haemophilus-influenzae-vaccine-antigens
#6
Ruth B Thornton, Lea-Ann S Kirkham, Karli J Corscadden, Selma P Wiertsema, Angela Fuery, B Jan Jones, Harvey L Coates, Shyan Vijayasekaran, Guicheng Zhang, Anthony Keil, Peter C Richmond
Indigenous populations experience high rates of otitis media (OM), with increased chronicity and severity compared to that experienced by their non-Indigenous counterparts. Data are lacking on immune responses to otopathogenic bacteria in these high-risk populations. Non-typeable Haemophilus influenzae (NTHi) is the predominant otopathogen in Australia. Currently no vaccines are licensed to target NTHi, however Protein D (PD) from NTHi is included as a carrier protein in the 10-valent pneumococcal conjugate vaccine PHiD10-CV, and other promising protein vaccine candidates exist, including outer membrane proteins P4 and P6...
February 1, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/28137830/admixture-mapping-identifies-an-amerindian-ancestry-locus-associated-with-albuminuria-in-hispanics-in-the-united-states
#7
Lisa A Brown, Tamar Sofer, Adrienne M Stilp, Leslie J Baier, Holly J Kramer, Ivica Masindova, Daniel Levy, Robert L Hanson, Ashley E Moncrieft, Susan Redline, Sylvia E Rosas, James P Lash, Jianwen Cai, Cathy C Laurie, Sharon Browning, Timothy Thornton, Nora Franceschini
Increased urine albumin excretion is highly prevalent in Hispanics/Latinos. Previous studies have found an association between urine albumin excretion and Amerindian ancestry in Hispanic/Latino populations. Admixture between racial/ethnic groups creates long-range linkage disequilibrium between variants with different allelic frequencies in the founding populations and it can be used to localize genes. Hispanic/Latino genomes are an admixture of European, African, and Amerindian ancestries. We leveraged this admixture to identify associations between urine albumin excretion (urine albumin-to-creatinine ratio [UACR]) and genomic regions harboring variants with highly differentiated allele frequencies among the ancestral populations...
January 30, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28118819/short-bowel-syndrome-results-in-increased-gene-expression-associated-with-proliferation-inflammation-bile-acid-synthesis-and-immune-system-activation-rna-sequencing-a-zebrafish-sbs-model
#8
Kathy A Schall, Matthew E Thornton, Mubina Isani, Kathleen A Holoyda, Xiaogang Hou, Ching-Ling Lien, Brendan H Grubbs, Tracy C Grikscheit
BACKGROUND: Much of the morbidity associated with short bowel syndrome (SBS) is attributed to effects of decreased enteral nutrition and administration of total parenteral nutrition (TPN). We hypothesized that acute SBS alone has significant effects on gene expression beyond epithelial proliferation, and tested this in a zebrafish SBS model. METHODS: In a model of SBS in zebrafish (laparotomy, proximal stoma, distal ligation, n = 29) or sham (laparotomy alone, n = 28) surgery, RNA-Seq was performed after 2 weeks...
January 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28117999/analysis-of-longissimus-thoracis-protein-expression-associated-with-variation-in-carcass-quality-grade-and-marbling-of-beef-cattle-raised-in-the-pacific-northwestern-united-states
#9
Kara J Thornton, Kalyan C Chapalamadugu, Eric M Eldredge, Gordon K Murdoch
Longissimus thoracis (LD) samples from 500 cattle were screened for protein expression differences relative to carcass quality grade. The LD of the top 5% (low prime and high choice, HQ) and bottom 5% (low select, LQ) carcasses were analyzed using two-dimensional difference gel electrophoresis and Western blot. Following initial screening, 11 candidate proteins were selected for Western blot analyses. Differentially expressed proteins were clustered into four groups: (1) heat shock proteins and oxidative protection, (2) sarcomeric proteins (muscle maturity and fiber type), (3) metabolism and energetics, and (4) miscellaneous proteins...
February 10, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28090672/a-powerful-statistical-framework-for-generalization-testing-in-gwas-with-application-to-the-hchs-sol
#10
Tamar Sofer, Ruth Heller, Marina Bogomolov, Christy L Avery, Mariaelisa Graff, Kari E North, Alex P Reiner, Timothy A Thornton, Kenneth Rice, Yoav Benjamini, Cathy C Laurie, Kathleen F Kerr
In genome-wide association studies (GWAS), "generalization" is the replication of genotype-phenotype association in a population with different ancestry than the population in which it was first identified. Current practices for declaring generalizations rely on testing associations while controlling the family-wise error rate (FWER) in the discovery study, then separately controlling error measures in the follow-up study. This approach does not guarantee control over the FWER or false discovery rate (FDR) of the generalization null hypotheses...
January 15, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28068978/effectiveness-of-the-yourcall%C3%A2-text-message-intervention-to-reduce-harmful-drinking-in-patients-discharged-from-trauma-wards-protocol-for-a-randomised-controlled-trial
#11
Shanthi Ameratunga, Bridget Kool, Sarah Sharpe, Papaarangi Reid, Arier Lee, Ian Civil, Gordon Smith, Vanessa Thornton, Matthew Walker, Robyn Whittaker
BACKGROUND: Behavioural brief interventions (BI) can support people to reduce harmful drinking but multiple barriers impede the delivery and equitable access to these. To address this challenge, we developed YourCall™, a novel short message service (SMS) text message intervention incorporating BI principles. This protocol describes a trial evaluating the effectiveness of YourCall™ (compared to usual care) in reducing hazardous drinking and alcohol related harm among injured adults who received in-patient care...
January 9, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28054598/antarctic-ice-sheet-discharge-driven-by-atmosphere-ocean-feedbacks-at-the-last-glacial-termination
#12
C J Fogwill, C S M Turney, N R Golledge, D M Etheridge, M Rubino, D P Thornton, A Baker, J Woodward, K Winter, T D van Ommen, A D Moy, M A J Curran, S M Davies, M E Weber, M I Bird, N C Munksgaard, L Menviel, C M Rootes, B Ellis, H Millman, J Vohra, A Rivera, A Cooper
Reconstructing the dynamic response of the Antarctic ice sheets to warming during the Last Glacial Termination (LGT; 18,000-11,650 yrs ago) allows us to disentangle ice-climate feedbacks that are key to improving future projections. Whilst the sequence of events during this period is reasonably well-known, relatively poor chronological control has precluded precise alignment of ice, atmospheric and marine records, making it difficult to assess relationships between Antarctic ice-sheet (AIS) dynamics, climate change and sea level...
January 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28054251/cirrhosis-and-liver-transplantation-in-patients-co-infected-with-hiv-and-hepatitis-b-or-c-an-observational-cohort-study
#13
Charlotte Warren-Gash, Kate Childs, Alicia Thornton, Sanjay Bhagani, Shirin Demma, Ankur Srivastava, Clifford Leen, Kosh Agarwal, Alison J Rodger, Caroline A Sabin
This study assessed the likelihood of referral for liver transplantation assessment in a prospective cohort of patients co-infected with HIV and hepatitis B or C with complications of cirrhosis. There were 141 co-infected patients from 11 UK centres with at least one complication of cirrhosis recorded (either decompensation or hepatocellular carcinoma) out of 772 identified with cirrhosis and/or HCC. Only 23 of these 141 (16.3%) were referred for liver transplantation assessment, even though referral is recommended for co-infected patients after the first decompensation episode...
January 4, 2017: Infection
https://www.readbyqxmd.com/read/28039329/a-genome-wide-interaction-analysis-of-tricyclic-tetracyclic-antidepressants-and-rr-and-qt-intervals-a-pharmacogenomics-study-from-the-cohorts-for-heart-and-aging-research-in-genomic-epidemiology-charge-consortium
#14
Raymond Noordam, Colleen M Sitlani, Christy L Avery, James D Stewart, Stephanie M Gogarten, Kerri L Wiggins, Stella Trompet, Helen R Warren, Fangui Sun, Daniel S Evans, Xiaohui Li, Jin Li, Albert V Smith, Joshua C Bis, Jennifer A Brody, Evan L Busch, Mark J Caulfield, Yii-Der I Chen, Steven R Cummings, L Adrienne Cupples, Qing Duan, Oscar H Franco, Rául Méndez-Giráldez, Tamara B Harris, Susan R Heckbert, Diana van Heemst, Albert Hofman, James S Floyd, Jan A Kors, Lenore J Launer, Yun Li, Ruifang Li-Gao, Leslie A Lange, Henry J Lin, Renée de Mutsert, Melanie D Napier, Christopher Newton-Cheh, Neil Poulter, Alexander P Reiner, Kenneth M Rice, Jeffrey Roach, Carlos J Rodriguez, Frits R Rosendaal, Naveed Sattar, Peter Sever, Amanda A Seyerle, P Eline Slagboom, Elsayed Z Soliman, Nona Sotoodehnia, David J Stott, Til Stürmer, Kent D Taylor, Timothy A Thornton, André G Uitterlinden, Kirk C Wilhelmsen, James G Wilson, Vilmundur Gudnason, J Wouter Jukema, Cathy C Laurie, Yongmei Liu, Dennis O Mook-Kanamori, Patricia B Munroe, Jerome I Rotter, Ramachandran S Vasan, Bruce M Psaty, Bruno H Stricker, Eric A Whitsel
BACKGROUND: Increased heart rate and a prolonged QT interval are important risk factors for cardiovascular morbidity and mortality, and can be influenced by the use of various medications, including tricyclic/tetracyclic antidepressants (TCAs). We aim to identify genetic loci that modify the association between TCA use and RR and QT intervals. METHODS AND RESULTS: We conducted race/ethnic-specific genome-wide interaction analyses (with HapMap phase II imputed reference panel imputation) of TCAs and resting RR and QT intervals in cohorts of European (n=45 706; n=1417 TCA users), African (n=10 235; n=296 TCA users) and Hispanic/Latino (n=13 808; n=147 TCA users) ancestry, adjusted for clinical covariates...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28031178/otitis-prone-children-produce-functional-antibodies-to-pneumolysin-and-pneumococcal-polysaccharides
#15
Lea-Ann S Kirkham, Selma P Wiertsema, Karli J Corscadden, Tulia Mateus, Gemma L Mullaney, Guicheng Zhang, Peter C Richmond, Ruth B Thornton
BACKGROUND: The pneumococcus is a major otitis media (OM) pathogen but data are conflicting on whether otitis-prone children have impaired humoral immunity to pneumococcal antigens. We and others have shown that otitis-prone and healthy children have similar antibody titres to pneumococcal proteins and polysaccharides (vaccine and non-vaccine type), however the quality of antibodies from otitis-prone children has not been investigated. Antibody function, rather than titre, is considered to better correlate with protection from pneumococcal disease...
December 28, 2016: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/28027985/characterization-of-basic-immune-function-parameters-in-the-fathead-minnow-pimephales-promelas-a-common-model-in-environmental-toxicity-testing
#16
Leah M Thornton, Meriel C LeSueur, Alexandra T Yost, Dane A Stephens, James T Oris, Marlo K Sellin Jeffries
The fathead minnow (Pimephales promelas) is an environmental sentinel species, commonly used in toxicity testing. However, there is a lack of data regarding basic immune function in this species. To improve the usefulness of the fathead minnow as a model for basic immune function and immunotoxicity, this study sought to 1) compare the differential expression of immune function genes in naïve fathead minnows and 2) determine the effects of pathogen exposure on immune gene expression and spleen index. To accomplish this, kidney, spleen and liver tissue were collected three days post injection (dpi) from adult male fathead minnows from each of the following groups: 1) uninjected control 2) sham-injected (Hank's balanced salt solution) and 3) pathogen-injected (Yersinia ruckeri)...
February 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28012512/no-evidence-for-impaired-humoral-immunity-to-pneumococcal-proteins-in-australian-aboriginal-children-with-otitis-media
#17
Ruth B Thornton, Lea-Ann S Kirkham, Karli J Corscadden, Harvey L Coates, Shyan Vijayasekaran, Jessica Hillwood, Sophie Toster, Phillipa Edminston, Guicheng Zhang, Anthony Keil, Peter C Richmond
BACKGROUND: The Australian Aboriginal population experiences disproportionately high rates of otitis media (OM). Streptococcus pneumoniae is one of the main pathogens responsible for OM and currently no vaccine offering cross strain protection exists. Vaccines consisting of conserved antigens to S. pneumoniae may reduce the burden of OM in high-risk populations; however no data exists examining naturally acquired antibody in Aboriginal children with OM. METHODS: Serum and salivary IgA and IgG were measured against the S...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28000743/multi-scale-porosity-tio2-scaffolds-grown-by-innovative-sputtering-methods-for-high-throughput-hybrid-photovoltaics
#18
Salvatore Sanzaro, Emanuele Smecca, Giovanni Mannino, Corrado Bongiorno, Giovanna Pellegrino, Fortunato Neri, Graziella Malandrino, Maria Rita Catalano, Guglielmo Guido Condorelli, Rosabianca Iacobellis, Luisa De Marco, Corrado Spinella, Antonino La Magna, Alessandra Alberti
We propose an up-scalable, reliable, contamination-free, rod-like TiO2 material grown by a new method based on sputtering deposition concepts which offers a multi-scale porosity, namely: an intra-rods nano-porosity (1-5 nm) arising from the Thornton's conditions and an extra-rods meso-porosity (10-50 nm) originating from the spatial separation of the Titanium and Oxygen sources combined with a grazing Ti flux. The procedure is simple, since it does not require any template layer to trigger the nano-structuring, and versatile, since porosity and layer thickness can be easily tuned; it is empowered by the lack of contaminations/solvents and by the structural stability of the material (at least) up to 500 °C...
December 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27995962/engineering-the-surface-properties-of-a-human-monoclonal-antibody-prevents-self-association-and-rapid-clearance-in-vivo
#19
Claire L Dobson, Paul W A Devine, Jonathan J Phillips, Daniel R Higazi, Christopher Lloyd, Bojana Popovic, Joanne Arnold, Andrew Buchanan, Arthur Lewis, Joanne Goodman, Christopher F van der Walle, Peter Thornton, Lisa Vinall, David Lowne, Anna Aagaard, Lise-Lotte Olsson, Anna Ridderstad Wollberg, Fraser Welsh, Theodoros K Karamanos, Clare L Pashley, Matthew G Iadanza, Neil A Ranson, Alison E Ashcroft, Alistair D Kippen, Tristan J Vaughan, Sheena E Radford, David C Lowe
Uncontrolled self-association is a major challenge in the exploitation of proteins as therapeutics. Here we describe the development of a structural proteomics approach to identify the amino acids responsible for aberrant self-association of monoclonal antibodies and the design of a variant with reduced aggregation and increased serum persistence in vivo. We show that the human monoclonal antibody, MEDI1912, selected against nerve growth factor binds with picomolar affinity, but undergoes reversible self-association and has a poor pharmacokinetic profile in both rat and cynomolgus monkeys...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27995742/tracking-the-amphibian-pathogens-batrachochytrium-dendrobatidis-and-batrachochytrium-salamandrivorans-using-a-highly-specific-monoclonal-antibody-and-lateral-flow-technology
#20
Michael J Dillon, Andrew E Bowkett, Michael J Bungard, Katie M Beckman, Michelle F O'Brien, Kieran Bates, Matthew C Fisher, Jamie R Stevens, Christopher R Thornton
The fungus Batrachochytrium dendrobatidis (Bd) causes chytridiomycosis, a lethal epizootic disease of amphibians. Rapid identification of the pathogen and biosecurity is essential to prevent its spread, but current laboratory-based tests are time-consuming and require specialist equipment. Here, we describe the generation of an IgM monoclonal antibody (mAb), 5C4, specific to Bd as well as the related salamander and newt pathogen Batrachochytrium salamandrivorans (Bsal). The mAb, which binds to a glycoprotein antigen present on the surface of zoospores, sporangia and zoosporangia, was used to develop a lateral-flow assay (LFA) for rapid (15 min) detection of the pathogens...
December 19, 2016: Microbial Biotechnology
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