Edoardo D’Angelo, Matteo Fassan, Isacco Maretto, Salvatore Pucciarelli, Carlo Zanon, Maura Digito, Massimo Rugge, Donato Nitti, Marco Agostini,
... Fassan 3 , Isacco Maretto 1 , Salvatore Pucciarelli 1 , Carlo Zanon 4 , Maura Digito 1 , Massimo Rugge 3 , Donato ...
Tópico(s): Cancer Immunotherapy and Biomarkers
2016 - Impact Journals LLC | Oncotarget
Sanja Aveic, Marcella Pantile, Anke Seydel, Maria Rosaria Esposito, Carlo Zanon, Gary Li, Gian Paolo Tonini,
... 1 , Anke Seydel 1 , Maria Rosaria Esposito 1 , Carlo Zanon 1 , Gary Li 2 , Gian Paolo Tonini 1 ...
Tópico(s): Cell death mechanisms and regulation
2015 - Impact Journals LLC | Oncotarget
Marco Rastrelli, L Campana, Sara Valpione, Saveria Tropea, Antonio Zanon, Carlo Riccardo Rossi,
Hyperthermic isolated limb perfusion (HILP) is a locoregional treatment aimed at avoiding amputation in patients with advanced extremity soft tissue sarcomas (STS). Over the last 25 years, HILP procedure has been implemented to maximise its therapeutic ratio.A retrospective analysis including 117 patients who underwent HILP from 1989 to 2013 was performed. Three different drug schedules were applied: 1) doxorubicin (n = 47), 2) high dose (3-4 mg) tumour necrosis factor-alpha (TNF-α) plus doxorubicin (n = ...
Tópico(s): Vascular Tumors and Angiosarcomas
2015 - Taylor & Francis | International Journal of Hyperthermia
Franco Matías Escobar, María Carola Sabini, Silvia Zanon, Carlos E. Tonn, Liliana Sabini,
The methanolic extract of Verbascum thapsus was evaluated for its antiviral activity against the pseudorabies virus strain RC/79 (PrV), and also for its cytotoxic activity on Vero cells. The extract showed CC₅₀ values of 1100 µg mL⁻¹ and 1426 µg mL⁻¹ by NRU and MTT assays, respectively. The 50% inhibitory concentration of the extract for PrV plaque formation was determined at 35 µg mL⁻¹, and selectivity indices were 31.4 (NRU) and 40.7 (MTT). When cells were pre-treated with the extract prior to virus ...
Tópico(s): Natural product bioactivities and synthesis
2011 - Taylor & Francis | Natural Product Research
Susanna Mandruzzato, Samantha Solito, Erika Falisi, Samuela Francescato, Vanna Chiarion‐Sileni, Simone Mocellin, Antonio Zanon, Carlo Riccardo Rossi, Donato Nitti, Vincenzo Bronte, Paola Zanovello,
Abstract Myeloid-derived suppressor cells (MDSC) contribute to immune dysfunctions induced by tumors both in experimental models and patients. In mice, MDSC are phenotypically heterogeneous cells that vary in their surface markers, likely depending on soluble factors produced by different tumors. We recently described a subset of inflammatory monocytes with immunosuppressive properties that can be found within the tumor mass, blood, and lymphoid organs of tumor-bearing mice. These cells expressed ...
Tópico(s): Immune Response and Inflammation
2009 - American Association of Immunologists | The Journal of Immunology
Andrea Di Nisio, Maria Santa Rocca, Iva Šabović, Maurizio De Rocco Ponce, Christian Corsini, Diego Guidolin, Carlo Zanon, Laura Acquasaliente, Andrea Roberto Carosso, Luca De Toni, Carlo Foresta,
Female fecundity is finely regulated by hormonal signaling, representing a potential target for endocrine-disrupting chemicals. Among the chemicals of most concern are the perfluoroalkyl substances (PFAS), widely used in consumer goods, that are associated with adverse effects on reproductive health. In this context, the endometrium clearly represents an important fertility determining factor. The aim of this study was to investigate PFAS interference on hormonal endometrial regulation. This study ...
Tópico(s): Birth, Development, and Health
2019 - Elsevier BV | Chemosphere
Lisa Gambarotto, Samuele Metti, Martina Chrisam, Cristina Cerqua, Patrizia Sabatelli, Andrea Armani, Carlo Zanon, Marianna Spizzotin, Silvia Castagnaro, Flavie Strappazzon, Paolo Grumati, Matilde Cescon, Paola Braghetta, Eva Trevisson, Francesco Cecconi, Paolo Bonaldo,
Abstract Background Maintaining healthy mitochondria is mandatory for muscle viability and function. An essential surveillance mechanism targeting defective and harmful mitochondria to degradation is the selective form of autophagy called mitophagy. Ambra1 is a multifaceted protein with well‐known autophagic and mitophagic functions. However, the study of its role in adult tissues has been extremely limited due to the embryonic lethality caused by full‐body Ambra1 deficiency. Methods To establish ...
Tópico(s): Erythrocyte Function and Pathophysiology
2022 - Springer Science+Business Media | Journal of Cachexia Sarcopenia and Muscle
Víctor Resco de Dios, Àngel Cunill Camprubí, Núria Pérez-Zañón, Juan Carlos Peña, Edurne Martínez del Castillo, Marcos Rodrígues, Yinan Yao, Marta Yebra, Cristina Vega‐García, Matthias M. Boer,
Wildfires are becoming an increasing threat to many communities worldwide. There has been substantial progress towards understanding the proximal causes of increased fire activity in recent years at regional and national scales. However, subcontinental scale examinations of the commonalities and differences in the drivers of fire activity across different regions are rare in the Mediterranean zone of the European Union (EUMed). Here, we first develop a new classification of EUMed pyroregions, based ...
Tópico(s): Plant Water Relations and Carbon Dynamics
2021 - Elsevier BV | The Science of The Total Environment
Produção Nacional
Revisado por pares
Amanda Farias Gomes, Débora Duarte Moreira, Mariana Fabbro Zanon, Francisco Carlos Groppo, Francisco Haiter‐Neto, Deborah Queiroz Freitas,
The aim in this study was to evaluate the influence of skeletal class, facial type, and sex on soft tissue thickness (STT) of the craniofacial midline in a Brazilian subpopulation. Thus, 121 cone beam computed tomography (CBCT) scans (54 males and 67 females, age 21 to 40 yrs) composed the study sample. Patients were classified according to skeletal class (class I, II, and III) and facial type (brachycephalic, mesocephalic, and dolichocephalic), and STT was measured (mm) in 10 landmarks in the craniofacial ...
Tópico(s): Temporomandibular Joint Disorders
2020 - Elsevier BV | Legal Medicine
Elena Mariotto, Giampietro Viola, Carlo Zanon, Sanja Aveic,
The members of the BCL-2 associated athanogene (BAG) family participate in the regulation of a variety of interrelated physiological processes, such as autophagy, apoptosis, and protein homeostasis. Under normal circumstances, the six BAG members described in mammals (BAG1-6) principally assist the 70 kDa heat-shock protein (HSP70) in protein folding; however, their role as oncogenes is becoming increasingly evident. Deregulation of the BAG multigene family has been associated with cell transformation, ...
Tópico(s): Endoplasmic Reticulum Stress and Disease
2020 - Elsevier BV | Pharmacology & Therapeutics
Daniele Boso, Elena Rampazzo, Carlo Zanon, Silvia Bresolin, Francesca Maule, Elena Porcù, Alice Cani, Alessandro Della Puppa, Luca Trentin, Giuseppe Basso, Luca Persano,
HIF-1α has been suggested to interplay with Wnt signaling components in order to activate a neuronal differentiation process in both normal brain and glioblastoma (GBM).Based on these data, we explored the molecular mechanisms underlying the observed capability of GBM cells to acquire a neuronal phenotype upon Wnt signaling stimulation and how the microenvironment, particularly hypoxia, modulates this process.Methods: here, the employment of ChIP-seq techniques together with co-immunoprecipitation ...
Tópico(s): Cancer, Hypoxia, and Metabolism
2019 - Ivyspring International Publisher | Theranostics
Diana Corallo, Michael Donadon, Marcella Pantile, Viktoryia Sidarovich, Simona Cocchi, Michela Ori, Miriam De Sarlo, Simona Candiani, Chiara Frasson, Martin Distel, Alessandro Quattrone, Carlo Zanon, Giuseppe Basso, Gian Paolo Tonini, Sanja Aveic,
The RNA-binding protein LIN28B regulates developmental timing and determines stem cell identity by suppressing the let-7 family of microRNAs. Postembryonic reactivation of LIN28B impairs cell commitment to differentiation, prompting their transformation. In this study, we assessed the extent to which ectopic lin28b expression modulates the physiological behavior of neural crest cells (NCC) and governs their transformation in the trunk region of developing embryos. We provide evidence that the overexpression ...
Tópico(s): MicroRNA in disease regulation
2019 - Springer Nature | Cell Death and Differentiation
Matteo Zampini, Claudia Tregnago, Valéria Bisio, Luca Simula, Giulia Borella, Elena Manara, Carlo Zanon, Francesca Zonta, Valentina Serafin, Benedetta Accordi, Silvia Campello, Barbara Buldini, Andrea Pession, Franco Locatelli, Giuseppe Basso, Martina Pigazzi,
Tópico(s): Cancer Genomics and Diagnostics
2018 - Springer Nature | Leukemia
Sanja Aveic, Diana Corallo, Elena Porcù, Marcella Pantile, Daniele Boso, Carlo Zanon, Giampietro Viola, Viktoryia Sidarovich, Elena Mariotto, Alessandro Quattrone, Giuseppe Basso, Gian Paolo Tonini,
Neuroblastoma (NB) is an embryonal tumor with low cure rate for patients classified as high-risk. This class of NB tumors shows a very complex genomic background and requires aggressive treatment strategies. In this work we evaluated the efficacy of the novel multi-kinase inhibitor TP-0903 in impairing NB cells’ growth, proliferation and motility. In vitro studies were performed using cell lines with different molecular background, and in vivo studies were done using the zebrafish experimental model. ...
Tópico(s): Cancer, Hypoxia, and Metabolism
2017 - Elsevier BV | European Journal of Pharmacology
Edoardo D’Angelo, Carlo Zanon, Francesca Sensi, Maura Digito, Massimo Rugge, Matteo Fassan, Marco Scarpa, Salvatore Pucciarelli, Donato Nitti, Marco Agostini,
Curative surgery remains the primary form of treatment for locally advanced rectal cancer (LARC). Recent data support the use of preoperative chemoradiotherapy (pCRT) to improve the prognosis of LARC with a significant reduction of local relapse and an increase of overall survival. Unfortunately, only 20% of the patients with LARC present complete pathological response after pCRT, whereas in 20%-40%, the response is poor or absent.We investigated the expression level of miR-194 in n=38 patients with ...
Tópico(s): Genetic factors in colorectal cancer
2017 - BMJ | Journal of Clinical Pathology
Vito Alessandro Lasorsa, Daniela Formicola, Piero Pignataro, Flora Cimmino, Francesco Maria Calabrese, Jaume Mora, Maria Rosaria Esposito, Marcella Pantile, Carlo Zanon, Marilena De Mariano, Luca Longo, Michael D. Hogarty, Carmen de Torres, Gian Paolo Tonini, Achille Iolascon, Mario Capasso,
The spectrum of somatic mutation of the most aggressive forms of neuroblastoma is not completely determined. We sought to identify potential cancer drivers in clinically aggressive neuroblastoma.Whole exome sequencing was conducted on 17 germline and tumor DNA samples from high-risk patients with adverse events within 36 months from diagnosis (HR-Event3) to identify somatic mutations and deep targeted sequencing of 134 genes selected from the initial screening in additional 48 germline and tumor ...
Tópico(s): Lung Cancer Research Studies
2016 - Impact Journals LLC | Oncotarget
Marco Agostini, Andrea Zangrando, Chiara Pastrello, Edoardo D’Angelo, Gabriele Romano, Roberto Giovannoni, Marco Giordan, Isacco Maretto, Chiara Bedin, Carlo Zanon, Maura Digito, Giovanni Esposito, Claudia Mescoli, Marialuisa Lavitrano, Flavio Rizzolio, Igor Jurišica, Antonio Giordano, Salvatore Pucciarelli, Donato Nitti,
Preoperative chemoradiotherapy is widely used to improve local control of disease, sphincter preservation and to improve survival in patients with locally advanced rectal cancer. Patients enrolled in the present study underwent preoperative chemoradiotherapy, followed by surgical excision. Response to chemoradiotherapy was evaluated according to Mandard's Tumor Regression Grade (TRG). TRG 3, 4 and 5 were considered as partial or no response while TRG 1 and 2 as complete response. From pretherapeutic ...
Tópico(s): Clusterin in disease pathology
2015 - Taylor & Francis | Cancer Biology & Therapy
Marco Agostini, Klaus‐Peter Janssen, L. Kim, Edoardo D’Angelo, Silvia Pizzini, Andrea Zangrando, Carlo Zanon, Chiara Pastrello, Isacco Maretto, Maura Digito, Chiara Bedin, Igor Jurišica, Flavio Rizzolio, Antonio Giordano, Stefania Bortoluzzi, Donato Nitti, Salvatore Pucciarelli,
Colorectal cancer is the third most common cancer in the world, a small fraction of which is represented by locally advanced rectal cancer (LARC). If not medically contraindicated, preoperative chemoradiotherapy, represent the standard of care for LARC patients. Unfortunately, patients shows a wide range of response rates in which approximately 20% has a complete pathological response, whereas in 20 to 40% the response is poor or absent.The following specific gene signature, able to discriminate ...
Tópico(s): Colorectal and Anal Carcinomas
2015 - Impact Journals LLC | Oncotarget
Fonnet E. Bleeker, Simona Lamba, Carlo Zanon, Remco J. Molenaar, Theo J.M. Hulsebos, Dirk Troost, Angela A. van Tilborg, W. Peter Vandertop, Sieger Leenstra, Cornelis J.F. Van Noorden, Alberto Bardelli,
Glioblastoma is a highly malignant brain tumor for which no cure is available. To identify new therapeutic targets, we performed a mutation analysis of kinase genes in glioblastoma. Database mining and a literature search identified 76 kinases that have been found to be mutated at least twice in multiple cancer types before. Among those we selected 34 kinase genes for mutation analysis. We also included IDH1, IDH2, PTEN, TP53 and NRAS, genes that are known to be mutated at considerable frequencies ...
Tópico(s): Renal cell carcinoma treatment
2014 - BioMed Central | BMC Cancer
Remco J. Molenaar, Dagmar Verbaan, Simona Lamba, Carlo Zanon, Judith W. M. Jeuken, Sandra Boots‐Sprenger, Pieter Wesseling, Theo J.M. Hulsebos, Dirk Troost, Angela A. van Tilborg, Sieger Leenstra, W. Peter Vandertop, Alberto Bardelli, Cornelis J.F. Van Noorden, Fonnet E. Bleeker,
BackgroundGenetic and epigenetic profiling of glioblastomas has provided a comprehensive list of altered cancer genes of which only O6-methylguanine-methyltransferase (MGMT) methylation is used thus far as a predictive marker in a clinical setting. We investigated the prognostic significance of genetic and epigenetic alterations in glioblastoma patients.
Tópico(s): Epigenetics and DNA Methylation
2014 - Oxford University Press | Neuro-Oncology
M.D. Pinazo-Durán, Roberto Gallego‐Pinazo, José Javier García‐Medina, Vicente Zanón‐Moreno, Carlo Nucci, Rosa Dolz‐Marco, Sebastián Martínez-Castillo, Carmen Carmen Galbis, Manuel Díaz-Llopis, Carla Marco, David Galarreta, María Isabel López Gálvez,
Background: Oxidative stress (OS) and its biomarkers are the biochemical end point of the imbalance between reactive oxygen species (ROS) production and the ability of the antioxidant (AOX) biological systems to fight against oxidative injury. Objective: We reviewed the role of OS and its downstream signaling in aging eyes. Methods: A search of the literature and current knowledge on the physiological and pathological mechanisms of OS were revisited in relation to the eyes and the aging process. Most ...
Tópico(s): Biochemical effects in animals
2014 - Dove Medical Press | Clinical Interventions in Aging
Carlo Zanon, David P. Genereux, Steven F. Oberbauer,
Abstract The watershed hydrologic model TOPMODEL was used to estimate interbasin groundwater flow (IGF) into a small lowland rainforest watershed in Costa Rica. IGF is a common hydrological process but often difficult to quantify. Four‐year simulations (2006–2009) using three different model approaches gave estimates of IGF that were very similar to each other (10.1, 10.2, and 9.8 m/year) and to an earlier estimate (10.0 m/year) based on 1998–2002 data from a budget study that did not use a hydrologic ...
Tópico(s): Hydrological Forecasting Using AI
2013 - Wiley | Hydrological Processes
Produção Nacional
Revisado por pares
Sílvia Paula-Gomes, Dawit A. P. Gonçalves, Amanda Martins Baviera, Nelci Zanon, Luiz Carlos Carvalho Navegantes, Ísis do Carmo Kettelhut,
Insulin is an important regulator of the ubiquitin-proteasome system (UPS) and of lysosomal proteolysis in cardiac muscle. However, the role of insulin in the regulation of the muscle atrophy-related Ub-ligases atrogin-1 and MuRF1 as well as in autophagy, a major adaptive response to nutritional stress, in the heart has not been characterized. We report here that acute insulin deficiency in the cardiac muscle of rats induced by streptozotocin increased the expression of atrogin-1 and MuRF1 as well ...
Tópico(s): Sirtuins and Resveratrol in Medicine
2013 - Thieme Medical Publishers (Germany) | Hormone and Metabolic Research
Alberto Bardelli, Simona Corso, Andrea Bertotti, Sebastijan Hobor, Emanuele Valtorta, Giulia Siravegna, Andrea Sartore‐Bianchi, Elisa Scala, Andrea Cassingena, Davide Zecchin, Maria Apicella, Giorgia Migliardi, Francesco Galimi, Calogero Lauricella, Carlo Zanon, Timothy Perera, Silvio Veronese, Giorgio Corti, Alessio Amatu, Marcello Gambacorta, Luis A. Díaz, Mark Sausen, Victor E. Velculescu, Paolo M. Comoglio, Livio Trusolino, Federica Di Nicolantonio, Silvia Giordano, Salvatore Siena,
EGF receptor (EGFR)-targeted monoclonal antibodies are effective in a subset of metastatic colorectal cancers. Inevitably, all patients develop resistance, which occurs through emergence of KRAS mutations in approximately 50% of the cases. We show that amplification of the MET proto-oncogene is associated with acquired resistance in tumors that do not develop KRAS mutations during anti-EGFR therapy. Amplification of the MET locus was present in circulating tumor DNA before relapse was clinically ...
Tópico(s): Cancer, Hypoxia, and Metabolism
2013 - American Association for Cancer Research | Cancer Discovery
Sandra Misale, Rona Yaeger, Sebastijan Hobor, Elisa Scala, Manickam Janakiraman, David Liska, Emanuele Valtorta, Roberta Schiavo, Michela Buscarino, Giulia Siravegna, Katia Bencardino, Andrea Cercek, Chin‐Tung Chen, Silvio Veronese, Carlo Zanon, Andrea Sartore‐Bianchi, Marcello Gambacorta, Margherita Gallicchio, Efsevia Vakiani, Valentina Boscaro, Enzo Médico, Martin R. Weiser, Salvatore Siena, Federica Di Nicolantonio, David B. Solit, Alberto Bardelli,
Molecular alterations in KRAS are associated with acquired resistance to anti-epidermal growth factor receptor (EGFR) treatment in colorectal cancer; resistant mutations can be identified in the blood of patients, months before clinical evidence of disease progression. Antibodies targeting epidermal growth factor receptor (EGFR) have become an established treatment for colorectal cancer, but they are contraindicated in patients carrying mutations in the KRAS oncogene. Drug resistance can also arise ...
Tópico(s): Genetic factors in colorectal cancer
2012 - Nature Portfolio | Nature
Patrick Sulem, Daníel F. Guðbjartsson, G. Bragi Walters, Hafdís T. Helgadóttir, Agnar Helgason, Sigurjón A. Guðjónsson, Carlo Zanon, Søren Besenbacher, Gyða Björnsdóttir, Ólafur Þ. Magnússon, Gísli Magnússon, Eirikur Hjartarson, Jona Saemundsdottir, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Hilma Hólm, Ari Kárason, Þórunn Rafnar, Hreinn Stefánsson, Ole A. Andreassen, Jesper Holst Pedersen, Allan I Pack, Marieke C. Visser, Lambertus A. Kiemeney, Árni Jón Geirsson, Guðmundur I. Eyjólfsson, Ísleifur Ólafsson, Augustine Kong, Gísli Másson, Helgi Jónsson, Unnur Þorsteinsdóttir, Ingileif Jónsdóttir, Kāri Stefánsson,
Tópico(s): Inflammasome and immune disorders
2011 - Nature Portfolio | Nature Genetics
Þórunn Rafnar, Sita H. Vermeulen, Patrick Sulem, Guðmar Þorleifsson, Katja K.H. Aben, J. Alfred Witjes, Anne J. Grotenhuis, Gerald W. Verhaegh, Christina A. Hulsbergen‐van de Kaa, Søren Besenbacher, Daníel F. Guðbjartsson, Simon Stacey, Jūlı́us Guðmundsson, Hrefna Johannsdottir, Hjördis Bjarnason, Carlo Zanon, Hafdís T. Helgadóttir, Jón G. Jónasson, Laufey Tryggvadóttír, Eiríkur Jónsson, Guðmundur Geirsson, Sigfús Nikulásson, Vigdís Pétursdóttir, D. Timothy Bishop, Sei Chung-Sak, Ananya Choudhury, Faye Elliott, Jennifer H. Barrett, Margaret A. Knowles, Petra J. de Verdier, Charlotta Ryk, Annika Lindblom, Péter Rudnai, Eugen Gurzău, Kvetoslava Koppová, Paolo Vineis, Silvia Polidoro, Simonetta Guarrera, Carlotta Sacerdote, Angeles Panadero, José I Sanz-Velez, Manuel Sanchez, Gabriel Valdivia, María Dolores García-Prats, Jan G. Hengstler, Silvia Selinski, Holger Gerullis, Д Ю Овсянников, Abdolaziz Khezri, Alireza Aminsharifi, Mahyar Malekzadeh, Leonard H. van den Berg, Roel A. Ophoff, Jan H. Veldink, Maurice P. Zeegers, Eliane Kellen, Jacopo Fostinelli, Daniele Andreoli, Cecilia Arici, Stefano Porru, Frank Buntinx, Abbas Ghaderi, Klaus Golka, José Mayordomo, Giuseppe Matullo, Rajiv Kumar, Gunnar Steineck, Anne E. Kiltie, Augustine Kong, Unnur Þorsteinsdóttir, Kāri Stefánsson, Lambertus A. Kiemeney,
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
Tópico(s): Genetic Associations and Epidemiology
2011 - Oxford University Press | Human Molecular Genetics
Ludovica Riera, Elena Lasorsa, Lisa Bonello, Francesca Sismondi, Fabrizio Tondat, Cristiana Di Bello, Paola Francia di Celle, Roberto Chiarle, Laura Godio, Achille Pich, Fabio Facchetti, Maurilio Ponzoni, Filippo Marmont, Carlo Zanon, Alberto Bardelli, Giorgio Inghirami,
Gain-of-function (GOF) mutations of Janus kinase 2 (JAK2) are frequently seen in myeloproliferative disorders (MPDs). Meanwhile, JAK3 activating substitutions have been found in a few megakaryocytic cell lines and in primary myeloid leukemia (AMKL). Here, we sought to discover novel leukemogenetic mutations in de novo acute myeloid leukemia of non-Down syndrome (N-DS) by DNA sequencing. A total of 191 normal Caucasian individuals were studied to define single nucleotide polymorphisms (SNPs) within the ...
Tópico(s): Chronic Myeloid Leukemia Treatments
2011 - Taylor & Francis | Leukemia & lymphoma/Leukemia and lymphoma
Þórunn Rafnar, Patrick Sulem, Søren Besenbacher, Daníel F. Guðbjartsson, Carlo Zanon, Jūlı́us Guðmundsson, Simon Stacey, Jelena P. Kostic, Thorgeir E. Thorgeirsson, Guðmar Þorleifsson, Hjördis Bjarnason, Halla Skúladóttir, Tómas Guðbjartsson, Helgi J. Ísaksson, Dolores Isla, Laura Murillo, María Dolores García-Prats, Angeles Panadero, Katja K.H. Aben, Sita H. Vermeulen, Erik H.F.M. van der Heijden, William J. Feser, York E. Miller, Paul A. Bunn, Augustine Kong, Holly J. Wolf, Wilbur A. Franklin, José Mayordomo, Lambertus A. Kiemeney, Steinn Jónsson, Unnur Þorsteinsdóttir, Kāri Stefánsson,
Genome-wide association studies (GWAS) have identified 3 genomic regions, at 15q24-25.1, 5p15.33, and 6p21.33, which associate with the risk of lung cancer. Large meta-analyses of GWA data have failed to find additional associations of genome-wide significance. In this study, we sought to confirm 7 variants with suggestive association to lung cancer (P < 10(-5)) in a recently published meta-analysis. In a GWA dataset of 1,447 lung cancer cases and 36,256 controls in Iceland, 3 correlated variants on ...
Tópico(s): Genetic Associations and Epidemiology
2011 - American Association for Cancer Research | Cancer Research
Hilma Hólm, Daníel F. Guðbjartsson, Patrick Sulem, Gísli Másson, Hafdís T. Helgadóttir, Carlo Zanon, Ólafur Þ. Magnússon, Agnar Helgason, Jona Saemundsdottir, Arnaldur Gylfason, Hrafnhildur Stefansdottir, Sólveig Grétarsdóttir, Stefán E. Matthíasson, Gu∂mundur Thorgeirsson, Áslaug Jónasdóttir, Ásgeir Sigurðsson, Hreinn Stefánsson, Thomas Werge, Þórunn Rafnar, Lambertus A. Kiemeney, Babar Parvez, Raafia Muhammad, Dan M. Roden, Dawood Darbar, Guðmar Þorleifsson, G. Bragi Walters, Augustine Kong, Unnur Þorsteinsdóttir, Davíð O. Arnar, Kāri Stefánsson,
Hilma Holm et al. report a rare missense variant MYH6 that is associated with a high risk of sick sinus syndrome in Icelanders. This heart condition is found most often in elderly people and is the most frequent reason a heart pacemaker is implanted. Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac ...
Tópico(s): Whipple's Disease and Interleukins
2011 - Nature Portfolio | Nature Genetics