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Results: 1558
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
David L Duffy, Gu Zhu, Xin Li, Marianna Sanna, Mark M Iles, Leonie C Jacobs, David M Evans, Seyhan Yazar, Jonathan Beesley, Matthew H Law, Peter Kraft, Alessia Visconti, John C Taylor, Fan Lui, Margaret J Wright, Anjali K Henders, Lisa Bowdler, Dan Glass, Arfan M Ikram, André G Uitterlinden, Pamela A Madden, Andrew C Heath, Elliot C Nelson, Adele C Green, Stephen Chanock, Jennifer H Barrett, Matthew A Brown, Nicholas K Hayward, Stuart MacGregor, Richard A Sturm, Alex W Hewitt, Melanoma GWAS Consortium, Manfred Kayser, David J Hunter, Julia A Newton Bishop, Timothy D Spector, Grant W Montgomery, David A Mackey, George Davey Smith, Tamar E Nijsten, D Timothy Bishop, Veronique Bataille, Mario Falchi, Jiali Han, Nicholas G Martin
Jan 31, 2019
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We...
Carrier Proteins Cytochrome P-450 CYP1B1 Genetic Pleiotropy Genetic Predisposition to Disease Genome-Wide Association Study Group VI Phospholipases A2 Guanine Nucleotide Exchange Factors Histone Deacetylases Humans Interferon Regulatory Factors Melanoma MicroRNAs Microfilament Proteins Nerve Tissue Proteins Nevus Pigmented Nuclear Proteins Polymorphism Single Nucleotide RNA RNA-Binding Proteins Receptors G-Protein-Coupled Repressor Proteins Skin Neoplasms Stem Cell Factor Telomerase Telomere-Binding Proteins White People
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
Alvaro N Barbeira, Rodrigo Bonazzola, Eric R Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram Rao, Andrew R Hamel, Milton D Pividori, François Aguet, GTEx GWAS Working Group, Lisa Bastarache, Daniel M Jordan, Marie Verbanck, Ron Do, GTEx Consortium, Matthew Stephens, Kristin Ardlie, Mark McCarthy, Stephen B Montgomery, Ayellet V Segrè, Christopher D Brown, Tuuli Lappalainen, Xiaoquan Wen, Hae Kyung Im
Jan 26, 2021
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of...
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Achieving Self-Directed Integrated Cancer Aftercare (ASICA) in melanoma
P Murchie, J Masthoff, FM Walter, K Rahman, JL Allan, N Burrows, C Proby, AJ Lee, M Johnston, A Durrani, I Depasquale, B Brant, A Neilson, F Meredith, S Treweek, S Hall, A McDonald
Jun 07, 2019
BACKGROUND: Melanoma is common; 15,906 people in the UK were diagnosed with melanoma in 2015 and incidence has increased fivefold in 30 years. Melanoma affects old and young people, with poor prognosis once metastatic. UK...
ASICA Cancer Melanoma PRIMARY CARE randomised controlled trial Self-directed care Survivorship e-Health Adult Aftercare Data Interpretation Statistical Early Detection of Cancer Humans Melanoma Neoplasm Recurrence Local Outcome Assessment Health Care Pilot Projects Randomized Controlled Trials as Topic Sample Size Self-Examination Surveys and Questionnaires
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
Achieving integrated self-directed Cancer aftercare (ASICA) for melanoma
Felicity Reilly, Lynda Contstable, William Brant, Kaz Rahman, Amer Durrani, Nigel Burrows, Charlotte Proby, Julia Allan, Marie Johnston, Derek Johnston, Fiona Walter, Peter Murchie
Nov 22, 2021
BACKGROUND: Melanoma incidence has quadrupled since 1970 and melanoma is now the second most common cancer in individuals under 50. Targeted immunotherapies for melanoma now potentially enable long-term remission even in...
Cancer Melanoma PRIMARY CARE randomised controlled trial Self-directed care Survivorship e-Health Aftercare Cancer Survivors Computers Handheld Feasibility Studies Female Humans Male Melanoma Middle Aged Mobile Applications Neoplasm Recurrence Local Nurse Practitioners Oncology Nursing Photography Pilot Projects Self Care Self-Examination Skin Skin Neoplasms United Kingdom
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
George F Mells, James AB Floyd, Katherine I Morley, Heather J Cordell, Christopher S Franklin, So-Youn Shin, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Darren B Day, Samantha J Ducker, Agnes W Muriithi, Elizabeth F Wheater, Christopher J Hammond, Muhammad F Dawwas, UK PBC Consortium, Wellcome Trust Case Control Consortium 3, David E Jones, Leena Peltonen, Graeme J Alexander, Richard N Sandford, Carl A Anderson
Dec 15, 2020
In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840...
Adaptive Immunity B7-1 Antigen Case-Control Studies Cohort Studies Databases Genetic Death Domain Receptor Signaling Adaptor Proteins Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Immunity Innate Lectins C-Type Linkage Disequilibrium Liver Cirrhosis Biliary Male Monosaccharide Transport Proteins NF-kappa B p50 Subunit Polymorphism Single Nucleotide Receptors CXCR5 Receptors Interleukin-7 Receptors Tumor Necrosis Factor Type I Risk Factors STAT4 Transcription Factor
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.
Babatunde Adedokun, Zhaohui Du, Guimin Gao, Thomas U Ahearn, Kathryn L Lunetta, Gary Zirpoli, Jonine Figueroa, Esther M John, Leslie Bernstein, Wei Zheng, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Elisa V Bandera, Sue A Ingles, Michael F Press, Sandra L Deming-Halverson, Jorge L Rodriguez-Gil, Song Yao, Temidayo O Ogundiran, Oladosu Ojengbede, William Blot, Melissa A Troester, Katherine L Nathanson, Anselm Hennis, Barbara Nemesure, Stefan Ambs, Peter N Fiorica, Lara E Sucheston-Campbell, Jeannette T Bensen, Lawrence H Kushi, Gabriela Torres-Mejia, Donglei Hu, Laura Fejerman, Manjeet K Bolla, Joe Dennis, Alison M Dunning, Douglas F Easton, Kyriaki Michailidou, Paul D P Pharoah, Qin Wang, Dale P Sandler, Jack A Taylor, Katie M O'Brien, Cari M Kitahara, Adeyinka G Falusi, Chinedum Babalola, Joel Yarney, Baffour Awuah, Beatrice Addai-Wiafe, Stephen J Chanock, Andrew F Olshan, Christine B Ambrosone, David V Conti, Elad Ziv, Olufunmilayo I Olopade, Montserrat Garcia-Closas, Julie R Palmer, Christopher A Haiman, Dezheng Huo
Aug 11, 2021
Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193...
Humans Breast Neoplasms Genetic Predisposition to Disease Polymorphism Single Nucleotide Quantitative Trait Loci Introns African Continental Ancestry Group European Continental Ancestry Group Female Genome-Wide Association Study
Published by: Nature Communications
GWAS for BMI
Muller et al. [1] have provided a strong critique of the Genome-Wide Association Studies (GWAS) of body-mass index (BMI), arguing that the GWAS approach for the study of BMI is flawed, and has provided us with few biological...
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women
Babatunde Adedokun, Zhaohui Du, Guimin Gao, Thomas U. Ahearn, Kathryn L. Lunetta, Gary Zirpoli, Jonine Figueroa, Esther M. John, Leslie Bernstein, Wei Zheng, Jennifer J. Hu, Regina G. Ziegler, Sarah Nyante, Elisa V. Bandera, Sue A. Ingles, Michael F. Press, Sandra L. Deming-Halverson, Jorge L. Rodriguez-Gil, Song Yao, Temidayo O. Ogundiran, Oladosu Ojengbede, William Blot, Melissa A. Troester, Katherine L. Nathanson, Anselm Hennis, Barbara Nemesure, Stefan Ambs, Peter N. Fiorica, Lara E. Sucheston-Campbell, Jeannette T. Bensen, Lawrence H. Kushi, Gabriela Torres-Mejia, Donglei Hu, Laura Fejerman, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Dale P. Sandler, Jack A. Taylor, Katie M. O’Brien, Cari M. Kitahara, Adeyinka G. Falusi, Chinedum Babalola, Joel Yarney, Baffour Awuah, Beatrice Addai-Wiafe, Stephen J. Chanock, Andrew F. Olshan, Christine B. Ambrosone, David V. Conti, Elad Ziv, Olufunmilayo I. Olopade, Montserrat Garcia-Closas, Julie R. Palmer, Christopher A. Haiman, Dezheng Huo
Jul 07, 2021
Abstract: Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and...
Identification of a Microrna Network that Regulates Melanoma Metastasis and Angiogenesis by Targeting Apoe
Nora Pencheva
Jan 01, 0001
Metastatic melanoma, a prevalent and deadly form of skin cancer, remains an aggressive clinical outcome that lacks effective preventative and/or curative therapeutics. Patients diagnosed with advanced metastatic melanoma face a...
Published by: Rockefeller University
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
The different faces of metastatic melanoma in the gastrointestinal tract.
Eva Mendes Serrao, Ana Maria Costa, Sergio Ferreira, Victoria McMorran, Emma Cargill, Caroline Hough, Ashley S Shaw, Brent O'Carrigan, Christine A Parkinson, Pippa G Corrie, Timothy J Sadler
Nov 04, 2022
Melanoma is the most aggressive form of skin cancer, with tendency to spread to any organ of the human body, including the gastrointestinal tract (GIT). The diagnosis of metastases to the GIT can be difficult, as they may be...
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Kim Wong, Louise van der Weyden, Courtney R Schott, Alastair Foote, Fernando Constantino-Casas, Sionagh Smith, Jane M Dobson, Elizabeth P Murchison, Hong Wu, Iwei Yeh, Douglas R Fullen, Nancy Joseph, Boris C Bastian, Rajiv M Patel, Inigo Martincorena, Carla Daniela Robles-Espinoza, Vivek Iyer, Marieke L Kuijjer, Mark J Arends, Thomas Brenn, Paul W Harms, Geoffrey A Wood, David J Adams
Feb 25, 2019
Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary...
Animals BRCA1 Protein BRCA2 Protein Cadherins Carcinogenesis Cell Cycle Proteins DNA Copy Number Variations Dogs GTP Phosphohydrolases Gene Expression Regulation Neoplastic Germ-Line Mutation Horses Humans Melanoma Membrane Proteins Microtubule-Associated Proteins Mouth Neoplasms Mucous Membrane Neoplasm Proteins Neoplasm Recurrence Local PTEN Phosphohydrolase Protein Serine-Threonine Kinases Proto-Oncogene Proteins c-mdm2 Receptor-Like Protein Tyrosine Phosphatases Class 3 Skin Neoplasms Species Specificity Tumor Suppressor Protein p53 Tumor Suppressor Proteins
Stability Analysis of EPC Consortium Cooperation Based on Evolutionary Game
Consortium contracting is a contracting model that China encourages and advocates. Due to the interest drive, members within the consortium are very prone to negative cooperation and midway withdrawal, which hinders the healthy...
Published by: IGI Global Scientific Publishing
Dermatoscopy Using Multi-Layer Perceptron, Convolution Neural Network, and Capsule Network to Differentiate Malignant Melanoma From Benign Nevus
Shamik Tiwari
Jul 01, 2021
Epiluminescence microscopy, more simply, dermatoscopy, entails a process using imaging to examine skin lesions. Various sorts of skin ailments, for example, melanoma, may be differentiated via these skin images. With the adverse...
Published by: IGI Global Scientific Publishing
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
The different faces of metastatic melanoma in the gastrointestinal tract
Abstract Melanoma is the most aggressive form of skin cancer, with tendency to spread to any organ of the human body, including the gastrointestinal tract (GIT). The diagnosis of metastases to the...
Eva Mendes Serrao, Ana Maria Costa, Sergio Ferreira, Victoria McMorran, Emma Cargill, Caroline Hough, Ashley S Shaw, Brent O’Carrigan, Christine A Parkinson, Pippa G Corrie, Timothy J Sadler
Oct 05, 2022
Multi-site clonality analysis uncovers pervasive heterogeneity across melanoma metastases.
Roy Rabbie, Naser Ansari-Pour, Oliver Cast, Doreen Lau, Francis Scott, Sarah J Welsh, Christine Parkinson, Leila Khoja, Luiza Moore, Mark Tullett, Kim Wong, Ingrid Ferreira, Julia M Martínez Gómez, Mitchell Levesque, Ferdia A Gallagher, Alejandro Jiménez-Sánchez, Laura Riva, Martin L Miller, Kieren Allinson, Peter J Campbell, Pippa Corrie, David C Wedge, David J Adams
Sep 25, 2020
Metastatic melanoma carries a poor prognosis despite modern systemic therapies. Understanding the evolution of the disease could help inform patient management. Through whole-genome sequencing of 13 melanoma metastases sampled...
A Gain-of-Function Role of Apolipoprotein E2 in Melanoma Progression
Nneoma Adaku
Jan 01, 0001
Genetic polymorphism of the secreted lipid transporter apolipoprotein E (APOE) plays important roles in the development of atherosclerosis and Alzheimer's disease. More recently, three common APOE alleles have been implicated as...
Published by: Rockefeller University
Pan-cancer analysis of whole genomes.
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of...
Cell Proliferation Cellular Senescence Chromothripsis Cloud Computing DNA Mutational Analysis evolution Molecular Female Genome Human Genomics Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Information Dissemination Male Mutagenesis Mutation Neoplasms Oncogenes Promoter Regions Genetic RNA Splicing Reproducibility of Results Telomerase Telomere
Lymphoscintigraphy defines new lymphatic pathways from cutaneous melanoma site
Sentinel lymph node biopsy is commonly applied as staging procedure of regional lymph nodes in patients with cutaneous melanoma. Dynamic lymphoscintigraphy defines the lymphatic pathways from a primary melanoma site and allows...
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes
BP Prins, A Abbasi, A Wong, A Vaez, I Nolte, N Franceschini, PE Stuart, J Guterriez Achury, V Mistry, JP Bradfield, AM Valdes, J Bras, A Shatunov, PAGE Consortium, International Stroke Genetics Consortium, Systemic Sclerosis consortium, Treat OA consortium, DIAGRAM Consortium, CARDIoGRAMplusC4D Consortium, ALS consortium, International Parkinson’s Disease Genomics Consortium, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, CKDGen consortium, GERAD1 Consortium, International Consortium for Blood Pressure, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Inflammation Working Group of the CHARGE Consortium, C Lu, B Han, S Raychaudhuri, S Bevan, MD Mayes, LC Tsoi, E Evangelou, RP Nair, SFA Grant, C Polychronakos, TRD Radstake, DA van Heel, ML Dunstan, NW Wood, A Al-Chalabi, A Dehghan, H Hakonarson, HS Markus, JT Elder, J Knight, DE Arking, TD Spector, BPC Koeleman, CM van Duijn, J Martin, AP Morris, RK Weersma, C Wijmenga, PB Munroe, JRB Perry, JG Pouget, Y Jamshidi, H Snieder, BZ Alizadeh
Jan 30, 2017
BACKGROUND: C-reactive protein (CRP) is associated with immune, cardiometabolic, and psychiatric traits and diseases. Yet it is inconclusive whether these associations are causal. METHODS AND FINDINGS: We performed Mendelian...
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