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Results: 71
Adipocyte-secreted BMP8b mediates adrenergic-induced remodeling of the neuro-vascular network in adipose tissue.
Vanessa Pellegrinelli, Vivian J Peirce, Laura Howard, Samuel Virtue, Dénes Türei, Martina Senzacqua, Andrea Frontini, Jeffrey W Dalley, Antony R Horton, Guillaume Bidault, Ilenia Severi, Andrew Whittle, Kamal Rahmouni, Julio Saez-Rodriguez, Saverio Cinti, Alun M Davies, Antonio Vidal-Puig
Dec 19, 2018
3T3-L1 Cells Adipocytes Brown Adipose Tissue Brown Adrenergic Agents Animals Bone Morphogenetic Proteins Female Mice Mice Inbred C57BL Mice Transgenic Models Biological Neovascularization Physiologic neuregulins Proteomics Signal Transduction Subcutaneous Fat Thermogenesis Vascular Endothelial Growth Factor A
PIGO deficiency
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson
May 26, 2017
BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...
Left egocentric neglect in early subacute right-stroke patients is related to damage of the superior longitudinal fasciculus.
Barbara Spanò, Davide Nardo, Giovanni Giulietti, Alessandro Matano, Ilenia Salsano, Chiara Briani, Rita Vadalà, Claudia Marzi, Maria De Luca, Carlo Caltagirone, Valerio Santangelo
Feb 09, 2022
A typical consequence of stroke in the right hemisphere is unilateral spatial neglect. Distinct forms of neglect have been described, such as space-based (egocentric) and object-based (allocentric) neglect. However, the...
PIGO deficiency
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro Bassols, Kathleen Freson
May 31, 2018
NIHR BioResource Humans Keratoderma Palmoplantar Glycosylphosphatidylinositols Membrane Proteins Mutation Adolescent Male
Published by: Orphanet journal of rare diseases
Left egocentric neglect in early subacute right-stroke patients is related to damage of the superior longitudinal fasciculus.
Barbara Spanò, Davide Nardo, Giovanni Giulietti, Alessandro Matano, Ilenia Salsano, Chiara Briani, Rita Vadalà, Claudia Marzi, Maria De Luca, Carlo Caltagirone, Valerio Santangelo
Jul 12, 2021
A typical consequence of stroke in the right hemisphere is unilateral spatial neglect. Distinct forms of neglect have been described, such as space-based (egocentric) and object-based (allocentric) neglect. However, the...
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders
Karyn Megy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B Bellissimo, Paul F Bray, Anne C Goodeve, Paolo Gresele, Michele Lambert, Pieter Reitsma, Willem H Ouwehand, Kathleen Freson, Subcommittee on Genomics in Thrombosis and Hemostasis
Jun 27, 2019
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
Paul Tuijnenburg, Hana Lango Allen, Godelieve J de Bree, Sinisa Savic, Machiel H Jansen, Claire Stockdale, Ilenia Simeoni, Ineke JM Ten Berge, Ester MM van Leeuwen, NIHR BioResource, James E Thaventhiran, Taco W Kuijpers
Apr 16, 2019
Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of NFKB2 have been identified in the subset of CVID patients whose...
B cells Common Variable Immunodeficiency NFKB2 T cells Adrenal Insufficiency Ankyrin Repeat B-Lymphocytes Cells Cultured Common Variable Immunodeficiency Ectodermal Dysplasia Female Humans Immunoglobulin Class Switching Immunologic Memory Immunophenotyping Lymphocyte Activation Male Mutation NF-kappa B p52 Subunit Pedigree Receptors CXCR5 T-Lymphocytes
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Emily Staples, Ilenia Simeoni, Jonathan C Stephens, Hana Lango Allen, NIHR-BioResource, Penny Wright, E Graham Davies, Babak Javid, Effrossyni Gkrania-Klotsas, Michael Gattens, Helen Firth, Olga Shamardina, Sri VV Deevi, Matina Prapa, Ben Uttenthal, Dinakantha Kumararatne, James ED Thaventhiran
May 14, 2020
A 29-year old male with recurrent respiratory and skin infections, anaemia and neutropaenia during childhood required immunoglobulin replacement for antibody deficiency from age 16. He remained relatively well until age 28 when...
Monitoring the proportion of the population infected by SARS-CoV-2 using age-stratified hospitalisation and serological data
Nathanaël Hozé, Juliette Paireau, Nathanaël Lapidus, Cécile Tran Kiem, Henrik Salje, Gianluca Severi, Mathilde Touvier, Marie Zins, Xavier de Lamballerie, Daniel Lévy-Bruhl, Fabrice Carrat, Simon Cauchemez
Jun 14, 2021
BACKGROUND: Regional monitoring of the proportion of the population who have been infected by SARS-CoV-2 is important to guide local management of the epidemic, but is difficult in the absence of regular nationwide serosurveys....
Incorporating multiple sets of eQTL weights into gene-by-environment interaction analysis identifies novel susceptibility loci for pancreatic cancer.
Tianzhong Yang, Hongwei Tang, Harvey A Risch, Sarah H Olson, Gloria Peterson, Paige M Bracci, Steven Gallinger, Rayjean J Hung, Rachel E Neale, Ghislaine Scelo, Eric J Duell, Robert C Kurtz, Kay-Tee Khaw, Gianluca Severi, Malin Sund, Nick Wareham, Christopher I Amos, Donghui Li, Peng Wei
Aug 07, 2020
PrediXCan data-adaptive association testing eQTL gene-by-environment interaction multiple functional weights Case-Control Studies Cohort Studies Computer Simulation Data Interpretation Statistical Gene Expression Regulation Gene-Environment Interaction Genetic Predisposition to Disease Genome-Wide Association Study Humans Models Genetic Pancreatic Neoplasms Polymorphism Single Nucleotide Quantitative Trait Loci Smoking
Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk.
Robert J Macinnis, Daniel F Schmidt, Enes Makalic, Gianluca Severi, Liesel M Fitzgerald, Matthias Reumann, Miroslaw K Kapuscinski, Adam Kowalczyk, Zeyu Zhou, Benjamin Goudey, Guoqi Qian, Quang M Bui, Daniel J Park, Adam Freeman, Melissa C Southey, Ali Amin Al Olama, Zsofia Kote-Jarai, Rosalind A Eeles, John L Hopper, Graham G Giles, UK Genetic Prostate Cancer Study Collaborators
Oct 07, 2016
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
Grazia Palomba, Angela Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara, Mario Budroni, Mariano Dei, Sandra Lai, Antonella Mulas, Nina Olmeo, Maria Teresa Ionta, Francesco Atzori, Gianmauro Cuccuru, Maristella Pitzalis, Magdalena Zoledziewska, Nazario Olla, Mario Lovicu, Marina Pisano, Gonçalo R Abecasis, Manuela Uda, Francesco Tanda, Kyriaki Michailidou, Douglas F Easton, Stephen J Chanock, Robert N Hoover, David J Hunter, David Schlessinger, Serena Sanna, Laura Crisponi, Giuseppe Palmieri
Sep 29, 2016
BACKGROUND: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could...
Apoptosis Regulatory Proteins Breast Neoplasms Case-Control Studies Female Genes BRCA1 Genes BRCA2 Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study High Mobility Group Proteins Humans Italy Penetrance Polymorphism Single Nucleotide Receptor Fibroblast Growth Factor Type 2 Receptors Progesterone Trans-Activators
New dimensions for hospital services and early detection of disease
Roger Williams, Charles Alessi, Graeme Alexander, Michael Allison, Richard Aspinall, Rachel L Batterham, Neeraj Bhala, Natalie Day, Anil Dhawan, Colin Drummond, James Ferguson, Graham Foster, Ian Gilmore, Raphael Goldacre, Harriet Gordon, Clive Henn, Deirdre Kelly, Alastair MacGilchrist, Roger McCorry, Neil McDougall, Zulfiquar Mirza, Kieran Moriarty, Philip Newsome, Richard Pinder, Stephen Roberts, Harry Rutter, Stephen Ryder, Marianne Samyn, Katherine Severi, Nick Sheron, Douglas Thorburn, Julia Verne, John Williams, Andrew Yeoman
Mar 11, 2021
Gathering momentum for the way ahead
Roger Williams, Graeme Alexander, Richard Aspinall, Rachel Batterham, Neeraj Bhala, Nick Bosanquet, Katherine Severi, Anya Burton, Robyn Burton, Matthew E. Cramp, Natalie Day, Anil Dhawan, John Dillon, Colin Drummond, Jessica Dyson, James Ferguson, Graham R. Foster, Ian Gilmore, Jonny Greenberg, Clive Henn, Mark Hudson, Helen Jarvis, Deirdre Kelly, Jake Mann, Neil McDougall, Martin McKee, Kieran Moriarty, Joanne Morling, Philip Newsome, John O'Grady, Liz Rolfe, Peter Rice, Harry Rutter, Nick Sheron, Douglas Thorburn, Julia Verne, Jyotsna Vohra, John Wass, Andrew Yeoman
Dec 01, 2018
This report presents further evidence on the escalating alcohol consumption in the UK and the burden of liver disease associated with this major risk factor, as well as the effects on hospital and primary care. We reiterate...
Autoimmunity plays a role in the onset of diabetes after 40 years of age.
Olov Rolandsson, Christiane S Hampe, Stephen J Sharp, Eva Ardanaz, Heiner Boeing, Guy Fagherazzi, Francesca Romana Mancini, Peter M Nilsson, Kim Overvad, Maria-Dolores Chirlaque, Miren Dorronsoro, Marc J Gunter, Rudolf Kaaks, Timothy J Key, Kay-Tee Khaw, Vittorio Krogh, Tilman Kühn, Domenico Palli, Salvatore Panico, Carlotta Sacerdote, Maria-José Sánchez, Gianluca Severi, Annemieke MW Spijkerman, Rosario Tumino, Yvonne T van der Schouw, Elio Riboli, Nita G Forouhi, Claudia Langenberg, Nicholas J Wareham
Dec 03, 2019
AIMS/HYPOTHESIS: Type 1 and type 2 diabetes differ with respect to pathophysiological factors such as beta cell function, insulin resistance and phenotypic appearance, but there may be overlap between the two forms of diabetes....
Next-generation sequencing for the diagnosis of MYH9-RD
Loredana Bury, Karyn Megy, Jonathan C Stephens, Luigi Grassi, Daniel Greene, Nick Gleadall, Karina Althaus, David Allsup, Tadbir K Bariana, Mariana Bonduel, Nora V Butta, Peter Collins, Nicola Curry, Sri VV Deevi, Kate Downes, Daniel Duarte, Kim Elliott, Emanuela Falcinelli, Bruce Furie, David Keeling, Michele P Lambert, Rachel Linger, Sarah Mangles, Rutendo Mapeta, Carolyn M Millar, Christopher Penkett, David J Perry, Kathleen E Stirrups, Ernest Turro, Sarah K Westbury, John Wu, Nihr BioResource, Keith Gomez, Kathleen Freson, Willem H Ouwehand, Paolo Gresele, Ilenia Simeoni
Nov 15, 2019
Autoimmunity plays a role in the onset of diabetes after 40 years of age
Olov Rolandsson, Christiane S. Hampe, Stephen J. Sharp, Eva Ardanaz, Heiner Boeing, Guy Fagherazzi, Francesca Romana Mancini, Peter M. Nilsson, Kim Overvad, Maria-Dolores Chirlaque, Miren Dorronsoro, Marc J. Gunter, Rudolf Kaaks, Timothy J. Key, Kay-Tee Khaw, Vittorio Krogh, Tilman Kühn, Domenico Palli, Salvatore Panico, Carlotta Sacerdote, Maria-José Sánchez, Gianluca Severi, Annemieke M. W. Spijkerman, Rosario Tumino, Yvonne T. van der Schouw, Elio Riboli, Nita G. Forouhi, Claudia Langenberg, Nicholas J. Wareham
Nov 10, 2020
Autoimmunity plays a role in the onset of diabetes after 40 years of age
Olov Rolandsson, Christiane S. Hampe, Stephen J. Sharp, Eva Ardanaz, Heiner Boeing, Guy Fagherazzi, Francesca Romana Mancini, Peter M. Nilsson, Kim Overvad, Maria-Dolores Chirlaque, Miren Dorronsoro, Marc J. Gunter, Rudolf Kaaks, Timothy J. Key, Kay-Tee Khaw, Vittorio Krogh, Tilman Kühn, Domenico Palli, Salvatore Panico, Carlotta Sacerdote, Maria-José Sánchez, Gianluca Severi, Annemieke M. W. Spijkerman, Rosario Tumino, Yvonne T. van der Schouw, Elio Riboli, Nita G. Forouhi, Claudia Langenberg, Nicholas J. Wareham
Jun 06, 2020
Unacceptable failures
Roger Williams, Guruprasad Aithal, Graeme J Alexander, Michael Allison, Iain Armstrong, Richard Aspinall, Alastair Baker, Rachel Batterham, Katrina Brown, Robyn Burton, Matthew E Cramp, Natalie Day, Anil Dhawan, Colin Drummond, James Ferguson, Graham Foster, Ian Gilmore, Jonny Greenberg, Clive Henn, Helen Jarvis, Deirdre Kelly, Mead Mathews, Annie McCloud, Alastair MacGilchrist, Martin McKee, Kieran Moriarty, Joanne Morling, Philip Newsome, Peter Rice, Stephen Roberts, Harry Rutter, Marianne Samyn, Katherine Severi, Nick Sheron, Douglas Thorburn, Julia Verne, Jyotsna Vohra, John Williams, Andrew Yeoman
Jan 18, 2020
This final report of the Lancet Commission into liver disease in the UK stresses the continuing increase in burden of liver disease from excess alcohol consumption and obesity, with high levels of hospital admissions which are...
Development and validation of a universal blood donor genotyping platform
Nicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, Adam S Butterworth, John Ord, Christopher J Penkett, Tiffany C Timmer, Carolin M Sauer, Nieke van der Bolt, Colin Brown, Kim Brugger, Alexander T Dilthey, Daniel Duarte, Shane Grimsley, Katja van den Hurk, John M Jongerius, Jessie Luken, Karyn Megy, Gail Miflin, Christopher S Nelson, Femmeke J Prinsze, Jennifer Sambrook, Ilenia Simeoni, Michael Sweeting, Nicole Thornton, Sara Trompeter, Salih Tuna, Ram Varma, Matthew R Walker, NIHR BioResource, John Danesh, David J Roberts, Willem H Ouwehand, Kathleen E Stirrups, Augusto Rendon, Connie M Westhoff, Emanuele Di Angelantonio, C Ellen van der Schoot, William J Astle, Nicholas A Watkins, William J Lane
Jun 17, 2020
Gathering momentum for the way ahead
Roger Williams, Graeme Alexander, Richard Aspinall, Rachel Batterham, Neeraj Bhala, Nick Bosanquet, Katherine Severi, Anya Burton, Robyn Burton, Matthew E Cramp, Natalie Day, Anil Dhawan, John Dillon, Colin Drummond, Jessica Dyson, James Ferguson, Graham R Foster, Ian Gilmore, Jonny Greenberg, Clive Henn, Mark Hudson, Helen Jarvis, Deirdre Kelly, Jake Mann, Neil McDougall, Martin McKee, Kieran Moriarty, Joanne Morling, Philip Newsome, John O'Grady, Liz Rolfe, Peter Rice, Harry Rutter, Nick Sheron, Douglas Thorburn, Julia Verne, Jyotsna Vohra, John Wass, Andrew Yeoman
May 02, 2019
This report presents further evidence on the escalating alcohol consumption in the UK and the burden of liver disease associated with this major risk factor, as well as the effects on hospital and primary care. We reiterate the...
Alcohol Drinking Alcoholic Beverages Comorbidity Costs and Cost Analysis Disease Eradication Disease Progression Female Food Industry Health Policy Hepatitis B Chronic Hepatitis C Chronic Hospital Mortality Humans Liver Diseases Liver Diseases Alcoholic Lobbying Male Neoplasms obesity prevalence United Kingdom
Gathering momentum for the way ahead
Roger Williams, Graeme Alexander, Richard Aspinall, Rachel Batterham, Neeraj Bhala, Nick Bosanquet, Katherine Severi, Anya Burton, Robyn Burton, Matthew E. Cramp, Natalie Day, Anil Dhawan, John Dillon, Colin Drummond, Jessica Dyson, James Ferguson, Graham R. Foster, Ian Gilmore, Jonny Greenberg, Clive Henn, Mark Hudson, Helen Jarvis, Deirdre Kelly, Jake Mann, Neil McDougall, Martin McKee, Kieran Moriarty, Joanne Morling, Philip Newsome, John O'Grady, Liz Rolfe, Peter Rice, Harry Rutter, Nick Sheron, Douglas Thorburn, Julia Verne, Jyotsna Vohra, John Wass, Andrew Yeoman
Dec 01, 2018
This report presents further evidence on the escalating alcohol consumption in the UK and the burden of liver disease associated with this major risk factor, as well as the effects on hospital and primary care. We reiterate...
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