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Results: 13
The Impact of Artificial Intelligence on Branding
Understanding the growth paths of artificial intelligence (AI) and its impact on branding is extremely pertinent of technology-driven marketing. This explorative research covers a complete bibliometric analysis of the impact of...
Published by: IGI Global Scientific Publishing
Is a Smarter Generation in the Offing?
The study explored the critical determinants of behavioral intention and willingness to use smart wearable devices among Indian youth. Data were collected using a survey instrument on the youth aged between 20-30 years (N=262)...
Published by: IGI Global Scientific Publishing
A novel, sensitive dual-indicator cell line for detection and quantification of inducible, replication-competent latent HIV-1 from reservoir cells.
Fanny Salasc, David W Gludish, Isobel Jarvis, Saikat Boliar, Mark R Wills, David G Russell, Andrew M L Lever, Hoi-Ping Mok
Jan 27, 2020
Understanding the mechanisms involved in HIV infection and latency, and development of a cure, rely on the availability of sensitive research tools such as indicator cells, which allow rigorous quantification of viral activity....
A novel, sensitive dual-indicator cell line for detection and quantification of inducible, replication-competent latent HIV-1 from reservoir cells.
Fanny Salasc, David W Gludish, Isobel Jarvis, Saikat Boliar, Mark R Wills, David G Russell, Andrew ML Lever, Hoi-Ping Mok
Nov 21, 2019
In-depth phenotyping for clinical stratification of Gaucher disease.
Simona D'Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y Tan, Kenneth Poole, Simon A Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M Cox, MRC GAUCHERITE Consortium
Sep 23, 2021
In-depth phenotyping for clinical stratification of Gaucher disease.
Simona D'Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y Tan, Kenneth Poole, Simon A Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M Cox
Nov 22, 2021
Background
The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5-87 years with Gaucher disease in the United Kingdom-an ultra-rare genetic disorder. To inform clinical...
cohort Gaucher Disease Enzyme Replacement Therapy substrate reduction therapy Disease-modifying Therapies Gaucherite
Published by: Orphanet journal of rare diseases
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology
Nour Elkhateeb, Giorgia Olivieri, Barbara Siri, Stewart Boyd, Karolina M Stepien, Reena Sharma, Andrew AM Morris, Thomas Hartley, Laura Crowther, Stephanie Grunewald, Maureen Cleary, Helen Mundy, Anupam Chakrapani, Robin Lachmann, Elaine Murphy, Saikat Santra, Mari-Liis Uudelepp, Mildrid Yeo, Isaac Bernhardt, Sniya Sudakhar, Alicia Chan, Philippa Mills, Debora Ridout, Paul Gissen, Carlo Dionisi-Vici, Julien Baruteau
Apr 10, 2023
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Bertini, Penelope E Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria A Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla-Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo-Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W Taylor, Louis Levinger, Michal Minczuk
May 31, 2019
Mitochondria RNA RNase Z Cardiomyopathy mitochondrial disease Alleles Amino Acid Substitution Biomarkers Cardiomyopathy Hypertrophic Cohort Studies Enzyme Activation Female Gene Expression Genes Mitochondrial Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Infant Kinetics Male Mutation Neoplasm Proteins Phenotype Protein Conformation Protein Interaction Domains and Motifs RNA processing Post-Transcriptional RNA Transfer Structure-Activity Relationship Substrate Specificity
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, T. M. Cox, F. M. Platt, S. Banka, A. Chakrapani, P. B. Deegan, T. Geberhiwot, D. A. Hughes, S. Jones, R. H. Lachmann, S. Santra, R. Sharma, A. Vellodi
Oct 18, 2021
Abstract: Background: The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical...
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra BT Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García-Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez-Mallebrera, Robert W Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C Grünert, Andreas Roos, Rita Horvath
Aug 02, 2019
Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic...
TANGO2 fatty acid metabolism metabolic encephalomyopathy MITOCHONDRIAL DYSFUNCTION proteomic analysis rhabdomyolysis Brain Diseases Metabolic Fatty Acids Female Golgi Apparatus Homozygote Humans Infant Male Mitochondrial Diseases Muscle Weakness Mutation Oxidative Phosphorylation Phenotype Proteomics Rhabdomyolysis whole genome sequencing
The genotypic and phenotypic spectrum of MTO1 deficiency.
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo AJ Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara DM van Karnebeek
Mar 07, 2019
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1...
Cardiomyopathy ketogenic diet lactic acidosis mitochondrial disease Mitochondrial translation optimization 1 Oxidative Phosphorylation Defect Adolescent Biopsy Brain Cardiomyopathy Hypertrophic Carrier Proteins Child Child Preschool Female Frameshift Mutation Hepatic encephalopathy Humans Infant Infant Newborn Male metabolism Inborn Errors Mitochondrial Diseases Oxidative Phosphorylation RNA-Binding Proteins
Phenotypic Characterization of
<i>EIF2AK4</i>
Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Background:
Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding...
Charaka Hadinnapola, Marta Bleda, Matthias Haimel, Nicholas Screaton, Andrew Swift, Peter Dorfmüller, Stephen D Preston, Mark Southwood, Jules Hernandez-Sanchez, Jennifer Martin, Carmen Treacy, Katherine Yates, Harm Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A Corris, Simon Gibbs, Barbara Girerd, Simon Holden, Marc Humbert, David G Kiely, Allan Lawrie, Rajiv Machado, Robert MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrew Peacock, Joanna Pepke-Zaba, Paula Rayner-Matthews, Olga Shamardina, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Mark Toshner, Richard Trembath, Anton Vonk Noordegraaf, Martin R Wilkins, Stephen J Wort, John Wharton, Stefan Gräf, Nicholas W Morrell, Timothy Aitman, David Bennett, Mark Caulfield, Patrick Chinnery, Daniel Gale, Ania Koziell, Taco W Kuijpers, Michael A Laffan, Eamonn Maher, Hugh S Markus, Willem H Ouwehand, David Perry, F Lucy Raymond, Irene Roberts, Kenneth Smith, Adrian Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Willem H Ouwehand, Christopher J Penkett, F Lucy Raymond, Kathleen Stirrups, Marijke Veltman, Tim Young, Sofie Ashford, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Marie Erwood, Amy Frary, Rachel Linger, Sofia Papadia, Karola Rehnstrom, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K Bariana, Paula Bolton-Maggs, Elizabeth Chalmers, Peter Collins, Wendy N Erber, Tamara Everington, Remi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Keith Gomez, Daniel Greene, Andreas Greinacher, Daniel Hart, Johan WM Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M Kelly, Michael A Laffan, Michele P Lambert, Claire Lentaigne, Ri Liesner, Sarah Mangles, Mary Mathias, Carolyn M Millar, Andrew Mumford, Paquita Nurden, Willem H Ouwehand, Sofia Papadia, Jeanette Payne, John Pasi, David J Perry, Kathelijne Peerlinck, Michael Richards, Matthew Rondina, Catherine Roughley, Sol Schulman, Harald Schulze, Marie Scully, Suthesh Sivapalaratnam, R Campbell Tait, Kate Talks, Jecko Thachil, Ernest Turro, Cheng-Hock Toh, Chris van Geet, Minka De Vries, Timothy Q Warner, Sarah Westbury, Abigail Furnell, Rutendo Mapeta, Ilenia Simeoni, Simon Staines, Jonathan Stephens, Kathleen Stirrups, Deborah Whitehorn, Christopher Watt, Antony Attwood, Louise Daugherty, Sri VV Deevi, Csaba Halmagyi, Fengyuan Hu, Roger James, Vera Matser, Stuart Meacham, Karyn Megy, Christopher J Penkett, Kathleen Stirrups, Catherine Titterton, Salih Tuna, Ping Yu, Julie von Ziegenweldt, William Astle, Keren Carss, Daniel Greene, Hana Lango-Allen, Ernest Turro, William Astle, Daniel Greene, Sylvia Richardson, Ernest Turro, Paul Calleja, Stuart Rankin, Wojciech Turek, Christine Bryson, Julie Anderson, Debra Fletcher, Coleen McJannet, Sophie Stock, Tim Young, Evangeline Wassmer, Aman Sohal, Saikat Santra, Julie Vogt, Manali Chitre, Deepa Krishnakumar, Gautum Ambegaonkar, Anna Maw, Ruth Armstrong, Soo-Mi Park, Sarju Mehta, Joan Paterson, Jenny Carmichael, Louise Allen, Anke Hensiek, Helen Firth, Penelope Stein, Patrick Deegan, Rainer Doffinger, Alasdair Parker, Maria Bitner-Glindzicz, Richard Scott, Jane Hurst, Elisabeth Rosser, Melissa Lees, Emma Clement, Robert Henderson, Dorothy Thompson, Alice Gardham, Paul Gissen, Dragana Josifova, Ellen Thomas, Chris Patch, Charu Deshpande, Frances Flinter, Muriel Holder, Natalie Canham, Emma Wakeling, Susan Holder, Neeti Ghali, Angie Brady, Virginia Clowes, Robert MacLaren, Andrew Webster, Anthony Moore, Gavin Arno, Michel Michaelides, Julia Rankin, Manju Kurian, Elaine Murphy, Keren Carss, Alba Sanchis-Juan, Marie Erwood, Eleanor Dewhurst, Detelina Grozeva, F Lucy Raymond, Evan Reid, Geoff Woods, Marc Tischkowitz, Richard Sandford, Sonia Ali, Amanda Creaser-Myers, Victoria Cookson, Rosa DaCosta, Natalie Dormand, Pavandeep K Ghataorhe, Alan Greenhalgh, Anna Huis in’t Veld, Fiona Kennedy, Rob Mackenzie Ross, Larahmie Masati, Sharon Meehan, Shokri Othman, Val Pollock, Gary Polwarth, Christopher J Rhodes, Kevin Rue-Albrecht, Gwen Schotte, Debbie Shipley, Yvonne Tan, Ivy Wanjiku, John Wort, Kenneth Smith, Taco Kuijpers, Adrian Thrasher, James Thaventhiran, Matthew Brown, Hana Lango Allen, Ilenia Simeoni, Emily Staples, Crina Samarghitean, Hana Alachkar, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Claire Booth, Michael Browning, Siobhan Burns, Anita Chandra, Nichola Cooper, Sophie Davies, Lisa Devlin, Rainer Doffinger, Elizabeth Drewe, David Edgar, William Egner, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Grant Hayman, Archana Herwadkar, Aarnoud Huissoon, Stephen Jolles, Peter Kelleher, Dinakantha Kumararatne, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Sai Murng, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Isabella Quinti, Alex Richter, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewell, Hans Stauss, Moira Thomas, Steve Welch, Lisa Willcocks, Nigel Yeatman, Patrick Yong
Jun 20, 2018