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Conflicting vascular and metabolic impact of the IL-33/sST2 axis.
Interleukin 33 (IL-33), which is expressed by several immune cell types, endothelial and epithelial cells, and fibroblasts, is a cytokine of the IL-1 family that acts both intra- and extracellularly to either enhance or resolve...
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IL-33 (Interleukin 33)/sST2 Axis in Hypertension and Heart Failure.
IL-33 (interleukin 33) is type of cytokine designated an alarmin, which is released under stress conditions or by cell death to induce protective measures in neighboring cells.1 It signals via the ST2 (suppression of...
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Exploring DSS for Personality Assessment
The research has been undertaken with the objective of studying the factors of personality and its impact on organization citizenship behaviour (OCB) among information technology (IT) sector employees. The study will help human...
Scientific Aspects of the Indian Vedic Sciences and Their Effect on Stress
Indian Ancient Vedic Science, which has fascinated the world researchers, has become more relevant in the 21st century because of other global crises and threats. It has shown a powerful impact in all the areas of life...
The contribution of X-linked coding variation to severe developmental disorders
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles, Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M. Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford, Nicola Williams, Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, V.K.Ajith Kumar, Melissa Lees, Sam Loughlin, Alison Male, Deborah Morrogh, Elisabeth Rosser, Richard Scott, Louise Wilson, Ana Beleza, Charu Deshpande, Frances Flinter, Muriel Holder, Melita Irving, Louise Izatt, Dragana Josifova, Shehla Mohammed, Aneta Molenda, Leema Robert, Wendy Roworth, Deborah Ruddy, Mina Ryten, Shu Yau, Christopher Bennett, Moira Blyth, Jennifer Campbell, Andrea Coates, Angus Dobbie, Sarah Hewitt, Emma Hobson, Eilidh Jackson, Rosalyn Jewell, Alison Kraus, Katrina Prescott, Eamonn Sheridan, Jenny Thomson, Kirsty Bradshaw, Abhijit Dixit, Jacqueline Eason, Rebecca Haines, Rachel Harrison, Stacey Mutch, Ajoy Sarkar, Claire Searle, Nora Shannon, Abid Sharif, Mohnish Suri, Pradeep Vasudevan, Natalie Canham, Ian Ellis, Lynn Greenhalgh, Emma Howard, Victoria Stinton, Andrew Swale, Astrid Weber, Siddharth Banka, Catherine Breen, Tracy Briggs, Emma Burkitt-Wright, Kate Chandler, Jill Clayton-Smith, Dian Donnai, Sofia Douzgou, Lorraine Gaunt, Elizabeth Jones, Bronwyn Kerr, Claire Langley, Kay Metcalfe, Audrey Smith, Ronnie Wright, David Bourn, John Burn, Richard Fisher, Steve Hellens, Alex Henderson, Tara Montgomery, Miranda Splitt, Volker Straub, Michael Wright, Simon Zwolinski, Zoe Allen, Birgitta Bernhard, Angela Brady, Claire Brooks, Louise Busby, Virginia Clowes, Neeti Ghali, Susan Holder, Rita Ibitoye, Emma Wakeling, Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard Gibbons, Usha Kini, Tracy Lester, Andrea Nemeth, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart, Andrew Wilkie, Shadi Albaba, Duncan Baker, Meena Balasubramanian, Diana Johnson, Michael Parker, Oliver Quarrell, Alison Stewart, Josh Willoughby, Charlene Crosby, Frances Elmslie, Tessa Homfray, Huilin Jin, Nayana Lahiri, Sahar Mansour, Karen Marks, Meriel McEntagart, Anand Saggar, Kate Tatton-Brown, Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Emma McCann, Hood Mugalaasi, Caroline Pottinger, Annie Procter, Julian Sampson, Francis Sansbury, Vinod Varghese, Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple, Diana Wellesley
Jan 27, 2021
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden...
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Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
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
Background: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding...
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