Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Lorne Lonie"'
Autor:
Hannah E. Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes, Lorne Lonie, Colin Freeman, Samantha J. L. Knight, Gerton Lunter, Helene Dreau, Helen Lockstone, Jenny C. Taylor, Anna Schuh, Rory Bowden, David Buck
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has focussed on
Externí odkaz:
https://doaj.org/article/e945e04ccd3245778164376c6ae22f52
Autor:
Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, Sally E. Haggan, Celeste M. Bento, Holger Cario, Melanie J. Percy, The WGS Consortium, Peter J. Ratcliffe, Peter A. Robbins, Mary Frances McMullin, Peter Donnelly, John Bell, David Bentley, Gil McVean, Peter Ratcliffe, Jenny Taylor, Andrew Wilkie, Peter Donelly, John Broxholme, David Buck, Jean-Baptiste Cazier, Richard Cornall, Lorna Gregory, Julian Knight, Gerton Lunter, Ian Tomlinson, Christopher Allan, Moustafa Attar, Angie Green, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Richard Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Hilary Martin, Lisa Murray, Davis McCarthy, Andy Rimmer, Natasha Sahgal, Ben Wright, Chris Yau
Publikováno v:
Haematologica, Vol 99, Iss 10 (2014)
Externí odkaz:
https://doaj.org/article/1c06d35da4a3404aa3262eec0c9a8dff
Autor:
Christos P Kotanidis, Cheng Xie, Donna Alexander, Jonathan C L Rodrigues, Katie Burnham, Alexander Mentzer, Daniel O’Connor, Julian Knight, Muhammad Siddique, Helen Lockstone, Sheena Thomas, Rafail Kotronias, Evangelos K Oikonomou, Ileana Badi, Maria Lyasheva, Cheerag Shirodaria, Sheila F Lumley, Bede Constantinides, Nicholas Sanderson, Gillian Rodger, Kevin K Chau, Archie Lodge, Maria Tsakok, Fergus Gleeson, David Adlam, Praveen Rao, Das Indrajeet, Aparna Deshpande, Amrita Bajaj, Benjamin J Hudson, Vivek Srivastava, Shakil Farid, George Krasopoulos, Rana Sayeed, Ling-Pei Ho, Stefan Neubauer, David E Newby, Keith M Channon, John Deanfield, Charalambos Antoniades, David J Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock, Brian Angus, M Azim Ansari, Carolina Arancibia-Cárcamo, Dominik Aschenbrenner, Moustafa Attar, J Kenneth Baillie, Eleanor Barnes, Rachael Bashford-Rogers, Archana Bashyal, Sally Beer, Georgina Berridge, Amy Beveridge, Sagida Bibi, Tihana Bicanic, Luke Blackwell, Paul Bowness, Andrew Brent, Andrew Brown, John Broxholme, David Buck, Helen Byrne, Susana Camara, Ivan Candido Ferreira, Philip Charles, Wentao Chen, Yi-Ling Chen, Amanda Chong, Elizabeth Clutterbuck, Mark Coles, Christopher Conlon, Richard Cornall, Adam Cribbs, Fabiola Curion, Emma Davenport, Neil Davidson, Simon Davis, Calliope Dendrou, Julie Dequaire, Lea Dib, James Docker, Christina Dold, Tao Dong, Damien Downes, Hal Drakesmith, Susanna Dunachie, David Duncan, Chris Eijsbouts, Robert Esnouf, Alexis Espinosa, Rachel Etherington, Benjamin Fairfax, Rory Fairhead, Hai Fang, Shayan Fassih, Sally Felle, Maria Fernandez Mendoza, Ricardo Ferreira, Roman Fischer, Thomas Foord, Aden Forrow, John Frater, Anastasia Fries, Veronica Gallardo Sanchez, Lucy Garner, Clementine Geeves, Dominique Georgiou, Leila Godfrey, Tanya Golubchik, Maria Gomez Vazquez, Angie Green, Hong Harper, Heather Harrington, Raphael Heilig, Svenja Hester, Jennifer Hill, Charles Hinds, Clare Hird, Renee Hoekzema, Benjamin Hollis, Jim Hughes, Paula Hutton, Matthew Jackson-Wood, Ashwin Jainarayanan, Anna James-Bott, Kathrin Jansen, Katie Jeffery, Elizabeth Jones, Luke Jostins, Georgina Kerr, David Kim, Paul Klenerman, Vinod Kumar, Piyush Kumar Sharma, Prathiba Kurupati, Andrew Kwok, Angela Lee, Aline Linder, Teresa Lockett, Lorne Lonie, Maria Lopopolo, Martyna Lukoseviciute, Jian Luo, Spyridoula Marinou, Brian Marsden, Jose Martinez, Philippa Matthews, Michalina Mazurczyk, Simon McGowan, Stuart McKechnie, Adam Mead, Yuxin Mi, Claudia Monaco, Ruddy Montadon, Giorgio Napolitani, Isar Nassiri, Alex Novak, Darragh O'Brien, Daniel O'Connor, Denise O'Donnell, Graham Ogg, Lauren Overend, Inhye Park, Ian Pavord, Yanchun Peng, Frank Penkava, Mariana Pereira Pinho, Elena Perez, Andrew Pollard, Fiona Powrie, Bethan Psaila, T Phuong Quan, Emmanouela Repapi, Santiago Revale, Laura Silva-Reyes, Jean-Baptiste Richard, Charlotte Rich-Griffin, Thomas Ritter, Christine Rollier, Matthew Rowland, Fabian Ruehle, Mariolina Salio, Stephen Nicholas Sansom, Raphael Sanches Peres, Alberto Santos Delgado, Tatjana Sauka-Spengler, Ron Schwessinger, Giuseppe Scozzafava, Gavin Screaton, Anna Seigal, Malcolm Semple, Martin Sergeant, Christina Simoglou Karali, David Sims, Donal Skelly, Hubert Slawinski, Alberto Sobrinodiaz, Nikolaos Sousos, Lizzie Stafford, Lisa Stockdale, Marie Strickland, Otto Sumray, Bo Sun, Chelsea Taylor, Stephen Taylor, Adan Taylor, Supat Thongjuea, Hannah Thraves, John Todd, Adriana Tomic, Orion Tong, Amy Trebes, Dominik Trzupek, Felicia Anna Tucci, Lance Turtle, Irina Udalova, Holm Uhlig, Erinke van Grinsven, Iolanda Vendrell, Marije Verheul, Alexandru Voda, Guanlin Wang, Lihui Wang, Dapeng Wang, Peter Watkinson, Robert Watson, Michael Weinberger, Justin Whalley, Lorna Witty, Katherine Wray, Luzheng Xue, Hing Yuen Yeung, Zixi Yin, Rebecca Young, Jonathan Youngs, Ping Zhang, Yasemin-Xiomara Zurke, Adrian Banning, Alexios Antonopoulos, Andrew Kelion, Attila Kardos, Benjamin Hudson, Bon-Kwon Koo, Christos Kotanidis, Ciara Mahon, Colin Berry, David Newby, Derek Connolly, Diane Scaletta, Ed Nicol, Elisa McAlindon, Evangelos Oikonomou, Francesca Pugliese, Gianluca Pontone, Giulia Benedetti, Guo-Wei He, Henry West, Hidekazu Kondo, Imre Benedek, Intrajeet Das, John Graby, John Greenwood, Jonathan Rodrigues, Junbo Ge, Keith Channon, Larissa Fabritz, Li-Juan Fan, Lucy Kingham, Marco Guglielmo, Matthias Schmitt, Meinrad Beer, Michelle Anderson, Milind Desai, Mohamed Marwan, Naohiko Takahashi, Nehal Mehta, Neng Dai, Nicholas Screaton, Nikant Sabharwal, Pál Maurovich-Horvat, Rajesh Kharbanda, Rebecca Preston, Richard Wood, Ron Blankstein, Ronak Rajani, Saeed Mirsadraee, Shahzad Munir, Steffen Klömpken, Steffen Petersen, Stephan Achenbach, Susan Anthony, Sze Mak, Tarun Mittal, Theodora Benedek, Vinoda Sharma, Wen-Hua Lin
Publikováno v:
The Lancet. Digital Health, 4, 10, pp. e705-e716
The Lancet. Digital Health, 4, e705-e716
The Lancet. Digital Health, 4, e705-e716
Contains fulltext : 286832.pdf (Publisher’s version ) (Open Access) BACKGROUND: Direct evaluation of vascular inflammation in patients with COVID-19 would facilitate more efficient trials of new treatments and identify patients at risk of long-term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667e9c3752db2a7c11d82a56de81ce50
https://ora.ox.ac.uk/objects/uuid:eae65b13-07e0-4f03-8fff-f05e44fa1bf9
https://ora.ox.ac.uk/objects/uuid:eae65b13-07e0-4f03-8fff-f05e44fa1bf9
Autor:
David J. Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock, Brian Angus, M. Azim Ansari, Carolina V. Arancibia-Cárcamo, Dominik Aschenbrenner, Moustafa Attar, J. Kenneth Baillie, Eleanor Barnes, Rachael Bashford-Rogers, Archana Bashyal, Sally Beer, Georgina Berridge, Amy Beveridge, Sagida Bibi, Tihana Bicanic, Luke Blackwell, Paul Bowness, Andrew Brent, Andrew Brown, John Broxholme, David Buck, Katie L. Burnham, Helen Byrne, Susana Camara, Ivan Candido Ferreira, Philip Charles, Wentao Chen, Yi-Ling Chen, Amanda Chong, Elizabeth A. Clutterbuck, Mark Coles, Christopher P. Conlon, Richard Cornall, Adam P. Cribbs, Fabiola Curion, Emma E. Davenport, Neil Davidson, Simon Davis, Calliope A. Dendrou, Julie Dequaire, Lea Dib, James Docker, Christina Dold, Tao Dong, Damien Downes, Hal Drakesmith, Susanna J. Dunachie, David A. Duncan, Chris Eijsbouts, Robert Esnouf, Alexis Espinosa, Rachel Etherington, Benjamin Fairfax, Rory Fairhead, Hai Fang, Shayan Fassih, Sally Felle, Maria Fernandez Mendoza, Ricardo Ferreira, Roman Fischer, Thomas Foord, Aden Forrow, John Frater, Anastasia Fries, Veronica Gallardo Sanchez, Lucy C. Garner, Clementine Geeves, Dominique Georgiou, Leila Godfrey, Tanya Golubchik, Maria Gomez Vazquez, Angie Green, Hong Harper, Heather A. Harrington, Raphael Heilig, Svenja Hester, Jennifer Hill, Charles Hinds, Clare Hird, Ling-Pei Ho, Renee Hoekzema, Benjamin Hollis, Jim Hughes, Paula Hutton, Matthew A. Jackson-Wood, Ashwin Jainarayanan, Anna James-Bott, Kathrin Jansen, Katie Jeffery, Elizabeth Jones, Luke Jostins, Georgina Kerr, David Kim, Paul Klenerman, Julian C. Knight, Vinod Kumar, Piyush Kumar Sharma, Prathiba Kurupati, Andrew Kwok, Angela Lee, Aline Linder, Teresa Lockett, Lorne Lonie, Maria Lopopolo, Martyna Lukoseviciute, Jian Luo, Spyridoula Marinou, Brian Marsden, Jose Martinez, Philippa C. Matthews, Michalina Mazurczyk, Simon McGowan, Stuart McKechnie, Adam Mead, Alexander J. Mentzer, Yuxin Mi, Claudia Monaco, Ruddy Montadon, Giorgio Napolitani, Isar Nassiri, Alex Novak, Darragh P. O'Brien, Daniel O'Connor, Denise O'Donnell, Graham Ogg, Lauren Overend, Inhye Park, Ian Pavord, Yanchun Peng, Frank Penkava, Mariana Pereira Pinho, Elena Perez, Andrew J. Pollard, Fiona Powrie, Bethan Psaila, T. Phuong Quan, Emmanouela Repapi, Santiago Revale, Laura Silva-Reyes, Jean-Baptiste Richard, Charlotte Rich-Griffin, Thomas Ritter, Christine S. Rollier, Matthew Rowland, Fabian Ruehle, Mariolina Salio, Stephen Nicholas Sansom, Raphael Sanches Peres, Alberto Santos Delgado, Tatjana Sauka-Spengler, Ron Schwessinger, Giuseppe Scozzafava, Gavin Screaton, Anna Seigal, Malcolm G. Semple, Martin Sergeant, Christina Simoglou Karali, David Sims, Donal Skelly, Hubert Slawinski, Alberto Sobrinodiaz, Nikolaos Sousos, Lizzie Stafford, Lisa Stockdale, Marie Strickland, Otto Sumray, Bo Sun, Chelsea Taylor, Stephen Taylor, Adan Taylor, Supat Thongjuea, Hannah Thraves, John A. Todd, Adriana Tomic, Orion Tong, Amy Trebes, Dominik Trzupek, Felicia Anna Tucci, Lance Turtle, Irina Udalova, Holm Uhlig, Erinke van Grinsven, Iolanda Vendrell, Marije Verheul, Alexandru Voda, Guanlin Wang, Lihui Wang, Dapeng Wang, Peter Watkinson, Robert Watson, Michael Weinberger, Justin Whalley, Lorna Witty, Katherine Wray, Luzheng Xue, Hing Yuen Yeung, Zixi Yin, Rebecca K. Young, Jonathan Youngs, Ping Zhang, Yasemin-Xiomara Zurke
Publikováno v:
Cell
2022, ' A blood atlas of COVID-19 defines hallmarks of disease severity and specificity ', Cell, vol. 185, no. 5, pp. 916-938.e58 . https://doi.org/10.1016/j.cell.2022.01.012
2022, ' A blood atlas of COVID-19 defines hallmarks of disease severity and specificity ', Cell, vol. 185, no. 5, pp. 916-938.e58 . https://doi.org/10.1016/j.cell.2022.01.012
Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete description of specific immune biomarkers. We present here a comprehensive multi-omic blood atlas for patients with varying COVID-19 severity in an integrated
Autor:
Samantha J. L. Knight, Hannah E. Roberts, Helene Dreau, Helen Lockstone, Maria Lopopolo, Alistair T. Pagnamenta, David Buck, D. E. Parkes, Jenny C. Taylor, Lorne Lonie, Eshita Sharma, Colin Freeman, Gerton Lunter, Rory Bowden, Anna Schuh
Publikováno v:
Scientific Reports, 11(1):6408. Nature Publishing Group
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has focussed on calling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8beff40287a1bec223b54e371fa29a
https://doi.org/10.1101/2020.03.24.999870
https://doi.org/10.1101/2020.03.24.999870
Autor:
Daniel E Porter, M. Fraser, Lorne Lonie, Carol Dobson-Stone, Anthony P. Monaco, Ahrw Simpson, J. R. Porter
Publikováno v:
Porter, D E, Lonie, L, Fraser, M, Dobson-Stone, C, Porter, J R, Monaco, A P & Simpson, H 2004, ' Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study ', Journal of Bone and Joint Surgery, British Volume, vol. 86, no. 7, pp. 1041-6 . https://doi.org/10.1302/0301-620X.86B7.14815
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses. We calculated the se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cc9208962cc8e16ac63ab65ce9d057
https://doi.org/10.1302/0301-620x.86b7.14815
https://doi.org/10.1302/0301-620x.86b7.14815
Background: Bullous pemphigoid (BP) is an autoimmune blistering disease of the skin characterized by autoantibody attack on collagen XVII. Objectives: To characterize the genetic complexity of COL17 A1, the gene which encodes for the autoantigen coll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::057088b83ba6fb8a61cf500f2943caf0
https://doi.org/10.1111/j.0906-6705.2004.0138.x
https://doi.org/10.1111/j.0906-6705.2004.0138.x
Autor:
Lynn Quek, Anne Goriely, Ondrej Cais, Christopher Yau, Lars Fugger, John Broxholme, Niko Popitsch, David Beeson, Zoya Kingsbury, M. Andrew Nesbit, David J. Nutt, Christopher Holmes, Andrew J. Rimmer, Fredrik Karpe, John Taylor, Andrea H. Németh, Veronica J. Buckle, Rodney D. Gilbert, Natasha Sahgal, Sian E. Piret, Alistair T. Pagnamenta, Elizabeth Sweeney, Stefano Lise, Sarah Lamble, Moustafa Attar, Christian Babbs, Mary Frances McMullin, Adrian V. S. Hill, Ingo H. Greger, Per Soelberg Sørensen, Michael P. Whyte, Paolo Piazza, Lorna Witty, Lorne Lonie, Emma E. Davenport, Peter J. Ratcliffe, Peter Humburg, Simon J. McGowan, Holger Cario, Chris Allan, Usha Kini, Malcolm F. Howard, Alexandra Russo, Simon Fiddy, Fiona Powrie, Pauline A. van Schouwenburg, Jude Craft, Andrew O.M. Wilkie, Aimee L. Fenwick, Jennifer Becq, Elizabeth Ormondroyd, Nayia Petousi, Richard R. Copley, Joshua Luck, David Buck, Hilary C. Martin, Katherine R. Bull, Holm H. Uhlig, Russell J. Grocock, Timothy J. Vyse, Smita Y. Patel, Gerton Lunter, Sean Humphray, Helen Chapel, Peter Donnelly, Karin Dahan, Calliope A. Dendrou, Edward Blair, Peter A. Robbins, Davis J. McCarthy, Kerry A. Miller, Rajesh V. Thakker, A. Radu Aricescu, Gilean McVean, Alison Simmons, Annette Bang Oturai, Julian C. Knight, David W. Johnson, Craig B. Langman, Earl D. Silverman, Anja V. Gruszczyk, Olivier Devuyst, Jean-Baptiste Cazier, Paresh Vyas, John I. Bell, Kathryn J. H. Robson, Ian Tomlinson, Jenny C. Taylor, Amy Trebes, Anna Schuh, Linda Hughes, Stephen R.F. Twigg, Hugh Watkins, Celeste Bento, Melanie J. Percy, Robert W. Hastings, Jonathan Flint, Richard J. Cornall, Edouard Hatton, Doug Higgs, P Bignell, Guadalupe Polanco-Echeverry, Angie Green, Jon P. Krohn, Ben Wright, David Bentley, Christopher W. Pugh, Steven A. Wall, Lisa Murray, Alexander Kanapin
Publikováno v:
Nat Genet
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304
To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264c462e19ca02924993dc0e5f946c23
https://doi.org/10.1038/ng.3304
https://doi.org/10.1038/ng.3304
Autor:
Adeline Chew, Francesca De Santa, Gioacchino Natoli, Chia-Lin Wei, Flore Mietton, Lorne Lonie, Serena Ghisletti, Iros Barozzi, Lorna Gregory, Jiannis Ragoussis, Sara Polletti, Elisa Venturini
Publikováno v:
Immunity. 32:317-328
SummaryEnhancers determine tissue-specific gene expression programs. Enhancers are marked by high histone H3 lysine 4 mono-methylation (H3K4me1) and by the acetyl-transferase p300, which has allowed genome-wide enhancer identification. However, the r
Publikováno v:
American Journal of Medical Genetics. :1-9
Protocadherin X and Protocadherin Y (PCDHX and PCDHY) are cell-surface adhesion molecules expressed predominantly in the brain. The PCDHX/Y gene-pair was generated by an X-Y translocation approximately 3 million years ago (MYA) that gave rise to the