Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Elisavet, Fotiou"'
Autor:
Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Congenital renal tract malformations (RTMs) are the major cause of severe kidney failure in children. Studies to date have identified defined genetic causes for only a minority of human RTMs. While some RTMs may be caused by poorly defined e
Externí odkaz:
https://doaj.org/article/f53fdbd76f954105b41d5e7e7e993256
Autor:
Siobhan Crilly, Alexandra Njegic, Sarah E. Laurie, Elisavet Fotiou, Georgina Hudson, Jack Barrington, Kirsty Webb, Helen L. Young, Andrew P. Badrock, Adam Hurlstone, Jack Rivers-Auty, Adrian R. Parry-Jones, Stuart M. Allan, Paul R. Kasher
Publikováno v:
F1000Research, Vol 7 (2018)
Intracerebral haemorrhage (ICH) is a devastating condition with limited treatment options, and current understanding of pathophysiology is incomplete. Spontaneous cerebral bleeding is a characteristic of the human condition that has proven difficult
Externí odkaz:
https://doaj.org/article/4ae87017fdee48b597a54b019f099a8b
Autor:
Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
This Article contains an error in the last sentence of the ‘Variant analysis suggests they are pathogenic’ section of the Results, which incorrectly reads ‘No truncated PIEZO1 protein products were identified in western blot analysis in GLD1:II
Externí odkaz:
https://doaj.org/article/e07e02869c1341999b9a713136862533
Autor:
David Robertson, Kathryn E. Hentges, Simon G. Williams, Bernard Keavney, Alexandra Martin-Geary, Elisavet Fotiou, Gennadiy Tenin
Publikováno v:
Circulation. Cardiovascular Genetics
Fotiou, E, Williams, S, Martin-Geary, A, Robertson, D, Tenin, BSc, MSc, PhD, G, Hentges, K & Keavney, B 2019, ' Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease ', Circulation . https://doi.org/10.1161/CIRCGEN.119.002694
Fotiou, E, Williams, S, Martin-Geary, A, Robertson, D, Tenin, BSc, MSc, PhD, G, Hentges, K & Keavney, B 2019, ' Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease ', Circulation . https://doi.org/10.1161/CIRCGEN.119.002694
Supplemental Digital Content is available in the text.
Background: Most cases of congenital heart disease (CHD) are sporadic and nonsyndromic, with poorly understood etiology. Rare genetic variants have been found to affect the risk of sporadic,
Background: Most cases of congenital heart disease (CHD) are sporadic and nonsyndromic, with poorly understood etiology. Rare genetic variants have been found to affect the risk of sporadic,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac8d5738d0974213fe66a5a3157e4b7
http://europepmc.org/articles/PMC6798745
http://europepmc.org/articles/PMC6798745
Autor:
Polakit, Teekakirikul, Wenjuan, Zhu, Xinxiu, Xu, Cullen B, Young, Tuantuan, Tan, Amanda M, Smith, Chengdong, Wang, Kevin A, Peterson, George C, Gabriel, Sebastian, Ho, Yi, Sheng, Anne, Moreau de Bellaing, Daniel A, Sonnenberg, Jiuann-Huey, Lin, Elisavet, Fotiou, Gennadiy, Tenin, Michael X, Wang, Yijen L, Wu, Timothy, Feinstein, William, Devine, Honglan, Gou, Abha S, Bais, Benjamin J, Glennon, Maliha, Zahid, Timothy C, Wong, Ferhaan, Ahmad, Michael J, Rynkiewicz, William J, Lehman, Bernard, Keavney, Tero-Pekka, Alastalo, Mary-Louise, Freckmann, Kyle, Orwig, Steve, Murray, Stephanie M, Ware, Hui, Zhao, Brian, Feingold, Cecilia W, Lo
Publikováno v:
Cell reports. Medicine. 3(2)
Analysis of large-scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here, we report the unexpected recovery of a rare dominant lethal mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a96a8f6f4f6f088b38eefad46ca14e
https://pubmed.ncbi.nlm.nih.gov/35243414
https://pubmed.ncbi.nlm.nih.gov/35243414
Autor:
Gennadiy Tenin, Sebastian Ho, Amanda M. Smith, Abha S. Bais, Xinxiu Xu, Yi Sheng, Tuantuan Tan, William Lehman, Brian Feingold, Kevin A. Peterson, Stephanie M. Ware, Mary-Louise Freckmann, Steve Murray, Anne Moreau de Bellaing, George C. Gabriel, Kyle E. Orwig, Hui Zhao, Ferhaan Ahmad, Cecilia W. Lo, Tero-Pekka Alastalo, Michael J. Rynkiewicz, Elisavet Fotiou, Wenjuan Zhu, Cullen B. Young, Chengdong Wang, Maliha Zahid, Daniel Sonnenberg, Timothy N. Feinstein, Polakit Teekakirikul, Jiuanne-huey Lin, Yijen L. Wu, Timothy C. Wong, Honglan Gou, William A. Devine, Bernard Keavney, Michael X. Wang
Publikováno v:
SSRN Electronic Journal.
Analysis of large scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here we report the unexpected recovery of a rare dominant lethal mutation in TPM1, a sarcomeric actin-binding protein,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a464f780005944c110f13b4ab85d6aa
https://doi.org/10.2139/ssrn.3858980
https://doi.org/10.2139/ssrn.3858980
Autor:
Polakit Teekakirikul, Wenjuan Zhu, Xinxiu Xu, Cullen B. Young, Tuantuan Tan, Amanda M. Smith, Chengdong Wang, Kevin A. Peterson, George C. Gabriel, Sebastian Ho, Yi Sheng, Anne Moreau de Bellaing, Daniel A. Sonnenberg, Jiuann-huey Lin, Elisavet Fotiou, Gennadiy Tenin, Michael X. Wang, Yijen L. Wu, Timothy Feinstein, William Devine, Honglan Gou, Abha S. Bais, Benjamin J. Glennon, Maliha Zahid, Timothy C. Wong, Ferhaan Ahmad, Michael J. Rynkiewicz, William J. Lehman, Bernard Keavney, Tero-Pekka Alastalo, Mary-Louise Freckmann, Kyle Orwig, Steve Murray, Stephanie M. Ware, Hui Zhao, Brian Feingold, Cecilia W. Lo
Publikováno v:
Cell Reports Medicine. 3:100501
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cfeb432709693b56692bb79ea4fe65e
https://doi.org/10.1016/j.xcrm.2021.100501
https://doi.org/10.1016/j.xcrm.2021.100501
Autor:
Martin Baron, John O'Sullivan, Elisavet Fotiou, Kathryn E. Hentges, Jeroen Breckpot, Mathieu Bourgey, Barbara J.M. Mulder, Alex V. Postma, William G. Newman, Connie R. Bezzina, Frances A. Bu'Lock, Marc Gewillig, Koenraad Devriendt, Graham Stuart, Heather J. Cordell, Bernard Keavney, David Brook, Robert Eveleigh, Simon G. Williams, Matthieu J. Miossec, James R. Bentham, Mauro Santibanez-Koref, Louise Sutcliffe, Mark Lathrop, Ana Töpf, Donna J. Page, Sally L. Dunwoodie, Richard M. Monaghan, Sanjeev S. Bhaskar, Kerry Setchfield, Guillaume Bourque, David S. Winlaw, Shoumo Bhattacharya, Graeme C.M. Black
Publikováno v:
Young Investigators Award.
Introduction There is strong evidence from familial recurrence studies for a genetic predisposition to sporadic, non-syndromic Tetralogy of Fallot (TOF). TOF is the most common, cyanotic congenital heart disease (CHD) phenotype yet the cause for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd97b941c4bba120bf4aed8b79315e29
https://doi.org/10.1136/heartjnl-2019-bcs.226
https://doi.org/10.1136/heartjnl-2019-bcs.226
Autor:
Julie Vogt, Steve Jeffery, Cyril Mignot, Stanley G. Rockson, Glen Brice, Iona Jeffery, Michael Snyder, Sahar Mansour, Peter S. Mortimer, Silvia Martin-Almedina, Pia Ostergaard, Kristiana Gordon, Michael A. Simpson, Shin Lin, Giles Atton, Tessa Homfray, Elisavet Fotiou, David C. Rees
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7953b62dd275d30715ad485a247aea2
https://openaccess.sgul.ac.uk/id/eprint/110847/1/s41467-019-09905-4.pdf
https://openaccess.sgul.ac.uk/id/eprint/110847/1/s41467-019-09905-4.pdf
Autor:
Kathryn E. Hentges, Robert Eveleigh, Mathieu Bourgey, Barbara J.M. Mulder, William G. Newman, Shoumo Bhattacharya, Sally L. Dunwoodie, Frances A. Bu'Lock, Ana Töpf, Richard M. Monaghan, Elisavet Fotiou, Graham Stuart, Simon G. Williams, Marc Gewillig, Connie R. Bezzina, Alex V. Postma, Guillaume Bourque, Kerry Setchfield, G. Mark Lathrop, Koenraad Devriendt, D Winlaw, J. David Brook, Heather J. Cordell, Graeme C.M. Black, James R. Bentham, Bernard Keavney, Mauro Santibanez-Koref, Matthieu J. Miossec, Louise Sutcliffe, Donna J. Page, Sanjeev S. Bhaskar, Martin Baron, John O'Sullivan, Jeroen Breckpot
Publikováno v:
Page, D J, Miossec, M J, Williams, S G, Monaghan, R M, Fotiou, E, Cordell, H J, Sutcliffe, L, Topf, A, Bourgey, M, Bourque, G, Eveleigh, R, Dunwoodie, S L, Winlaw, D S, Bhattacharya, S, Breckpot, J, Devriendt, K, Gewillig, M, Brook, J D, Setchfield, K J, Bu'Lock, F A, O'Sullivan, J, Stuart, G, Bezzina, C R, Mulder, B J M, Postma, A V, Bentham, J R, Baron, M, Bhaskar, S S, Black, G C, Newman, W G, Hentges, K E, Lathrop, G M, Santibanez-Koref, M & Keavney, B D 2019, ' Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot ', Circulation research, vol. 124, no. 4, pp. 553-563 . https://doi.org/10.1161/CIRCRESAHA.118.313250, https://doi.org/10.1161/CIRCRESAHA.118.313250
Circulation research, 124(4), 553-563. Lippincott Williams and Wilkins
Circulation research, 124(4), 553-563. Lippincott Williams and Wilkins
Rationale: Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ef130c9628a90cd791742dc7a84be5
https://lirias.kuleuven.be/handle/123456789/631749
https://lirias.kuleuven.be/handle/123456789/631749