Zobrazeno 1 - 10
of 79
pro vyhledávání: '"J David Brook"'
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
Externí odkaz:
https://doaj.org/article/ee3c8898ef0a43729adf837c70afaa5a
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an in
Externí odkaz:
https://doaj.org/article/92067f3613e64d39b29f8fdaa8154ba8
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e65170 (2013)
The importance of microRNAs in development is now widely accepted. However, identifying the specific targets of individual microRNAs and understanding their biological significance remains a major challenge. We have used the zebrafish model system to
Externí odkaz:
https://doaj.org/article/f2dfd071db164275a8e102dfac5438ed
Autor:
Helen R Griffin, Darroch H Hall, Ana Topf, James Eden, A Graham Stuart, Jonathan Parsons, Ian Peart, John E Deanfield, John O'Sullivan, Sonya V Babu-Narayan, Michael A Gatzoulis, Frances A Bu'lock, Shoumo Bhattacharya, Jamie Bentham, Martin Farrall, Javier Granados Riveron, J David Brook, John Burn, Heather J Cordell, Judith A Goodship, Bernard Keavney
Publikováno v:
PLoS ONE, Vol 4, Iss 3, p e4978 (2009)
Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and n
Externí odkaz:
https://doaj.org/article/2c26e9e99a944adc87ae6fd42ea845bd
Publikováno v:
Journal of Neurology. 269:2784-2787
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
TBX5 is a T-box family transcription factor that regulates heart and forelimb development in vertebrates and functional deficiencies in this protein result in Holt-Oram syndrome. Recently, we have shown that acetylation of TBX5 potentiates its activi
Autor:
Philippine C. Geiszler, Rebecca C. Trueman, Tushar K. Ghosh, Marzena Wojciechowska, David H. Drewry, Ami Ketley, Martin Rüdiger, Marcus Bantscheff, Zhen Zhi Tang, Rudolf Billeter-Clark, Naveed Altaf Malik, Danuta E. Mossakowska, Sonja Ghidelli-Disse, Paulina K. Powalowska, Othman Ahmad Othman, Markus Bösche, Christopher J. Hayes, Charles A. Thornton, Matthew K Tanner, Marta Lopez Morato, William J. Zuercher, Gerard Drewes, J. David Brook, Saam Sedehizadeh, Alessandra Agostini, Paul Bamborough, Iain Uings
Publikováno v:
Science Translational Medicine. 12
Myotonic dystrophy type 1 (DM1) is an RNA-based disease with no current treatment. It is caused by a transcribed CTG repeat expansion within the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Mutant repeat expansion tr
Autor:
Canan Doganli, Gregor Dombrowsky, Alejandro Sifrim, J. David Brook, Marc-Phillip Hitz, Sabrina Gade Ellesøe, Natasja Spring Ehlers, Marlene Danner Dalgaard, Lars Allan Larsen, Marc Gewillig, Anna Wilsdon, Enrique Audain, Jeroen Breckpot, Søren Brunak, Bernard Thienpont, Jose M. G. Izarzugaza
BackgroundCongenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease aetiology. The aim of the st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45345a4a5d80fff7b69a043af6c9841
Autor:
Tushar K. Ghosh, Tasabeeh Mohamed, Siobhan Loughna, Catrin S. Rutland, Ami Ketley, Sarah Buxton, José J. Aparicio-Sánchez, J. David Brook
Publikováno v:
Journal of Molecular and Cellular Cardiology. 114:185-198
TBX5 plays a critical role in heart and forelimb development. Mutations in TBX5 cause Holt-Oram syndrome, an autosomal dominant condition that affects the formation of the heart and upper-limb. Several studies have provided significant insight into t