Search Results - "BROOK, J. David"

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease by Soemedi, Rachel, Wilson, Ian J., Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M., Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J., Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O’ Sullivan, John, Winlaw, David S., Bu’Lock, Frances, Brook, J. David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

“…Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global…”
Get full text

Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients by Sedehizadeh, Saam, Wojciechowska, Marzena, Ketley, Ami, Brook, J. David, Maddison, Paul

Get full text

The Impact of Mechanical Forces in Heart Morphogenesis by Granados-Riveron, Javier T, Brook, J David

Get full text

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects by Granados-Riveron, Javier T., Ghosh, Tushar K., Pope, Mark, Bu'Lock, Frances, Thornborough, Christopher, Eason, Jacqueline, Kirk, Edwin P., Fatkin, Diane, Feneley, Michael P., Harvey, Richard P., Armour, John A.L., David Brook, J.

“…Congenital heart defects (CHD) are collectively the most common form of congenital malformation. Studies of human cases and animal models have revealed that…”
Get full text

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy by Wojciechowska, Marzena, Sobczak, Krzysztof, Kozlowski, Piotr, Sedehizadeh, Saam, Wojtkowiak-Szlachcic, Agnieszka, Czubak, Karol, Markus, Robert, Lusakowska, Anna, Kaminska, Anna, Brook, J. David

“…Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes…”
Get full text

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls by Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

“…Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting…”
Get full text

Global Increase in Circular RNA Levels in Myotonic Dystrophy by Czubak, Karol, Taylor, Katarzyna, Piasecka, Agnieszka, Sobczak, Krzysztof, Kozlowska, Katarzyna, Philips, Anna, Sedehizadeh, Saam, Brook, J David, Wojciechowska, Marzena, Kozlowski, Piotr

“…Splicing aberrations induced as a consequence of the sequestration of muscleblind-like splicing factors on the dystrophia myotonica protein kinase transcript,…”
Get full text

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development by Ketley, Ami, Warren, Anne, Holmes, Emily, Gering, Martin, Aboobaker, A Aziz, Brook, J David

“…The importance of microRNAs in development is now widely accepted. However, identifying the specific targets of individual microRNAs and understanding their…”
Get full text

Oxidation of Electron Donor-Substituted Verdazyls: Building Blocks for Molecular Switches by Haller, Benjamin C, Chambers, Dallas, Cheng, Ran, Chemistruck, Victoria, Hom, Timothy F, Li, Zhengzheng, Nguyen, Jeffrey, Ichimura, Andrew, Brook, David J. R

“…Species that can undergo changes in electronic configuration as a result of an external stimulus such as pH or solvent polarity can play an important role in…”
Get full text

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development by Ghosh, Tushar K., Song, Fei Fei, Packham, Elizabeth A., Buxton, Sarah, Robinson, Thelma E., Ronksley, Jonathan, Self, Tim, Bonser, Andrew J., Brook, J. David

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
Get full text

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles by Holt, Ian, Mittal, Saloni, Furling, Denis, Butler-Browne, Gillian S, David Brook, J, Morris, Glenn E

“…Nuclear speckles are storage sites for small nuclear RNPs (snRNPs) and other splicing factors. Current ideas about the role of speckles suggest that some…”
Get full text

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex by Paul, Sharan, Dansithong, Warunee, Jog, Sonali P., Holt, Ian, Mittal, Saloni, Brook, J. David, Morris, Glenn E., Comai, Lucio, Reddy, Sita

“…To understand the role of the splice regulator muscleblind 1 (MBNL1) in the development of RNA splice defects in myotonic dystrophy I (DM1), we purified…”
Get full text

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease by Izarzugaza, Jose M G, Ellesøe, Sabrina G, Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D, Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J David, Hitz, Marc-Phillip, Larsen, Lars A, Brunak, Søren

“…Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to…”
Get full text

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20 by Hanchard, Neil A, Swaminathan, Shanker, Bucasas, Kristine, Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid S, Wang, Xueqing, Lewin, Mark, Towbin, Jeffrey A, D'Alessandro, Lisa C A, Morris, Shaine A, Dreyer, William, Denfield, Susan, Ayres, Nancy A, Franklin, Wayne J, Justino, Henri, Lantin-Hermoso, M Regina, Ocampo, Elena C, Santos, Alexia B, Parekh, Dhaval, Moodie, Douglas, Jeewa, Aamir, Lawrence, Emily, Allen, Hugh D, Penny, Daniel J, Fraser, Charles D, Lupski, James R, Popoola, Mojisola, Wadhwa, Lalita, Brook, J David, Bu'Lock, Frances A, Bhattacharya, Shoumo, Lalani, Seema R, Zender, Gloria A, Fitzgerald-Butt, Sara M, Bowman, Jessica, Corsmeier, Don, White, Peter, Lecerf, Kelsey, Zapata, Gladys, Hernandez, Patricia, Goodship, Judith A, Garg, Vidu, Keavney, Bernard D, Leal, Suzanne M, Cordell, Heather J, Belmont, John W, McBride, Kim L

“…Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies…”
Get full text

T-box genes in human disorders by Packham, Elizabeth A., Brook, J. David

“…The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other…”
Get full text

Imidazole-Substituted Oxoverdazyl Radical As a Mediator of Intramolecular and Intermolecular Exchange Interaction by Norel, Lucie, Pointillart, Fabrice, Train, Cyrille, Chamoreau, Lise-Marie, Boubekeur, Kamal, Journaux, Yves, Brieger, Aaron, Brook, David J. R

“…The 3-(2′-imidazolyl)-1,5-dimethyl-6-oxoverdazyl radical (imvd•) and the corresponding tetrazane H3imvd were prepared and structurally characterized, the…”
Get full text

Metal-ligand interactions in a redox active ligand system. Electrochemistry and spectroscopy of [M(dipyvd)2]n+ (M=Zn, Ni, n=0, 1, 2) by Fleming, Connor, Vu, Son, Brook, David J. R., Agrestini, Stefano, Pellegrin, Eric, DaRos, Jeffrey

“…Reaction of nickel and zinc triflates with the tridentate leucoverdazyl 1-isopropyl-3,5-di (2′-pyridyl)-6-oxo-2H-tetrazine (dipyvdH) and triethylamine resulted…”
Get full text

Alpha-cardiac actin mutations produce atrial septal defects by Matsson, Hans, Eason, Jacqueline, Bookwalter, Carol S., Klar, Joakim, Gustavsson, Peter, Sunnegårdh, Jan, Enell, Henrik, Jonzon, Anders, Vikkula, Miikka, Gutierrez, Ilse, Granados-Riveron, Javier, Pope, Mark, Bu’Lock, Frances, Cox, Jane, Robinson, Thelma E, Song, Feifei, Brook, David J, Marston, Steven, Trybus, Kathleen M., Dahl, Niklas

“…Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal…”
Get full text

Structure−Property Relationships of Stable Free Radicals: Verdazyls with Electron-Rich Aryl Substituents by Chemistruck, Victoria, Chambers, Dallas, Brook, David J. R

“…Substitution of the 3 position of 6-oxoverdazyl free radicals with electron-rich arylamines, phenols, and aryl ethers elicits changes in the UV−vis spectra and…”
Get full text

Mutation in myosin heavy chain 6 causes atrial septal defect by Brook, J David, Ching, Yung-Hao, Ghosh, Tushar K, Cross, Steve J, Packham, Elizabeth A, Honeyman, Louise, Loughna, Siobhan, Robinson, Thelma E, Dearlove, Andrew M, Ribas, Gloria, Bonser, Andrew J, Thomas, Neil R, Scotter, Andrew J, Caves, Leo S D, Tyrrell, Graham P, Newbury-Ecob, Ruth A, Munnich, Arnold, Bonnet, Damien

“…Atrial septal defect is one of the most common forms of congenital heart malformation. We identified a new locus linked with atrial septal defect on chromosome…”
Get full text