Identification of Transcribed Sequences

Por Brook, J David
Publicado em 1995

Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics

Por Granados-Riveron, Javier T., Brook, J. David
Publicado em 2012

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Por Fardaei, Majid, Larkin, Ken, Brook, J. David, Hamshere, Marion G.
Publicado em 2001

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

Por Hamshere, Marion G., Newman, Emma E., Alwazzan, Madawi, Athwal, Balwinder S., Brook, J. David
Publicado em 1997

The miR-30 MicroRNA Family Targets smoothened to Regulate Hedgehog Signalling in Zebrafish Early Muscle Development

Por Ketley, Ami, Warren, Anne, Holmes, Emily, Gering, Martin, Aboobaker, A. Aziz, Brook, J. David
Publicado em 2013

Correction: The miR-30 MicroRNA Family Targets smoothened to Regulate Hedgehog Signalling in Zebrafish Early Muscle Development

Por Ketley, Ami, Warren, Anne, Holmes, Emily, Gering, Martin, Aboobaker, A. Aziz, Brook, J. David
Publicado em 2013

Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis

Por Rutland, Catrin, Warner, Louise, Thorpe, Aaran, Alibhai, Aziza, Robinson, Thelma, Shaw, Barry, Layfield, Robert, Brook, J David, Loughna, Siobhan
Publicado em 2009

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Por Machuca-Tzili, Laura E., Buxton, Sarah, Thorpe, Aaran, Timson, Cathy M., Wigmore, Peter, Luther, Pradeep K., Brook, J. David
Publicado em 2011

Muscleblind-Like Proteins : Similarities and Differences in Normal and Myotonic Dystrophy Muscle

Por Holt, Ian, Jacquemin, Virginie, Fardaei, Majid, Sewry, Caroline A., Butler-Browne, Gillian S., Furling, Denis, Brook, J. David, Morris, Glenn E.
Publicado em 2009

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

Por Paul, Sharan, Dansithong, Warunee, Jog, Sonali P., Holt, Ian, Mittal, Saloni, Brook, J. David, Morris, Glenn E., Comai, Lucio, Reddy, Sita
Publicado em 2011

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Por Ghosh, Tushar K., Song, Fei Fei, Packham, Elizabeth A., Buxton, Sarah, Robinson, Thelma E., Ronksley, Jonathan, Self, Tim, Bonser, Andrew J., Brook, J. David
Publicado em 2009

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Por Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David
Publicado em 2012

Mutations in SOX9, the Gene Responsible for Campomelic Dysplasia and Autosomal Sex Reversal

Por Kwok, Cheni, Weller, Polly A., Guioli, Silvana, Foster, Jamie W., Mansour, Sahar, Zuffardi, Orsetta, Punnett, Hope H., Dominguez-Steglich, Marina A., Brook, J. David, Young, Ian D., Goodfellow, Peter N., Schafer, Alan J.
Publicado em 1995

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

Por Palomino Doza, Julian, Topf, Ana, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J David, Granados-Riveron, Javier, Bu’Lock, Frances A, O’Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Relton, Caroline, Goodship, Judith, Henderson, Deborah J, Keavney, Bernard
Publicado em 2013

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy ce...

Por Ketley, Ami, Chen, Catherine Z., Li, Xin, Arya, Sukrat, Robinson, Thelma E., Granados-Riveron, Javier, Udosen, Inyang, Morris, Glenn E., Holt, Ian, Furling, Denis, Chaouch, Soraya, Haworth, Ben, Southall, Noel, Shinn, Paul, Zheng, Wei, Austin, Christopher P., Hayes, Christopher J., Brook, J. David
Publicado em 2014

Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation

Por Griffin, Helen R., Hall, Darroch H., Topf, Ana, Eden, James, Stuart, A. Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John E., O'Sullivan, John, Babu-Narayan, Sonya V., Gatzoulis, Michael A., Bu'Lock, Frances A., Bhattacharya, Shoumo, Bentham, Jamie, Farrall, Martin, Granados Riveron, Javier, Brook, J. David, Burn, John, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard
Publicado em 2009

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Por 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.
Publicado em 2012

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Por 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.
Publicado em 2012

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Por Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.
Publicado em 2013

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado em 2014