Search Results - "Hubbard, Tim J.P"

Mining Social Media Data to Study the Consequences of Dementia Diagnosis on Caregivers and Relatives by Gkotsis, George, Mueller, Christoph, Dobson, Richard J B, Hubbard, Tim J P, Dutta, Rina

“…Caregivers for people with dementia face a number of challenges such as changing family relationships, social isolation, or financial difficulties. Internet…”
Get more information

The Solution Structure of the S1 RNA Binding Domain: A Member of an Ancient Nucleic Acid–Binding Fold by Bycroft, Mark, Hubbard, Tim J.P, Proctor, Mark, Freund, Stefan M.V, Murzin, Alexey G

“…The S1 domain, originally identified in ribosomal protein S1, is found in a large number of RNA-associated proteins. The structure of the S1 RNA-binding domain…”
Get full text

Data growth and its impact on the SCOP database: new developments by Andreeva, Antonina, Howorth, Dave, Chandonia, John-Marc, Brenner, Steven E, Hubbard, Tim J.P, Chothia, Cyrus, Murzin, Alexey G

“…The Structural Classification of Proteins (SCOP) database is a comprehensive ordering of all proteins of known structure, according to their evolutionary and…”
Get full text

A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis by Bäckdahl, Liselotte, Li, Heng, Jackson, David K, Howe, Kevin L, Tavaré, Simon, Gräf, Stefan, Herrero, Javier, Johnson, Nathan, Durbin, Richard, Thorne, Natalie P, Turner, Daniel J, Tomazou, Eleni M, Miretti, Marcos M, Birney, Ewan, Hubbard, Tim J P, Beck, Stephan, Rakyan, Vardhman K, Herberth, Marlis, Marioni, John C, Down, Thomas A, Flicek, Paul, Kulesha, Eugene

“…An inability to estimate absolute DNA methylation levels has slowed progress in understanding the role of this epigenetic modification in health and disease…”
Get full text

An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs) by Rakyan, Vardhman K, Down, Thomas A, Thorne, Natalie P, Flicek, Paul, Kulesha, Eugene, Gräf, Stefan, Tomazou, Eleni M, Bäckdahl, Liselotte, Johnson, Nathan, Herberth, Marlis, Howe, Kevin L, Jackson, David K, Miretti, Marcos M, Fiegler, Heike, Marioni, John C, Birney, Ewan, Hubbard, Tim J P, Carter, Nigel P, Tavaré, Simon, Beck, Stephan

“…We report a novel resource (methylation profiles of DNA, or mPod) for human genome-wide tissue-specific DNA methylation profiles. mPod consists of three fully…”
Get full text

SISYPHUS--structural alignments for proteins with non-trivial relationships by Andreeva, Antonina, Prlić, Andreas, Hubbard, Tim J.P, Murzin, Alexey G

“…With the increasing amount of structural data, the number of homologous protein structures bearing topological irregularities is steadily growing. These…”
Get full text

Large-scale discovery of promoter motifs in Drosophila melanogaster by Down, Thomas A, Bergman, Casey M, Su, Jing, Hubbard, Tim J P

“…A key step in understanding gene regulation is to identify the repertoire of transcription factor binding motifs (TFBMs) that form the building blocks of…”
Get full text

Characterisation of mental health conditions in social media using Informed Deep Learning by Gkotsis, George, Oellrich, Anika, Velupillai, Sumithra, Liakata, Maria, Hubbard, Tim J. P., Dobson, Richard J. B., Dutta, Rina

“…The number of people affected by mental illness is on the increase and with it the burden on health and social care use, as well as the loss of both…”
Get full text

Ensembl 2014 by Flicek, Paul, Amode, M Ridwan, Barrell, Daniel, Beal, Kathryn, Billis, Konstantinos, Brent, Simon, Carvalho-Silva, Denise, Clapham, Peter, Coates, Guy, Fitzgerald, Stephen, Gil, Laurent, Girón, Carlos García, Gordon, Leo, Hourlier, Thibaut, Hunt, Sarah, Johnson, Nathan, Juettemann, Thomas, Kähäri, Andreas K, Keenan, Stephen, Kulesha, Eugene, Martin, Fergal J, Maurel, Thomas, McLaren, William M, Murphy, Daniel N, Nag, Rishi, Overduin, Bert, Pignatelli, Miguel, Pritchard, Bethan, Pritchard, Emily, Riat, Harpreet S, Ruffier, Magali, Sheppard, Daniel, Taylor, Kieron, Thormann, Anja, Trevanion, Stephen J, Vullo, Alessandro, Wilder, Steven P, Wilson, Mark, Zadissa, Amonida, Aken, Bronwen L, Birney, Ewan, Cunningham, Fiona, Harrow, Jennifer, Herrero, Javier, Hubbard, Tim J P, Kinsella, Rhoda, Muffato, Matthieu, Parker, Anne, Spudich, Giulietta, Yates, Andy, Zerbino, Daniel R, Searle, Stephen M J

“…Ensembl (http://www.ensembl.org) creates tools and data resources to facilitate genomic analysis in chordate species with an emphasis on human, major…”
Get full text

Ensembl 2012 by Flicek, Paul, Amode, M. Ridwan, Barrell, Daniel, Beal, Kathryn, Brent, Simon, Carvalho-Silva, Denise, Clapham, Peter, Coates, Guy, Fairley, Susan, Fitzgerald, Stephen, Gil, Laurent, Gordon, Leo, Hendrix, Maurice, Hourlier, Thibaut, Johnson, Nathan, Kähäri, Andreas K., Keefe, Damian, Keenan, Stephen, Kinsella, Rhoda, Komorowska, Monika, Koscielny, Gautier, Kulesha, Eugene, Larsson, Pontus, Longden, Ian, McLaren, William, Muffato, Matthieu, Overduin, Bert, Pignatelli, Miguel, Pritchard, Bethan, Riat, Harpreet Singh, Ritchie, Graham R. S., Ruffier, Magali, Schuster, Michael, Sobral, Daniel, Tang, Y. Amy, Taylor, Kieron, Trevanion, Stephen, Vandrovcova, Jana, White, Simon, Wilson, Mark, Wilder, Steven P., Aken, Bronwen L., Birney, Ewan, Cunningham, Fiona, Dunham, Ian, Durbin, Richard, Fernández-Suarez, Xosé M., Harrow, Jennifer, Herrero, Javier, Hubbard, Tim J. P., Parker, Anne, Proctor, Glenn, Spudich, Giulietta, Vogel, Jan, Yates, Andy, Zadissa, Amonida, Searle, Stephen M. J.

“…The Ensembl project (http://www.ensembl.org) provides genome resources for chordate genomes with a particular focus on human genome data as well as data for…”
Get full text

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline by Reijns, Martin A. M., Parry, David A., Williams, Thomas C., Nadeu, Ferran, Hindshaw, Rebecca L., Rios Szwed, Diana O., Nicholson, Michael D., Carroll, Paula, Boyle, Shelagh, Royo, Romina, Cornish, Alex J., Xiang, Hang, Ridout, Kate, Schuh, Anna, Aden, Konrad, Palles, Claire, Campo, Elias, Stankovic, Tatjana, Taylor, Martin S., Jackson, Andrew P.

“…The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair…”
Get full text

Comparative analysis of the transcriptome across distant species by Gerstein, Mark B., Rozowsky, Joel, Yan, Koon-Kiu, Wang, Daifeng, Cheng, Chao, Brown, James B., Davis, Carrie A., Hillier, LaDeana, Sisu, Cristina, Li, Jingyi Jessica, Pei, Baikang, Harmanci, Arif O., Duff, Michael O., Djebali, Sarah, Alexander, Roger P., Alver, Burak H., Auerbach, Raymond, Bell, Kimberly, Bickel, Peter J., Boeck, Max E., Boley, Nathan P., Booth, Benjamin W., Cherbas, Lucy, Cherbas, Peter, Di, Chao, Dobin, Alex, Drenkow, Jorg, Ewing, Brent, Fang, Gang, Fastuca, Megan, Feingold, Elise A., Frankish, Adam, Gao, Guanjun, Good, Peter J., Guigó, Roderic, Hammonds, Ann, Harrow, Jen, Hoskins, Roger A., Howald, Cédric, Hu, Long, Huang, Haiyan, Hubbard, Tim J. P., Huynh, Chau, Jha, Sonali, Kasper, Dionna, Kato, Masaomi, Kaufman, Thomas C., Kitchen, Robert R., Ladewig, Erik, Lagarde, Julien, Lai, Eric, Leng, Jing, Lu, Zhi, MacCoss, Michael, May, Gemma, McWhirter, Rebecca, Merrihew, Gennifer, Miller, David M., Mortazavi, Ali, Murad, Rabi, Oliver, Brian, Olson, Sara, Park, Peter J., Pazin, Michael J., Perrimon, Norbert, Pervouchine, Dmitri, Reinke, Valerie, Reymond, Alexandre, Robinson, Garrett, Samsonova, Anastasia, Saunders, Gary I., Schlesinger, Felix, Sethi, Anurag, Slack, Frank J., Spencer, William C., Stoiber, Marcus H., Strasbourger, Pnina, Tanzer, Andrea, Thompson, Owen A., Wan, Kenneth H., Wang, Guilin, Wang, Huaien, Watkins, Kathie L., Wen, Jiayu, Wen, Kejia, Xue, Chenghai, Yang, Li, Yip, Kevin, Zaleski, Chris, Zhang, Yan, Zheng, Henry, Brenner, Steven E., Graveley, Brenton R., Celniker, Susan E., Gingeras, Thomas R., Waterston, Robert

“…Uniform processing and detailed annotation of human, worm and fly RNA-sequencing data reveal ancient, conserved features of the transcriptome, shared…”
Get full text

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition by Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M

“…Abstract Dravet syndrome is an archetypal rare severe epilepsy, considered ‘monogenic’, typically caused by loss-of-function SCN1A variants. Despite a…”
Get full text

Ensembl 2011 by Flicek, Paul, Amode, M. Ridwan, Barrell, Daniel, Beal, Kathryn, Brent, Simon, Chen, Yuan, Clapham, Peter, Coates, Guy, Fairley, Susan, Fitzgerald, Stephen, Gordon, Leo, Hendrix, Maurice, Hourlier, Thibaut, Johnson, Nathan, Kähäri, Andreas, Keefe, Damian, Keenan, Stephen, Kinsella, Rhoda, Kokocinski, Felix, Kulesha, Eugene, Larsson, Pontus, Longden, Ian, McLaren, William, Overduin, Bert, Pritchard, Bethan, Riat, Harpreet Singh, Rios, Daniel, Ritchie, Graham R.S, Ruffier, Magali, Schuster, Michael, Sobral, Daniel, Spudich, Giulietta, Tang, Y. Amy, Trevanion, Stephen, Vandrovcova, Jana, Vilella, Albert J, White, Simon, Wilder, Steven P, Zadissa, Amonida, Zamora, Jorge, Aken, Bronwen L, Birney, Ewan, Cunningham, Fiona, Dunham, Ian, Durbin, Richard, Fernández-Suarez, Xosé M, Herrero, Javier, Hubbard, Tim J.P, Parker, Anne, Proctor, Glenn, Vogel, Jan, Searle, Stephen M.J

“…The Ensembl project (http://www.ensembl.org) seeks to enable genomic science by providing high quality, integrated annotation on chordate and selected…”
Get full text

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration by Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo

“…By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic…”
Get full text

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy by Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

“…The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain…”
Get full text

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage by Zou, Xueqing, Koh, Gene Ching Chiek, Nanda, Arjun Scott, Degasperi, Andrea, Urgo, Katie, Roumeliotis, Theodoros I, Agu, Chukwuma A, Badja, Cherif, Momen, Sophie, Young, Jamie, Amarante, Tauanne Dias, Side, Lucy, Brice, Glen, Perez-Alonso, Vanesa, Rueda, Daniel, Gomez, Celine, Bushell, Wendy, Harris, Rebecca, Choudhary, Jyoti S, Jiricny, Josef, Skarnes, William C, Nik-Zainal, Serena

“…Mutational signatures are imprints of pathophysiological processes arising through tumorigenesis. We generated isogenic CRISPR-Cas9 knockouts (Δ) of 43 genes…”
Get full text

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease by Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., Halbritter, Jan

“…Autosomal dominant polycystic liver disease is a rare condition with a female preponderance, based mainly on pathogenic variants in 2 genes, PRKCSH and SEC63…”
Get full text

SCOP database in 2004: refinements integrate structure and sequence family data by Andreeva, Antonina, Howorth, Dave, Brenner, Steven E., Hubbard, Tim J. P., Chothia, Cyrus, Murzin, Alexey G.

“…The Structural Classification of Proteins (SCOP) database is a comprehensive ordering of all proteins of known structure, according to their evolutionary and…”
Get full text

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia by Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

“…Abstract Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a…”
Get full text