Search Results - "GIBBONS, Richard J"

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription by Schwab, Rebekka A., Nieminuszczy, Jadwiga, Shah, Fenil, Langton, Jamie, Lopez Martinez, David, Liang, Chih-Chao, Cohn, Martin A., Gibbons, Richard J., Deans, Andrew J., Niedzwiedz, Wojciech

“…DNA replication stress can cause chromosomal instability and tumor progression. One key pathway that counteracts replication stress and promotes faithful DNA…”
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ATRX plays a key role in maintaining silencing at interstitial heterochromatic loci and imprinted genes by Voon, Hsiao P.J, Hughes, Jim R., Rode, Christina, De La Rosa-Velázquez, Inti A., Jenuwein, Thomas, Feil, Robert, Higgs, Douglas R., Gibbons, Richard J.

“…Histone H3.3 is a replication-independent histone variant which replaces histones that are turned over throughout the entire cell cycle. H3.3 deposition at…”
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Induction of the alternative lengthening of telomeres pathway by trapping of proteins on DNA by Rose, Anna M, Goncalves, Tomas, Cunniffe, Siobhan, Geiller, Helene E B, Kent, Thomas, Shepherd, Sam, Ratnaweera, Malitha, O’Sullivan, Roderick J, Gibbons, Richard J, Clynes, David

“…Abstract Telomere maintenance is a hallmark of malignant cells and allows cancers to divide indefinitely. In some cancers, this is achieved through the…”
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Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia by Mettananda, Sachith, Fisher, Chris A., Hay, Deborah, Badat, Mohsin, Quek, Lynn, Clark, Kevin, Hublitz, Philip, Downes, Damien, Kerry, Jon, Gosden, Matthew, Telenius, Jelena, Sloane-Stanley, Jackie A., Faustino, Paula, Coelho, Andreia, Doondeea, Jessica, Usukhbayar, Batchimeg, Sopp, Paul, Sharpe, Jacqueline A., Hughes, Jim R., Vyas, Paresh, Gibbons, Richard J., Higgs, Douglas R.

“…β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and…”
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The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin by Truch, Julia, Downes, Damien J., Scott, Caroline, Gür, E. Ravza, Telenius, Jelena M., Repapi, Emmanouela, Schwessinger, Ron, Gosden, Matthew, Brown, Jill M., Taylor, Stephen, Cheong, Pak Leng, Hughes, Jim R., Higgs, Douglas R., Gibbons, Richard J.

“…The chromatin remodeller ATRX interacts with the histone chaperone DAXX to deposit the histone variant H3.3 at sites of nucleosome turnover. ATRX is known to…”
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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker by Bozhilov, Yavor K., Downes, Damien J., Telenius, Jelena, Marieke Oudelaar, A., Olivier, Emmanuel N., Mountford, Joanne C., Hughes, Jim R., Gibbons, Richard J., Higgs, Douglas R.

“…Many single nucleotide variants (SNVs) associated with human traits and genetic diseases are thought to alter the activity of existing regulatory elements…”
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Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin by Higgs, Douglas R, Neuhaus, David, Eustermann, Sebastian, Yang, Ji-Chun, Law, Martin J, Amos, Rachel, Chapman, Lynda M, Jelinska, Clare, Garrick, David, Clynes, David, Gibbons, Richard J, Rhodes, Daniela

“…Mutations in the ADD domain of ATRX protein lead to severe mental retardation. Now the importance of this domain for targeting ATRX to heterochromatin is…”
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ATRX dysfunction induces replication defects in primary mouse cells by Clynes, David, Jelinska, Clare, Xella, Barbara, Ayyub, Helena, Taylor, Stephen, Mitson, Matthew, Bachrati, Csanád Z, Higgs, Douglas R, Gibbons, Richard J

“…The chromatin remodeling protein ATRX, which targets tandem repetitive DNA, has been shown to be required for expression of the alpha globin genes, for…”
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An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment by Lynch, Magnus D, Smith, Andrew J H, De Gobbi, Marco, Flenley, Maria, Hughes, Jim R, Vernimmen, Douglas, Ayyub, Helena, Sharpe, Jacqueline A, Sloane-Stanley, Jacqueline A, Sutherland, Linda, Meek, Stephen, Burdon, Tom, Gibbons, Richard J, Garrick, David, Higgs, Douglas R

“…The role of DNA sequence in determining chromatin state is incompletely understood. We have previously demonstrated that large chromosomal segments from human…”
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Mutant IDH1 Promotes Glioma Formation In Vivo by Philip, Beatrice, Yu, Diana X., Silvis, Mark R., Shin, Clifford H., Robinson, James P., Robinson, Gemma L., Welker, Adam E., Angel, Stephanie N., Tripp, Sheryl R., Sonnen, Joshua A., VanBrocklin, Matthew W., Gibbons, Richard J., Looper, Ryan E., Colman, Howard, Holmen, Sheri L.

“…Isocitrate dehydrogenase 1 (IDH1) is the most commonly mutated gene in grade II–III glioma and secondary glioblastoma (GBM). A causal role for IDH1R132H in…”
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ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation by Marano, Domenico, Fioriniello, Salvatore, Fiorillo, Francesca, Gibbons, Richard J, D'Esposito, Maurizio, Della Ragione, Floriana

“…Methyl-CpG binding protein 2 (MeCP2) is a multi-function factor involved in locus-specific transcriptional modulation and the regulation of genome…”
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Intragenic Enhancers Act as Alternative Promoters by Kowalczyk, Monika S., Hughes, Jim R., Garrick, David, Lynch, Magnus D., Sharpe, Jacqueline A., Sloane-Stanley, Jacqueline A., McGowan, Simon J., De Gobbi, Marco, Hosseini, Mona, Vernimmen, Douglas, Brown, Jill M., Gray, Nicola E., Collavin, Licio, Gibbons, Richard J., Flint, Jonathan, Taylor, Stephen, Buckle, Veronica J., Milne, Thomas A., Wood, William G., Higgs, Douglas R.

“…A substantial amount of organismal complexity is thought to be encoded by enhancers which specify the location, timing, and levels of gene expression. In…”
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Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia by Mettananda, Sachith, Fisher, Christopher A, Sloane-Stanley, Jackie A, Taylor, Stephen, Oppermann, Udo, Gibbons, Richard J, Higgs, Douglas R

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Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression by Viprakasit, Vip, Ekwattanakit, Supachai, Riolueang, Suchada, Chalaow, Nipon, Fisher, Chris, Lower, Karen, Kanno, Hitoshi, Tachavanich, Kalaya, Bejrachandra, Sasithorn, Saipin, Jariya, Juntharaniyom, Monthana, Sanpakit, Kleebsabai, Tanphaichitr, Voravarn S., Songdej, Duantida, Babbs, Christian, Gibbons, Richard J., Philipsen, Sjaak, Higgs, Douglas R.

“…In this study, we report on 8 compound heterozygotes for mutations in the key erythroid transcription factor Krüppel-like factor 1 in patients who presented…”
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JAK2V617F promotes replication fork stalling with disease-restricted impairment of the intra-S checkpoint response by Chen, Edwin, Ahn, Jong Sook, Massie, Charlie E., Clynes, David, Godfrey, Anna L., Li, Juan, Park, Hyun Jung, Nangalia, Jyoti, Silber, Yvonne, Mullally, Ann, Gibbons, Richard J., Green, Anthony R.

“…Cancers result from the accumulation of genetic lesions, but the cellular consequences of driver mutations remain unclear, especially during the earliest…”
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Mutations in the chromatin-associated protein ATRX by Gibbons, Richard J, Wada, Takahito, Fisher, Christopher A, Malik, Nicola, Mitson, Matthew J, Steensma, David P, Fryer, Alan, Goudie, David R, Krantz, Ian D, Traeger-Synodinos, Joanne

“…ATRX belongs to the SNF2 family of proteins, many of which have been demonstrated to have chromatin remodeling activity. Constitution mutations in the…”
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Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter by De Gobbi, Marco, Viprakasit, Vip, Hughes, Jim R, Fisher, Chris, Buckle, Veronica J, Ayyub, Helena, Gibbons, Richard J, Vernimmen, Douglas, Yoshinaga, Yuko, de Jong, Pieter, Cheng, Jan-Fang, Rubin, Edward M, Wood, William G, Bowden, Don, Higgs, Douglas R

“…We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder α thalassemia. Association studies of affected individuals from…”
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Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX by Argentaro, Anthony, Yang, Ji-Chun, Chapman, Lynda, Kowalczyk, Monika S, Gibbons, Richard J, Higgs, Douglas R, Neuhaus, David, Rhodes, Daniela

“…The chromatin-associated protein ATRX was originally identified because mutations in the ATRX gene cause a severe form of syndromal X-linked mental retardation…”
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Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition by Lower, Karen M, Hughes, Jim R, De Gobbi, Marco, Henderson, Shirley, Viprakasit, Vip, Fisher, Chris, Goriely, Anne, Ayyub, Helena, Sloane-Stanley, Jackie, Vernimmen, Douglas, Langford, Cordelia, Garrick, David, Gibbons, Richard J, Higgs, Douglas R

“…It is well established that all of the cis-acting sequences required for fully regulated human α-globin expression are contained within a region of [almost…”
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Functional significance of mutations in the Snf2 domain of ATRX by MITSON, Matthew, KELLEY, Lawrence A, STERNBERG, Michael J. E, HIGGS, Douglas R, GIBBONS, Richard J

“…ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with…”
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