Items where Subject is "QH0460 Mutations"

Up a level
Export as [feed] RSS
Group by: Authors | Item Type
Jump to: Article | Thesis | Dataset
Number of items at this level: 35.

Article

Baeissa, Hanadi M and Pearl, Frances M G (2019) Identifying the impact of inframe insertions and deletions on protein function in cancer. Journal of Computational Biology. ISSN 1066-5277

Bassing, Craig H, Ranganath, Sheila, Murphy, Mike, Savic, Velibor, Gleason, Meagan and Alt, Frederick W (2008) Aberrant V(D)J recombination is not required for rapid development of H2ax/p53-deficient thymic lymphomas with clonal translocations. Blood, 111 (4). pp. 2163-2169. ISSN 0006-4971

Bergman, Juraj, Eyre-Walker, Adam and Unset (2019) Does adaptive protein evolution proceed by large or small steps at the amino acid level? Molecular Biology and Evolution, 36 (5). pp. 990-998. ISSN 0737-4038

Carballo, Jesús A and Cha, Rita S (2007) Meiotic roles of Mec1, a budding yeast homolog of mammalian ATR/ATM. Chromosome Research, 15 (5). pp. 539-550. ISSN 0967-3849

Carballo, Jesús A, Johnson, Anthony L, Sedgwick, Steven G and Cha, Rita S (2008) Phosphorylation of the axial element protein Hop1 by Mec1/Tel1 ensures meiotic interhomolog recombination. Cell, 132 (5). pp. 758-770. ISSN 0092-8674

Carballo, Jesús A, Panizza, Silvia, Serrentino, Maria Elisabetta, Johnson, Anthony L, Geymonat, Marco, Borde, Valérie, Klein, Franz and Cha, Rita S (2013) Budding yeast ATM/ATR control meiotic double-strand break (DSB) levels by down-regulating Rec114, an essential component of the DSB-machinery. PLoS Genetics, 9 (6). e1003545. ISSN 1553-7390

Carballo, Jesús A, Pincheira, Juana and de la Torre, Consuelo (2006) The G2 checkpoint activated by DNA damage does not prevent genome instability in plant cells. Biological Research, 39 (2). pp. 331-340. ISSN 0716-9760

Eyre-Walker, Adam and Eyre-Walker, Ying Chen (2014) How much of the variation in the mutation rate along the human genome can be explained? G3, 4 (9). pp. 1667-1670. ISSN 2160-1836

Gilks, William P, Abbott, Jessica K and Morrow, Edward H (2014) Sex differences in disease genetics: evidence, evolution, and detection. Trends in Genetics, 30 (10). pp. 453-463. ISSN 0168-9525

Gilks, William P, Pennell, Tanya M, Flis, Ilona, Webster, Matthew T and Morrow, Edward H (2016) Whole genome resequencing of a laboratory-adapted Drosophila melanogaster population sample. F1000Research, 5. a2644. ISSN 2046-1402

Gossmann, Toni I, Waxman, David and Eyre-Walker, Adam (2014) Fluctuating selection models and Mcdonald-Kreitman type analyses. PLoS ONE, 9 (1). e84540. ISSN 1932-6203

Gudjonsson, Thorkell, Altmeyer, Matthias, Savic, Velibor, Toledo, Luis, Dinant, Christoffel, Grøfte, Merete, Bartkova, Jirina, Poulsen, Maria, Oka, Yasuyoshi, Bekker-Jensen, Simon, Mailand, Niels, Neumann, Beate, Heriche, Jean-Karim, Shearer, Robert, Saunders, Darren, Bartek, Jiri, Lukas, Jiri and Lukas, Claudia (2012) TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes. Cell, 150 (4). pp. 697-709. ISSN 1097-4172

Karasozen, Yigit, Osbun, Joshua W, Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F, Hale, Christopher J, Alcantara, Diana, O'Driscoll, Mark, Dobyns, William B, Murray, Mitzi, Kim, Louis J, Byers, Peter, Dorschner, Michael O and Ferreira, Manuel (2019) Somatic PDGFRB activating variants in fusiform cerebral aneurysms. American Journal of Human Genetics, 104 (5). pp. 968-976. ISSN 1537-6605

Keszthelyi, Andrea, Minchell, Nicola and Baxter, Jon (2016) The causes and consequences of topological stress during DNA replication. Genes, 7 (12). p. 134. ISSN 2073-4425

Lanfear, Robert, Kokko, Hanna and Eyre-Walker, Adam (2014) Population size and the rate of evolution. Trends in Ecology and Evolution, 29 (1). pp. 33-41. ISSN 0169-5347

Legan, Kevin, Goodyear, Richard, Morin, Matias, Mencia, Angeles, Pollard, Hilary, Olavarrieta, Leticia, Korchagina, Julia Jurievna, Modiamo-Hoybjor, Silvia, Mayo, Fernando, Moreno, Felipe, Moreno-Pelayo, Miguel-Angel and Richardson, Guy (2014) Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. Human Molecular Genetics, 23 (10). pp. 2551-2568. ISSN 0964-6906

Machin, Felix, Torres-Rosell, Jordi, De Piccoli, Giacomo, Carballo, Jesus, Cha, Rita, Jarmuz, Adam and Aragon, Luis (2006) Transcription of ribosomal genes can cause nondisjunction. The Journal of Cell Biology (JCB), 173 (6). pp. 893-903. ISSN 0021-9525

Minchell, Nicola Elizabeth, Keszthelyi, Andrea and Baxter, Jonathan (2020) Cohesin causes replicative DNA damage by trapping DNA topological stress. Molecular cell, 78 (4). pp. 739-751. ISSN 1097-2765

Savic, Velibor, Sanborn, Keri B, Orange, Jordan S and Bassing, Craig H (2009) Chipping away at gamma-H2AX foci. Cell Cycle, 8 (20). pp. 3285-3290. ISSN 1538-4101

Savic, Velibor, Yin, Bu, Maas, Nancy L, Bredemeyer, Andrea L, Carpenter, Andrea C, Helmink, Beth A, Yang-Iott, Katherine S, Sleckman, Barry P and Bassing, Craig H (2009) Formation of dynamic gamma-H2AX domains along broken DNA strands is distinctly regulated by ATM and MDC1 and dependent upon H2AX densities in chromatin. Molecular Cell, 34 (3). pp. 298-310. ISSN 1097-2765

Towler, Benjamin P, Jones, Christopher I, Harper, Kirsty L, Waldron, Joseph A and Newbury, Sarah F (2016) A novel role for the 3′-5′ exoribonuclease Dis3L2 in controlling cell proliferation and tissue growth. RNA Biology, 13 (12). pp. 1286-1299. ISSN 1547-6286

Valente, Enza Maria, Abou-Sleiman, Patrick M, Caputo, Viviana, Muqit, Miratul M K, Harvey, Kirsten, Gispert, Suzana, Ali, Zeeshan, Del Turco, Domenico, Bentivoglio, Anna Rita, Healy, Daniel G, Albanese, Alberto, Nussbaum, Robert, González-Maldonado, Rafael, Deller, Thomas, Salvi, Sergio, Cortelli, Pietro, Gilks, William P, Latchman, David S, Harvey, Robert J, Dallapiccola, Bruno, Auburger, Georg and Wood, Nicholas W (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 304 (5674). pp. 1158-60. ISSN 1095-9203

Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J and O'Driscoll, Mark (2019) Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. American Journal of Human Genetics, 104 (5). pp. 957-967. ISSN 1537-6605

Yin, Bu, Savic, Velibor and Bassing, Craig H (2007) ATM prevents unattended DNA double strand breaks on site and in generations to come. Cancer Biology and Therapy, 6 (12). pp. 1837-1839. ISSN 1538-4047

Yin, Bu, Savic, Velibor, Juntilla, Marisa M, Bredemeyer, Andrea L, Yang-Iott, Katherine S, Helmink, Beth A, Koretzky, Gary A, Sleckman, Barry P and Bassing, Craig H (2009) Histone H2AX stabilizes broken DNA strands to suppress chromosome breaks and translocations during V(D)J recombination. Journal of Experimental Medicine, 206 (12). pp. 2625-2639. ISSN 0022-1007

Thesis

Bedir, Marisa (2020) Uncovering novel roles of Cyclophilin A in genome stability, cell cycle and cancers. Doctoral thesis (PhD), University of Sussex.

Gossmann, Toni Ingolf (2012) Investigating genome wide patterns of natural selection in eukaryotes. Doctoral thesis (PhD), University of Sussex.

Hart, Lesley Ruth (2013) Dissecting the genotype to phenotype relationships of genomic disorders. Doctoral thesis (PhD), University of Sussex.

Wells, Owen Spencer (2014) Cellular and biochemical analyses of TDP1 mediated chromosomal break repair. Doctoral thesis (PhD), University of Sussex.

Dataset

Gilks, William (2016) Graphing and tabulating next-generation sequencing and genotyping data. [Dataset]

Gilks, William (2016) Read-mapping for next-generation sequencing data (Drosophila melanogaster). [Dataset]

Gilks, William (2016) Read-mapping for next-generation sequencing data (Wolbachia). [Dataset]

Gilks, William (2016) SNP and indel discovery and genotyping in next-generation sequencing data. [Dataset]

Gilks, William (2016) Structural variant discovery and genotyping in next-generation sequencing data. [Dataset]

Gilks, William P, Pennell, Tanya M, Flis, Ilona and Webster, Matthew T (2016) Genotype reproducibility testing in next-generation sequencing data. [Dataset]

This list was generated on Sun Aug 14 15:55:38 2022 BST.