Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Katy Hills"'
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Patterns of somatic mutation in human cancer genomes
Autor: David N. Louis, Syd Barthorpe, Peter J. Campbell, Richard Wooster, Claire Stevens, Douglas F. Easton, Daniel P. Cahill, Ewan Birney, Keiran Raine, Simon A. Forbes, Gurpreet Bhamra, Jon Hinton, Michael R. Stratton, Tim Avis, Barbara L. Weber, Andy Menzies, Bhudipa Choudhury, Yoke Eng Chiew, Andrew D. Yates, Georgia Chenevix-Trench, Imre Vastrik, Gillian L. Dalgliesh, Andrew G. Nicholson, Alexandra Small, Ed Dicks, Janet Perry, Anthony R. Green, Sarah O’Meara, Raffaella Smith, Rachel Harrison, Bin Tean Teh, Sofie West, Tony Webb, Adam Butler, Sara Widaa, Gemma Buck, Rebecca Shepherd, Jennifer Cole, Sarah Edkins, Jennifer Varian, Peter Goldstraw, Andy Jenkinson, Jon W. Teague, Helen Davies, Sok Kean Khoo, Kris Gray, Suet Yi Leung, Calli Tofts, Dave Richardson, Christopher Greenman, P. Andrew Futreal, Tatiana Mironenko, Jody Clements, David T. Jones, Anna deFazio, Katy Hills, Kelly Halliday, Min-Han Tan, Siu Tsan Yuen, Philip J. Stephens, Christopher I. Hunter, Francis Brasseur, Leendert H. J. Looijenga, Mel Greaves, Esther Schmidt, Graham R. Bignell
Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for mutations would lead to the discovery of many addit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8181b6b39035a77f21373fb15d405e3d
https://europepmc.org/articles/PMC2712719/
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6
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Autor: Patrick S. Tarpey, Richard Wooster, Tatiana Mironenko, David T. Jones, Michael R. Stratton, Jackie Boyle, Claire Stevens, Sarah F. Smithson, Janet Perry, Alexandra Small, Kelly Halliday, Sara Widaa, Syd Barthorpe, Jennifer Varian, David S. Richardson, Anand Srivastava, Lucianne Vandeleur, Sarah O’Meara, Jozef Gecz, Charles E. Schwartz, Jenny Moon, Jennifer Cole, Ed Dicks, Tim Avis, Sarah Edkins, Susan E. Holder, Andrew Menzies, Roger E. Stevenson, Gillian Turner, Andrew M. Jenkinson, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Jill Clayton-Smith, Jane A. Hurst, Gemma Buck, Jayson Rodriguez, Rachel Harrison, Keiran Raine, Marie Shaw, Rebecca Shepherd, Katy Hills, Calli Tofts, Uma Mallya, Bronwyn Kerr, Adam Butler, Jon W. Teague, Rachel Slaugh, Sofie West, P. Andrew Futreal, Martin Bobrow, Michael Partington, Kristian Gray
We have identified three truncating, two splice-site, and three missense variants at conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental retardation (XLMR). During affected subjects' adolescence, a syndrome emerg
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02448979caa304c89b5488e2b60debc7
https://europepmc.org/articles/PMC1785336/
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7
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Autor: Syd Barthorpe, Mark A. Corbett, George Hoganson, Doug A. Brooks, John Teague, Richard Wooster, Claire Stevens, Charles E. Schwartz, Janet Perry, Jennifer Varian, Jennifer Cole, Sarah Edkins, P. Andrew Futreal, John P. Warner, Jayson Rodriguez, David S. Richardson, Anand Srivastava, Paul Q. Thomas, Jenny Moon, Gillian Turner, F. Lucy Raymond, Cheryl Shoubridge, Michael R. Stratton, Duane W Superneau, Andrew Menzies, Patrick S. Tarpey, Adam Butler, Lam Son Nguyen, Raffaella Smith, Martin Bobrow, Sofie West, Pauline Pearson, Tracy Sanderson, Sarah O’Meara, Katy Hills, Emma J. Parkinson-Lawrence, Jozef Gecz, Andrew M. Jenkinson, Rebecca Shepherd, Gemma Buck, Alison Gardner, Kelly Halliday, Josep Parnau, Anna Hackett, Keiran Raine, Richard J. Simensen, Sara Widaa, Cindy Skinner, Calli Tofts, Mary Porteous, Roger E. Stevenson, Tatiana Mironenko, Shambhu Bhat, David T. Jones, Lucianne Vandeleur, Ed Dicks, Yin Luo
Nonsense-mediated mRNA decay (NMD) is of universal biological significance1-3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fbdc66e723f0bfd983aba61027bf26
https://hdl.handle.net/1959.8/48618
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9
A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy
Autor: Claire Stevens, Jody Clements, Katy Hills, Ross Laman, Jennifer E. Roy, David S. Richardson, Jennifer Cole, Sarah Edkins, Christopher Greenman, Kelly Halliday, Sofie West, Helen Davies, Matthew Gorton, Sara Widaa, Richard Wooster, Adam Butler, Richard Lugg, Raffaella Smith, Tracy T. Batchelor, Lisa Brackenbury, Jon W. Teague, Gregory J. Riggins, Andy Jenkinson, Adrian Parker, Syd Barthorpe, Christopher I. Hunter, Simon A. Forbes, Michael R. Stratton, Wolf Mueller, Douglas F. Easton, Janet Perry, Jennifer Varian, Sarah O’Meara, David N. Louis, Helen Solomon, David T. Jones, Ed Dicks, Rachel Harrison, P. Andrew Futreal, Rebecca Shepherd, Philip J. Stephens, Keiran Raine, Tim Avis, Kristian Gray, Gemma Buck, Daniel P. Cahill, Andrew D. Yates, Vivienne Kosmidou, Jonathon Hinton, Robert Petty, Andrew Menzies, Graham R. Bignell, Calli Tofts, Alexandra Small, Kymberly K. Levine
Publikováno v: Cancer Res
Malignant gliomas have a very poor prognosis. The current standard of care for these cancers consists of extended adjuvant treatment with the alkylating agent temozolomide after surgical resection and radiotherapy. Although a statistically significan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa969034dc593f7ea0e864ded4c8df4
https://europepmc.org/articles/PMC7212022/
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10
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults
Autor: J. Wolter Oosterhuis, Tim Avis, Gemma Buck, Ruud J.H.L.M. van Gurp, Michael R. Stratton, Simon A. Forbes, Richard Wooster, Kelly Halliday, Adam Butler, Raffaella Smith, Philip J. Stephens, Lisa Brackenbury, Jody Clements, Jon W. Teague, Jennifer Cole, Sarah Edkins, Anthony Webb, Katy Hills, Helen Davies, Yvonne Stephens, Keiran Raine, Ed Dicks, Sara Widaa, Claire Stevens, Adrian Parker, Sarah O’Meara, Christopher Greenman, Ross Laman, Christopher I. Hunter, Syd Barthorpe, P. Andrew Futreal, Leendert H. J. Looijenga, Ken Edwards, Rachel Harrison, Rebecca Shepherd, Helen Solomon, Andrew D. Yates, David T. Jones, Kristian Gray, Sofie West, Matthew Gorton, Robert Petty, Andrew Menzies, Ad J. M. Gillis, Vivienne Kosmidou, Janet Perry, Alexandra Small, Jennifer Varian, Jonathon Hinton, Calli Tofts, Graham R. Bignell, Hans Stoop, Richard Lugg
Publikováno v: Genes Chromosomes & Cancer, 45, 42-46. Wiley-Liss Inc.
Genes Chromosomes Cancer
The protein kinase gene family is the most frequently mutated in human cancer. Previous work has documented activating mutations in the KIT receptor tyrosine kinase in testicular germ-cell tumors (TGCT). To investigate further the potential role of m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b3630a8946fdb34594ed2e0ffa8b95c
https://pure.eur.nl/en/publications/4a08d5f7-ce0c-4fcd-afc7-8c186385ab34
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