1 to 10 of 24 literature results

• A comprehensive catalogue of somatic mutations from a human cancer genome.

  All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implica…

  Authors: Erin D Pleasance, R Keira Cheetham, Philip J Stephens, David J McBride, Sean J Humphray, Chris D Greenman, Ignacio Varela, Meng-Lay Lin, Gonzalo R Ordóñez, Graham R Bignell,…

  Source: Nature. 2010 Jan 14

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• Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

  Clear cell renal cell carcinoma (ccRCC) is the most common form of adult kidney cancer, characterized by the presence of inactivating mutations in the…

  Authors: Gillian L Dalgliesh, Kyle Furge, Chris Greenman, Lina Chen, Graham Bignell, Adam Butler, Helen Davies, Sarah Edkins, Claire Hardy, Calli Latimer,…

  Source: Nature. 2010 Jan 21

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• Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

  Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core …

  Authors: Gijs van Haaften, Gillian L Dalgliesh, Helen Davies, Lina Chen, Graham Bignell, Chris Greenman, Sarah Edkins, Claire Hardy, Sarah O'Meara, Jon Teague,…

  Source: Nature genetics. 2009 May

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• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across t…

  Authors: Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies,…

  Source: Nature genetics. 2009 May

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• Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

  Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been iden…

  Authors: Florence Molinari, François Foulquier, Patrick S Tarpey, Willy Morelle, Sarah Boissel, Jon Teague, Sarah Edkins, P Andrew Futreal, Michael R Stratton, Gillian Turner,…

  Source: American journal of human genetics. 2008 May

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• Patterns of somatic mutation in human cancer genomes.

  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 th…

  Authors: Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens,…

  Source: Nature. 2007 Mar 8

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• Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

  Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutati…

  Authors: Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya, Steven Lisgo, Chris J Talbot, Eryl O Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J McLean,…

  Source: Nature genetics. 2006 Nov

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• SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

  Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, at…

  Authors: Gregor D Gilfillan, Kaja K Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark,…

  Source: American journal of human genetics. 2008 Apr

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• A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.

  We examined the coding sequence of 518 protein kinases, approximately 1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no s…

  Authors: Philip Stephens, Sarah Edkins, Helen Davies, Chris Greenman, Charles Cox, Chris Hunter, Graham Bignell, Jon Teague, Raffaella Smith, Claire Stevens,…

  Source: Nature genetics. 2005 Jun

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• Lung cancer: intragenic ERBB2 kinase mutations in tumours.

  The protein-kinase family is the most frequently mutated gene family found in human cancer and faulty kinase enzymes are being investigated as promisi…

  Authors: Philip Stephens, Chris Hunter, Graham Bignell, Sarah Edkins, Helen Davies, Jon Teague, Claire Stevens, Sarah O'Meara, Raffaella Smith, Adrian Parker,…

  Source: Nature. 2004 Sep 30

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