1 to 10 of 20 literature results

• Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers.

  Highly rearranged and mutated cancer genomes present major challenges in the identification of pathogenetic events driving the neoplastic transformati…

  Authors: Richard S Maser, Bhudipa Choudhury, Peter J Campbell, Bin Feng, Kwok-Kin Wong, Alexei Protopopov, Jennifer O'Neil, Alejandro Gutierrez, Elena Ivanova, Ilana Perna,…

  Source: Nature. 2007 Jun 21

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• X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

  Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disord…

  Authors: Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge,…

  Source: Nature genetics. 2008 Jun

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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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• 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 UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

  Nonsense-mediated mRNA decay (NMD) is of universal biological significance. It has emerged as an important global RNA, DNA and translation regulatory …

  Authors: Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens,…

  Source: Nature genetics. 2007 Sep

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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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• 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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• Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

  We have identified one frameshift mutation, one splice-site mutation, and two missense mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4…

  Authors: F Lucy Raymond, Patrick S Tarpey, Sarah Edkins, Calli Tofts, Sarah O'Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck,…

  Source: American journal of human genetics. 2007 May

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• Mutations of the BRAF gene in human cancer.

  Cancers arise owing to the accumulation of mutations in critical genes that alter normal programmes of cell proliferation, differentiation and death. …

  Authors: Helen Davies, Graham R Bignell, Charles Cox, Philip Stephens, Sarah Edkins, Sheila Clegg, Jon Teague, Hayley Woffendin, Mathew J Garnett, William Bottomley,…

  Source: Nature. 2002 Jun 27

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• 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.

  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 famil…

  Authors: Patrick S Tarpey, F Lucy Raymond, Sarah O'Meara, Sarah Edkins, Jon Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis,…

  Source: American journal of human genetics. 2007 Feb

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