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David N. Cooper - One of the best experts on this subject based on the ideXlab platform.

  • Human Gene Mutation Database (HGMD??): 2003 Update
    Human Mutation, 2003
    Co-Authors: Peter D Stenson, Edward V. Ball, Matthew Mort, Jacqueline A. Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, Andrew D. Phillips, David N. Cooper
    Abstract:

    The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line Mutations in nuclear Genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each Mutation is entered into HGMD only once in order to avoid confusion between recurrent and identical-by-descent lesions. By March 2003, the database contained in excess of 39,415 different lesions detected in 1,516 different nuclear Genes, with new entries currently accumulating at a rate exceeding 5,000 per annum. Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed Genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific Mutation databases. Although HGMD has recently entered into a licensing agreement with Celera Genomics (Rockville, MD), Mutation data will continue to be made freely available via the Internet.

  • human Gene Mutation database a biomedical information and research resource
    Human Mutation, 2000
    Co-Authors: Michael Krawczak, Edward V. Ball, Nick S T Thomas, Peter D Stenson, I Fenton, Shaun S Abeysinghe, David N. Cooper
    Abstract:

    Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological Genetic variants. Disease-associated Gene lesions are currently collected and publicised by the Human Gene Mutation Database (HGMD) in Cardiff, locus-specific Mutation databases, and to some extent also by the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM). To date, HGMD represents the only comprehensive and publicly available database of Gene lesions underlying human inherited disease. By July 1999, HGMD contained over 18,000 different Mutations from some 900 human Genes, the majority being single basepair substitutions. In addition to its potential as an information resource for clinicians and Genetic counsellors, HGMD has allowed molecular Geneticists to address a variety of biological questions through meta-analysis of the collated data. HGMD also promises to assist research workers in optimising Mutation search strategies for a given Gene. A questionnaire sent out to, and answered by, the editors of 20 key journals revealed that human Genetics journals are increasingly reluctant to publish Mutation reports. Electronic data submission and publication facilities are therefore urgently required. The World Wide Web (WWW) provides an excellent medium within which to combine the centralised management of basic Mutation data, including rigorous quality control, with the possibility of publishing additional Mutation-related information. In response to these needs, HGMD has both instituted a collaboration with Springer-Verlag GmbH, Heidelberg, to potentiate free online submission and electronic publication of human Gene Mutation data and developed links with the curators of locus-specific Mutation databases.

  • the human Gene Mutation database
    Nucleic Acids Research, 1998
    Co-Authors: David N. Cooper, Edward V. Ball, Michael Krawczak
    Abstract:

    The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline Mutations in nuclear Genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different Genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for the scientific study of Mutational mechanisms in human Genes, HGMD has acquired a much broader utility to researchers, physicians and Genetic counsellors so that it was made publicly available at http://uwcm.ac.uk/uwcm/mg/hgmd0.html in April 1996. Mutation data in HGMD are accessible on the basis of every Gene being allocated one web page per Mutation type, if data of that type are present. Meaningful integration with phenotypic, structural and mapping information has been accomplished through bi-directional links between HGMD and both the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM), Baltimore, USA. Hypertext links have also been established to Medline abstracts through Entrez , and to a collection of 458 reference cDNA sequences also used for data checking. Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human Genetics, HGMD has established itself as the central core database of inherited human Gene Mutations.

Ingrid Winship - One of the best experts on this subject based on the ideXlab platform.

Michael Krawczak - One of the best experts on this subject based on the ideXlab platform.

  • Human Gene Mutation Database (HGMD??): 2003 Update
    Human Mutation, 2003
    Co-Authors: Peter D Stenson, Edward V. Ball, Matthew Mort, Jacqueline A. Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, Andrew D. Phillips, David N. Cooper
    Abstract:

    The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line Mutations in nuclear Genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each Mutation is entered into HGMD only once in order to avoid confusion between recurrent and identical-by-descent lesions. By March 2003, the database contained in excess of 39,415 different lesions detected in 1,516 different nuclear Genes, with new entries currently accumulating at a rate exceeding 5,000 per annum. Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed Genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific Mutation databases. Although HGMD has recently entered into a licensing agreement with Celera Genomics (Rockville, MD), Mutation data will continue to be made freely available via the Internet.

  • human Gene Mutation database a biomedical information and research resource
    Human Mutation, 2000
    Co-Authors: Michael Krawczak, Edward V. Ball, Nick S T Thomas, Peter D Stenson, I Fenton, Shaun S Abeysinghe, David N. Cooper
    Abstract:

    Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological Genetic variants. Disease-associated Gene lesions are currently collected and publicised by the Human Gene Mutation Database (HGMD) in Cardiff, locus-specific Mutation databases, and to some extent also by the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM). To date, HGMD represents the only comprehensive and publicly available database of Gene lesions underlying human inherited disease. By July 1999, HGMD contained over 18,000 different Mutations from some 900 human Genes, the majority being single basepair substitutions. In addition to its potential as an information resource for clinicians and Genetic counsellors, HGMD has allowed molecular Geneticists to address a variety of biological questions through meta-analysis of the collated data. HGMD also promises to assist research workers in optimising Mutation search strategies for a given Gene. A questionnaire sent out to, and answered by, the editors of 20 key journals revealed that human Genetics journals are increasingly reluctant to publish Mutation reports. Electronic data submission and publication facilities are therefore urgently required. The World Wide Web (WWW) provides an excellent medium within which to combine the centralised management of basic Mutation data, including rigorous quality control, with the possibility of publishing additional Mutation-related information. In response to these needs, HGMD has both instituted a collaboration with Springer-Verlag GmbH, Heidelberg, to potentiate free online submission and electronic publication of human Gene Mutation data and developed links with the curators of locus-specific Mutation databases.

  • the human Gene Mutation database
    Nucleic Acids Research, 1998
    Co-Authors: David N. Cooper, Edward V. Ball, Michael Krawczak
    Abstract:

    The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline Mutations in nuclear Genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different Genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for the scientific study of Mutational mechanisms in human Genes, HGMD has acquired a much broader utility to researchers, physicians and Genetic counsellors so that it was made publicly available at http://uwcm.ac.uk/uwcm/mg/hgmd0.html in April 1996. Mutation data in HGMD are accessible on the basis of every Gene being allocated one web page per Mutation type, if data of that type are present. Meaningful integration with phenotypic, structural and mapping information has been accomplished through bi-directional links between HGMD and both the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM), Baltimore, USA. Hypertext links have also been established to Medline abstracts through Entrez , and to a collection of 458 reference cDNA sequences also used for data checking. Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human Genetics, HGMD has established itself as the central core database of inherited human Gene Mutations.

Yasushi Yatabe - One of the best experts on this subject based on the ideXlab platform.

  • disproportionate representation of kras Gene Mutation in atypical adenomatous hyperplasia but even distribution of egfr Gene Mutation from preinvasive to invasive adenocarcinomas
    The Journal of Pathology, 2007
    Co-Authors: H. Sakamoto, Tetsuya Mitsudomi, Ryuzo Ueda, J. Shimizu, Yoshitsugu Horio, Takashi Takahashi, Yasushi Yatabe
    Abstract:

    In the resected lung, additional small lesions are occasionally found incidentally, and include the full spectrum of preinvasive to invasive lesions under the current putative schema of the sequential development of lung cancer. In this study, we examined EGFR and KRAS Gene Mutations in 119 synchronous pulmonary lesions, including 40 precursor lesions (atypical adenomatous hyperplasia, AAH), 26 carcinomas in situ (non-mucinous bronchioloalveolar carcinoma, BAC), 14 minimally invasive adenocarcinomas, 34 overt invasive adenocarcinomas, and five of other subtypes of cancer. Although the mutually exclusive nature of KRAS and EGFR Gene Mutations was maintained even in preinvasive lesions, the incidences of the lesions along the putative progression schema were quite different. The KRAS Gene was mutated in 33% of AAH, 12% of carcinomas in situ, 8% of minimally invasive adenocarcinomas and 0% of well-differentiated adenocarcinomas, whereas the frequencies of EGFR Mutation did not fluctuate greatly, at 25%, 51%, 36%, 86% and 67%, respectively. These results are consistent with the findings of a published Gene-targeted mouse model; the mice expressing oncogenic KRAS developed AAH but not invasive adenocarcinoma, whereas a spectrum of preinvasive to invasive adenocarcinomas was observed in the mice expressing mutant EGFR. Taking these factors together, it is suggested that AAH could develop by either KRAS or EGFR Gene Mutation, but AAH harbouring a KRAS Gene Mutation might not progress further to an invasive cancer. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  • disproportionate representation of kras Gene Mutation in atypical adenomatous hyperplasia but even distribution of egfr Gene Mutation from preinvasive to invasive adenocarcinomas
    The Journal of Pathology, 2007
    Co-Authors: H. Sakamoto, Tetsuya Mitsudomi, Ryuzo Ueda, J. Shimizu, Yoshitsugu Horio, Takashi Takahashi, Yasushi Yatabe
    Abstract:

    In the resected lung, additional small lesions are occasionally found incidentally, and include the full spectrum of preinvasive to invasive lesions under the current putative schema of the sequential development of lung cancer. In this study, we examined EGFR and KRAS Gene Mutations in 119 synchronous pulmonary lesions, including 40 precursor lesions (atypical adenomatous hyperplasia, AAH), 26 carcinomas in situ (non-mucinous bronchioloalveolar carcinoma, BAC), 14 minimally invasive adenocarcinomas, 34 overt invasive adenocarcinomas, and five of other subtypes of cancer. Although the mutually exclusive nature of KRAS and EGFR Gene Mutations was maintained even in preinvasive lesions, the incidences of the lesions along the putative progression schema were quite different. The KRAS Gene was mutated in 33% of AAH, 12% of carcinomas in situ, 8% of minimally invasive adenocarcinomas and 0% of well-differentiated adenocarcinomas, whereas the frequencies of EGFR Mutation did not fluctuate greatly, at 25%, 51%, 36%, 86% and 67%, respectively. These results are consistent with the findings of a published Gene-targeted mouse model; the mice expressing oncogenic KRAS developed AAH but not invasive adenocarcinoma, whereas a spectrum of preinvasive to invasive adenocarcinomas was observed in the mice expressing mutant EGFR. Taking these factors together, it is suggested that AAH could develop by either KRAS or EGFR Gene Mutation, but AAH harbouring a KRAS Gene Mutation might not progress further to an invasive cancer.

Susan Parry - One of the best experts on this subject based on the ideXlab platform.