Genomes and Genes
dna mutational analysis
Summary: Biochemical identification of mutational changes in a nucleotide sequence.
Publications319 found, 100 shown here
- Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinibThomas J Lynch
Cancer Center, Massachusetts General Hospital and Harvard Medical School, Boston 02129, USA
N Engl J Med 350:2129-39. 2004..However, about 10 percent of patients have a rapid and often dramatic clinical response. The molecular mechanisms underlying sensitivity to gefitinib are unknown...
- Mutations of the BRAF gene in human cancerHelen Davies
Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
Nature 417:949-54. 2002..As BRAF is a serine/threonine kinase that is commonly activated by somatic point mutation in human cancer, it may provide new therapeutic opportunities in malignant melanoma...
- Patterns of somatic mutation in human cancer genomesChristopher Greenman
Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Nature 446:153-8. 2007..Systematic sequencing of cancer genomes therefore reveals the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated...
- A comprehensive catalogue of somatic mutations from a human cancer genomeErin D Pleasance
Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Nature 463:191-6. 2010..The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic...
- Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domainWilliam Pao
Program in Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, New York, USA
PLoS Med 2:e73. 2005..Despite initial responses, patients eventually progress by unknown mechanisms of "acquired" resistance...
- Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemiaXose S Puente
Departamento de Bioquimica y Biologia Molecular, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
Nature 475:101-5. 2011..It highlights the usefulness of this approach for the identification of clinically relevant mutations in cancer...
- Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 databaseAudrey Petitjean
Group of Molecular Carcinogenesis and Biomarkers, International Agency for Research on Cancer IARC, World Health Organization, Lyon, France
Hum Mutat 28:622-9. 2007..These results provide new insights into the factors that shape mutation patterns and influence mutation phenotype, which may have clinical interest...
- A small-cell lung cancer genome with complex signatures of tobacco exposureErin D Pleasance
Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Nature 463:184-90. 2010..These findings illustrate the potential for next-generation sequencing to provide unprecedented insights into mutational processes, cellular repair pathways and gene networks associated with cancer...
- DNMT3A mutations in acute myeloid leukemiaTimothy J Ley
Department of Genetics, Genome Center, Washington University, St Louis, MO 63110, USA
N Engl J Med 363:2424-33. 2010..The genetic alterations responsible for an adverse outcome in most patients with acute myeloid leukemia (AML) are unknown...
- K-ras mutations and benefit from cetuximab in advanced colorectal cancerChristos S Karapetis
Flinders Medical Centre and Flinders University, Adelaide, Australia
N Engl J Med 359:1757-65. 2008..The mutation status of the K-ras gene in the tumor may affect the response to cetuximab and have treatment-independent prognostic value...
- Intra- and inter-tumor heterogeneity of BRAF(V600E))mutations in primary and metastatic melanomaMolly Yancovitz
Department of Dermatology, New York University Langone Medical Center, New York, New York, United States of America
PLoS ONE 7:e29336. 2012....
- The mutation spectrum revealed by paired genome sequences from a lung cancer patientWilliam Lee
Department of Bioinformatics and Computational Biology, Genentech Inc, South San Francisco, California 94080, USA
Nature 465:473-7. 2010..We present a comprehensive view of somatic alterations in a single lung tumour, and provide the first evidence, to our knowledge, of distinct selective pressures present within the tumour environment...
- Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center originRyan D Morin
Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
Nat Genet 42:181-5. 2010..7% of GCB DLBCLs and 7.2% of FLs and are absent from ABC DLBCLs. Our data are consistent with the notion that EZH2 proteins with mutant Tyr641 have reduced enzymatic activity in vitro...
- Characterization of mutation spectra with ultra-deep pyrosequencing: application to HIV-1 drug resistanceChunlin Wang
Division of Infectious Diseases, Department of Medicine, Stanford University, Stanford, CA 94305, USA
Genome Res 17:1195-201. 2007..With appropriate analysis, ultra-deep pyrosequencing is a promising method for characterizing genetic diversity and detecting minor yet clinically relevant variants in biological samples with complex genetic populations...
- Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutralS V Tavtigian
International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon, France
J Med Genet 43:295-305. 2006..However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions...
- Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximabWendy De Roock
Center for Human Genetics, University of Leuven, Leuven, Belgium
JAMA 304:1812-20. 2010..Patients with metastatic colorectal cancer who have KRAS codon 12- or KRAS codon 13-mutated tumors are presently excluded from treatment with the anti-epidermal growth factor receptor monoclonal antibody cetuximab...
- Detection of mutations in EGFR in circulating lung-cancer cellsShyamala Maheswaran
Massachusetts General Hospital Cancer Center, Boston 02129, USA
N Engl J Med 359:366-77. 2008..Molecular characterization of circulating tumor cells may provide a strategy for noninvasive serial monitoring of tumor genotypes during treatment...
- Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)C R Newton
ICI Diagnostics, Northwich, Cheshire, UK
Nucleic Acids Res 17:2503-16. 1989..Our findings are in complete agreement with allele assignments derived by direct sequencing of PCR products...
- Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanomaGeorgina V Long
Melanoma Institute Australia, 40 Rocklands Rd, North Sydney, New South Wales, 2060, Australia
J Clin Oncol 29:1239-46. 2011..To assess the frequency and type of oncogenic BRAF mutations in metastatic melanoma and correlate BRAF status with clinicopathologic features and outcome...
- Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraffin-embedded tissue specimens of malignant melanomaSteven Anderson
Medical and Scientific Affairs, Roche Molecular Systems, Inc, 4300 Hacienda Dr, Pleasanton, CA 94588, USA
Arch Pathol Lab Med 136:1385-91. 2012....
- The IARC TP53 database: new online mutation analysis and recommendations to usersMagali Olivier
Molecular Carcinogenesis Group, International Agency for Research on Cancer, World Health Organization, Lyon, France
Hum Mutat 19:607-14. 2002..In addition, a new on-line application to retrieve somatic mutation data and analyze mutation patterns is now available. We also discuss limitations on the use of the database and provide recommendations to users...
- Genome remodelling in a basal-like breast cancer metastasis and xenograftLi Ding
The Genome Center at Washington University, St Louis, Missouri 63108, USA
Nature 464:999-1005. 2010..The differential mutation frequencies and structural variation patterns in metastasis and xenograft compared with the primary tumour indicate that secondary tumours may arise from a minority of cells within the primary tumour...
- Frequent somatic mutations of GNAQ in uveal melanoma and blue naeviCatherine D Van Raamsdonk
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
Nature 457:599-602. 2009..Our results demonstrate an alternative route to MAP kinase activation in melanocytic neoplasia, providing new opportunities for therapeutic intervention...
- Recurring mutations found by sequencing an acute myeloid leukemia genomeElaine R Mardis
Department of Genetics, Washington University, St Louis, MO 63110, USA
N Engl J Med 361:1058-66. 2009..The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known...
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersChristelle M Durand
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
Nat Genet 39:25-7. 2007..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
- Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterationsMargaret C Thompson
St Jude Children s Research Hospital, Memphis, TN 38105, USA
J Clin Oncol 24:1924-31. 2006..We hypothesized that gene expression profiling might be a more rapid and cost-effective method of identifying tumors that contain specific genetic abnormalities...
- JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing dataAndrew Roth
Department of Molecular Oncology, BC Cancer Agency, BC, Canada
Bioinformatics 28:907-13. 2012....
- Benchmarking of mutation diagnostics in clinical lung cancer specimensSilvia Querings
Max Planck Institute for Neurological Research with Klaus Joachim Zülch Laboratories of the Max Planck Society and the Medical Faculty of the University of Cologne, Cologne, Germany
PLoS ONE 6:e19601. 2011..More broadly, our results emphasize the need for thorough evaluation of all mutation detection approaches against massively parallel sequencing as a prerequisite for any clinical implementation...
- KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in KRAS codon 12 and 13 wild-type metastatic colorectal cancerF Loupakis
Unit of Medical Oncology 2, Azienda Ospedaliero Universitaria Pisana, Istituto Toscano Tumori and Department of Oncology, Transplantes and New Technologies in Medicine, University of Pisa, Via Roma 67 56126 Pisa, Italy
Br J Cancer 101:715-21. 2009..KRAS codons 12 and 13 mutations predict resistance to anti-EGFR monoclonal antibodies (moAbs) in metastatic colorectal cancer. Also, BRAF V600E mutation has been associated with resistance. Additional KRAS mutations are described in CRC...
- A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degenerationGregory S Hageman
Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, University of Iowa, Iowa City, IA 52240, USA
Proc Natl Acad Sci U S A 102:7227-32. 2005..We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population...
- mtDNA mutations increase tumorigenicity in prostate cancerJohn A Petros
Department of Urology, Emory University, 1365A Clifton Road, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 102:719-24. 2005..The mutant tumors also generated significantly more ROS. Therefore, mtDNA mutations do play an important role in the etiology of prostate cancer...
- Profiling critical cancer gene mutations in clinical tumor samplesLaura E MacConaill
Center for Cancer Genome Discovery, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, USA
PLoS ONE 4:e7887. 2009..We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting...
- KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: results from the MRC FOCUS trialSusan D Richman
Leeds Institute of Molecular Medicine, St James s Institute of Oncology, Cancer Research UK Genomic Services, University of Leeds, Leeds, UK
J Clin Oncol 27:5931-7. 2009..We wanted to determine whether KRAS and/or BRAF mutation is also a predictive biomarker for other aCRC therapies...
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophyYukiko K Hayashi
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
J Clin Invest 119:2623-33. 2009....
- High-resolution DNA melting analysis for simple and efficient molecular diagnosticsGudrun H Reed
Department of Pathology, University of Utah Medical Center, 5B418, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Pharmacogenomics 8:597-608. 2007..Owing to its simplicity and speed, the method is a good fit for personalized medicine as a rapid, inexpensive method to predict therapeutic response...
- Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell linesAntoinette Hollestelle
Department of Medical Oncology, Josephine Nefkens Institute Be414, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Mol Cancer Res 5:195-201. 2007..001). These results suggest that there is a fine distinction between the signaling activators and downstream effectors of the oncogenic PI3K and RAS pathways in breast epithelium and those in other tissues...
- Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutationsKatherine A Janeway
Department of Pediatric Hematology Oncology, Dana Farber Cancer Institute and Children s Hospital, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 108:314-8. 2011..Testing for germline mutations in SDH is recommended in patients with WT GIST. These findings highlight a potential central role of SDH dysregulation in WT GIST oncogenesis...
- Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrenceTetsuya Mitsudomi
Department of Thoracic Surgery, Aichi Cancer Center Hospital, 1 1 Kanokoden, Chikusa ku, Nagoya 464 8681, Japan
J Clin Oncol 23:2513-20. 2005..To evaluate the relationship between mutations of the epidermal growth factor receptor (EGFR) gene and the effectiveness of gefitinib treatment in patients with recurrent lung cancer after pulmonary resection...
- Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencingA Eliot Shearer
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 107:21104-9. 2010..Massively parallel sequencing technologies provide sensitivity, specificity, and reproducibility at levels sufficient to perform genetic diagnosis of hearing loss...
- Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1DH Bolz
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Nat Genet 27:108-12. 2001..In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse...
- A gain-of-function mutation of JAK2 in myeloproliferative disordersRobert Kralovics
Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
N Engl J Med 352:1779-90. 2005..The loss of heterozygosity (LOH) on the short arm of chromosome 9 (9pLOH) in myeloproliferative disorders suggests that 9p harbors a mutation that contributes to the cause of clonal expansion of hematopoietic cells in these diseases...
- Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species productionAleksandra Trifunovic
Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden
Proc Natl Acad Sci U S A 102:17993-8. 2005..We propose instead that respiratory chain dysfunction per se is the primary inducer of premature aging in mtDNA mutator mice...
- Colorectal cancer: mutations in a signalling pathwayD Williams Parsons
The Sidney Kimmel Comprehensive Cancer Center and The Howard Hughes Medical Institute, The Johns Hopkins University Medical Institutions, Baltimore, Maryland 21231, USA
Nature 436:792. 2005..The discovery of this mutational activation of a key cell-signalling pathway may provide new targets for therapeutic intervention...
- Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032Jill C Rubinstein
Department of Dermatology, Yale University School of Medicine, New Haven, CT 06520, USA
J Transl Med 8:67. 2010..Here we present evidence that a patient bearing the BRAF V600K mutation responded remarkably to PLX4032, suggesting that clinical trials should include all patients with activating BRAF V600E/K mutations...
- Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1Luca Cartegni
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
Nat Genet 30:377-84. 2002..The abrogation of the SF2/ASF-dependent ESE is the basis for inefficient inclusion of exon 7 in SMN2, resulting in the spinal muscular atrophy phenotype...
- Mutations in NOTCH1 cause aortic valve diseaseVidu Garg
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9148, USA
Nature 437:270-4. 2005..These results suggest that NOTCH1 mutations cause an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease...
- Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing lossOscar Diaz-Horta
John P Hussman Institute for Human Genomics and the Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
PLoS ONE 7:e50628. 2012..The excess of heterozygous variants should be considered during search for causative mutations in ARNSHL genes, especially in small-sized families...
- Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersP A Steck
Department of Neuro Oncology, University of Texas, M D Anderson Cancer Center, Houston 77030, USA
Nat Genet 15:356-62. 1997..Our results identify a strong candidate tumour suppressor gene at chromosome 10q23.3, whose loss of function appears to be associated with the oncogenesis of multiple human cancers...
- Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencingEmeline Colomba
EA4340, University of Versailles, Boulogne, France
J Mol Diagn 15:94-100. 2013..Pyrosequencing proved to be the most efficient method to detect BRAF mutations in melanomas and could be performed on VE1-negative or uninterpretable cases...
- The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorderG S Stewart
The University of Birmingham CRC Institute for Cancer Studies, The Medical School Edgbaston, United Kingdom
Cell 99:577-87. 1999..These data demonstrate that ATM and the hMre11/hRad50/Nbs1 protein complex act in the same DNA damage response pathway and link hMre11 to the complex pathology of A-T...
- Cancer: drivers and passengersDaniel A Haber
Nature 446:145-6. 2007
- PTEN expression and KRAS mutations on primary tumors and metastases in the prediction of benefit from cetuximab plus irinotecan for patients with metastatic colorectal cancerFotios Loupakis
Department of Oncology, Azienda USL 6, Istituto Toscano Tumori, Livorno, Italy
J Clin Oncol 27:2622-9. 2009..This retrospective study investigated the role of PTEN loss, AKT phosphorylation, and KRAS mutations on the activity of cetuximab plus irinotecan in patients with metastatic colorectal cancer (mCRC)...
- Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trialsChristine M Lovly
Division of Hematology Oncology, Department of Medicine, Vanderbilt Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, United States of America
PLoS ONE 7:e35309. 2012....
- TLR4 mutations are associated with endotoxin hyporesponsiveness in humansN C Arbour
1 Department of Medicine, Department of Veterans Affairs Medical Center, The University of Iowa, Iowa City, Iowa, USA
Nat Genet 25:187-91. 2000....
- Analytical performance of a real-time PCR-based assay for V600 mutations in the BRAF gene, used as the companion diagnostic test for the novel BRAF inhibitor vemurafenib in metastatic melanomaHarkanwal Halait
Roche Molecular Diagnostics, Pleasanton, CA 94588, USA
Diagn Mol Pathol 21:1-8. 2012..A simple 1:2 dilution resulted in a valid test result of 76% in such cases. The cobas test is a reproducible assay that detects some non-V600E mutations and is more accurate than direct sequencing in detecting BRAFV600E...
- Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3AAnna M Jankowska
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA
Blood 118:3932-41. 2011..Various mutant genotype combinations were observed, indicating molecular heterogeneity in CMML. Our results suggest that molecular defects affecting distinct pathways can lead to similar clinical phenotypes...
- PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancersFilip Janku
Department of Investigational Cancer Therapeutics Phase I Clinical Trials Program, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America
PLoS ONE 6:e22769. 2011..Oncogenic mutations of PIK3CA, RAS (KRAS, NRAS), and BRAF have been identified in various malignancies, and activate the PI3K/AKT/mTOR and RAS/RAF/MEK pathways, respectively. Both pathways are critical drivers of tumorigenesis...
- Epidermal growth factor receptor gene mutations and increased copy numbers predict gefitinib sensitivity in patients with recurrent non-small-cell lung cancerToshimi Takano
Division of Internal Medicine, National Cancer Center Hospital, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
J Clin Oncol 23:6829-37. 2005..To evaluate epidermal growth factor receptor (EGFR) mutations and copy number as predictors of clinical outcome in patients with non-small-cell lung cancer (NSCLC) receiving gefitinib...
- Identification and analysis of deleterious human SNPsPeng Yue
Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, Rockville MD 20850, USA
J Mol Biol 356:1263-74. 2006..After carefully controlling for errors, we find that approximately one quarter of known non-synonymous SNPs are deleterious by these criteria, providing a set of possible contributors to human complex disease traits...
- Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicineDora Dias-Santagata
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
EMBO Mol Med 2:146-58. 2010..This work therefore establishes a platform for real-time targeted genotyping that can be widely adopted. We expect that efforts like this one will play an increasingly important role in cancer management...
- Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST)Marc Daniels
Institute of Pathology, University Erlangen, Germany
Cancer Lett 312:43-54. 2011..We suggest that BRAF mutations are of pathogenetic significance in wild type GISTs. The PI3K pathway should be assessed in future studies...
- American Society of Clinical Oncology provisional clinical opinion: epidermal growth factor receptor (EGFR) Mutation testing for patients with advanced non-small-cell lung cancer considering first-line EGFR tyrosine kinase inhibitor therapyVicki Leigh Keedy
Vanderbilt University Medical Center, Nashville, TN, USA
J Clin Oncol 29:2121-7. 2011....
- A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodesDebora Fumagalli
Department of Pathology, National Surgical Adjuvant Breast and Bowel Project, 1307 Federal St, Pittsburgh, PA 15212, USA
BMC Cancer 10:101. 2010..Our goal was to develop a high throughput, cost-effective and simple methodology for the detection of clinically relevant hot spot mutations in colon cancer...
- Mutational evolution in a lobular breast tumour profiled at single nucleotide resolutionSohrab P Shah
Molecular Oncology, BC Cancer Agency, 675 West 10th Avenue, Vancouver V5Z 1L3, Canada
Nature 461:809-13. 2009..Taken together, our data show that single nucleotide mutational heterogeneity can be a property of low or intermediate grade primary breast cancers and that significant evolution can occur with disease progression...
- Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC geneY Miyoshi
Department of Biochemistry, Cancer Institute, Tokyo, Japan
Hum Mol Genet 1:229-33. 1992..These results strongly suggest that somatic mutations of the APC gene are associated with development of a great majority of colorectal tumors...
- Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneD C Whitcomb
Dept of Medicine, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
Nat Genet 14:141-5. 1996..Cleavage at this site is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis...
- Mutations in complement C3 predispose to development of atypical hemolytic uremic syndromeVeronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France
Blood 112:4948-52. 2008..We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS...
- The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancerMagali Olivier
IARC, Lyon, France
Clin Cancer Res 12:1157-67. 2006..These results, obtained on the largest series analyzed thus far, show that TP53 mutations identified by gene sequencing have an independent prognostic value in breast cancer and could have potential uses in clinical practice...
- PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomasJong Woo Lee
Department of Pathology, College of Medicine, Catholic University of Korea, 505 Banpo Dong, Socho gu, Seoul 137 701, Korea
Oncogene 24:1477-80. 2005..The high incidence and wide distribution of PIK3CA gene mutation in the common human cancers suggest that alterations of lipid kinase pathway by PIK3CA mutations contribute to the development of human cancers...
- p53 mutations in human cancersM Hollstein
Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
Science 253:49-53. 1991..These differences may reflect the etiological contributions of both exogenous and endogenous factors to human carcinogenesis...
- Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansJoan C Marini
Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
Hum Mutat 28:209-21. 2007..Our data on genotype-phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events...
- Defective myosin VIIA gene responsible for Usher syndrome type 1BD Weil
Unité de Génétique Moléculaire Humaine URA CNRS 1968, Institut Pasteur, Paris, France
Nature 374:60-1. 1995..Thus USH1B appears as a primary cytoskeletal protein defect. These results implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome...
- Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implicationsAthanasios C Tsiatis
The Johns Hopkins Medical Institutions, Department of Pathology, 600 N Wolfe Street, Park SB202, Baltimore, MD 21287, USA
J Mol Diagn 12:425-32. 2010..1% false positives and 6.1% false negatives. In our hands, the limit of detection for Sanger sequencing, pyrosequencing, and melting curve analysis was approximately 15 to 20%, 5%, and 10% mutant alleles, respectively...
- Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-upMarkku Miettinen
Departments of Soft Tissue Pathology, Armed Forces Institute of Pathology, Washington, DC 20306 6000, USA
Am J Surg Pathol 29:52-68. 2005..The above results may be helpful for setting the criteria for adjuvant treatment such as Gleevec...
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28C Alexander
Department of Molecular Genetics, Insititute of Ophthalmology, University College London, London, UK
Nat Genet 26:211-5. 2000..The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity...
- Clinical course of patients with non-small cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinibGregory J Riely
Thoracic Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 12:839-44. 2006..We undertook this study to explore the relationship between EGFR mutation type and clinical variables, including treatment with gefitinib and erlotinib...
- KIT as a therapeutic target in metastatic melanomaRichard D Carvajal
Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
JAMA 305:2327-34. 2011..We explored the effects of KIT inhibition using imatinib mesylate in this molecular subset of disease...
- Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathyH Niimura
Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
N Engl J Med 338:1248-57. 1998..The spectrum of disease-causing mutations and the associated clinical features of these gene defects are unknown...
- Identification of an acquired JAK2 mutation in polycythemia veraRunxiang Zhao
Hematology Oncology Division, Department of Medicine, Vanderbilt Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee 37232, USA
J Biol Chem 280:22788-92. 2005..This gain-of-function mutation of JAK may explain the hypersensitivity of PV progenitor cells to growth factors and cytokines. Our study thus defines a molecular defect of PV...
- A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical settingVicki Whitehall
Queensland Institute of Medical Research, Bancroft Building, 300 Herston Road, Herston Queensland 4029, Australia
J Mol Diagn 11:543-52. 2009..These results demonstrate that a variety of detection methodologies are suitable and provide comparable results for KRAS mutation analysis of clinical samples...
- Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathyKalliopi Pilichou
Department of Biology, University of Padua Medical School, Padua, Italy
Circulation 113:1171-9. 2006..Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC...
- VSX1: a gene for posterior polymorphous dystrophy and keratoconusElise Heon
Cellular and Molecular Division, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
Hum Mol Genet 11:1029-36. 2002..These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina...
- Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinibSae Won Han
Department of Internal Medicine, Seoul National University Hospital, Seoul, 110 744 Korea
J Clin Oncol 23:2493-501. 2005..This study was undertaken to investigate the effects of epidermal growth factor receptor (EGFR) mutation and its downstream signaling on response and survival in non-small-cell lung cancer (NSCLC) patients treated with gefitinib...
- High-throughput oncogene mutation profiling in human cancerRoman K Thomas
Department of Medical Oncology, Dana Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
Nat Genet 39:347-51. 2007..These results offer a new dimension in tumor genetics, where mutations involving multiple cancer genes may be interrogated simultaneously and in 'real time' to guide cancer classification and rational therapeutic intervention...
- Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencingEmma Borràs
Hospital de Terrassa, Ctra, Torrebonica, Terrassa, Spain
BMC Cancer 11:406. 2011..The development of new generation methods for systematic mutation screening of these genes will allow more appropriate therapeutic choices...
- Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysisCarrie N Arnold
Department of Genetics, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
Genetics 187:633-41. 2011..Our study demonstrates the speed and utility of whole genome sequencing coupled with low resolution meiotic mapping as a means of identifying causative mutations induced by ENU...
- Cross-validation study for epidermal growth factor receptor and KRAS mutation detection in 74 blinded non-small cell lung carcinoma samples: a total of 5550 exons sequenced by 15 molecular French laboratories (evaluation of the EGFR mutation status for thMichèle Beau-Faller
Laboratoire de Biologie Moleculaire, Hopital de Hautepierre, Strasbourg, France
J Thorac Oncol 6:1006-15. 2011....
- PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinomaLao H Saal
Integrated Program in Cellular, Molecular, and Biophysical Studies, Institute for Cancer Genetics, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
Cancer Res 65:2554-9. 2005..Thus, mutation of PIK3CA is frequent, occurs early in carcinoma development, and has prognostic and therapeutic implications...
- Detection of EGFR mutation status in lung adenocarcinoma specimens with different proportions of tumor cells using two methods of differential sensitivityHye Suk Han
Department of Internal Medicine, College of Medicine, Chungbuk National University, Cheongju, South Korea
J Thorac Oncol 7:355-64. 2012..To evaluate epidermal growth factor receptor (EGFR) mutation status in lung adenocarcinoma specimens with different proportions of tumor cells using two methods with different sensitivities...
- High-resolution DNA melting analysis: advancements and limitationsCarl T Wittwer
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Hum Mutat 30:857-9. 2009....
- Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)Zhou Zhou
Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China
Mol Vis 16:713-9. 2010..To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract...
- Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian familiesAlessandro Santana
Cataract Service, Department of Ophthalmology, Faculty of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil
Mol Vis 15:793-800. 2009..The purpose of this study was to investigate mutations in alphaA-crystallin (CRYAA), gammaC-crystallin (CRYGC), and gammaD-crystallin (CRYGD) in Brazilian families with nuclear and lamellar autosomal dominant congenital cataract...
- Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutationsJuergen Scharner
Randall Division of Cell and Molecular Biophysics, King s College London, United Kingdom
Hum Mutat 32:152-67. 2011..Together, this study significantly augments the number of EDMD patients on the database and describes 15 novel mutations that underlie EDMD, which will contribute to establishing genotype-phenotype correlations...
- Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese familyKe Yao
Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China
Mol Vis 17:144-52. 2011..To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts...
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
Am J Hum Genet 68:26-37. 2001..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
- Thrombomodulin mutations in atypical hemolytic-uremic syndromeMieke Delvaeye
VIB K U Leuven Vesalius Research Center, Leuven, Belgium
N Engl J Med 361:345-57. 2009..Genetic factors in the remaining cases are unknown. We studied the role of thrombomodulin, an endothelial glycoprotein with anticoagulant, antiinflammatory, and cytoprotective properties, in atypical hemolytic-uremic syndrome...
- Biomarkers of response to epidermal growth factor receptor inhibitors in Non-Small-Cell Lung Cancer Working Group: standardization for use in the clinical trial settingDavid A Eberhard
Department of Pathology, Genentech Inc, San Francisco, CA, USA
J Clin Oncol 26:983-94. 2008..Recommendations for the standardization of molecular assays are also discussed...
- Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataractLars Hansen
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
Invest Ophthalmol Vis Sci 50:3291-303. 2009..Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families...
- Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureEdwin M Stone
Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA
Am J Ophthalmol 144:791-811. 2007....
- Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing librariesMichal Mokry
Hubrecht Institute and University Medical Center Utrecht, KNAW, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Nucleic Acids Res 38:e116. 2010..Raw sequencing data, alignment files and called SNPs have been submitted into GEO database http://www.ncbi.nlm.nih.gov/geo/ with accession number GSE18542...
- Circulating mutant DNA to assess tumor dynamicsFrank Diehl
The Ludwig Center for Cancer Genetics and Therapeutics, Howard Hughes Medical Institute and Sidney Kimmel Cancer Center at the Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nat Med 14:985-90. 2008..We suggest that this personalized genetic approach could be generally applied to individuals with other types of cancer...
- Comprehensive NF1 Mutational Analysis in Leukemia CellsLudwine Messiaen; Fiscal Year: 2006..abstract_text> ..
- RBC Ion Transporters as Hemoglobinopathy Risk ModifiersSeth Alper; Fiscal Year: 2009..The proposed experiments will increase understanding of sickle cell disease and thalassemia by providing mouse models for genetic tests of new drug therapies under development for near-term clinical testing. ..
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael Whyte; Fiscal Year: 2002....
- Genetic Epidemiology of Parkinson's DiseaseKaren Marder; Fiscal Year: 2008..unreadable] [unreadable]..
- Safety of repetitive TMS in chronic subcortical strokeSteven Cramer; Fiscal Year: 2006..The long-term goal of these studies is to develop a safe and efficacious method for facilitating motor cortex function in order to improve motor status of patients with stroke-related weakness. ..
- Safety of Autologous Marrow Stromal Cells After StrokeSteven Cramer; Fiscal Year: 2005..This study is a Phase I safety trial, and thus represents the first step in evaluating autologous MSC transfusion in this regard. ..
- STEM CELL MOBILIZATION TO ENHANCE TISSUE REGENERATIONDaniel Link; Fiscal Year: 2006..3. Examine the efficacy of stem cell mobilization to mediate tissue regeneration in a murine model of acute myocardial infarction. ..
- Molecular Pathogenesis of Severe Congential NeutropeniaDaniel Link; Fiscal Year: 2008..A novel xenotransplantation model of SCN will be developed to study hematopoiesis in vivo. ..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- EARLY DETECTION OF MENINGEAL CARCINOMATOSIS USING TOPOG*Sydney Finkelstein; Fiscal Year: 2006..unreadable] [unreadable]..
- Analysis of Toxin A synthesis in P. aeruginosaAbdul Hamood; Fiscal Year: 2006....
- Hereditary spastic paraplegia linked to chromosomes 8qPeter Hedera; Fiscal Year: 2006..I will characterize the phenotype of transgenic animals. The study of a transgenic animal model will further enhance current state of knowledge about the pathophysiology of HSP and axonal degeneration. ..
- FMRI in Pre-Symptomatic PS1-related Alzheimer's DiseaseJohn Ringman; Fiscal Year: 2005..UCI, with its strong dementia research program, growing MRI capabilities and opportunity to collaborate at the nearby UCLA Brain Imaging Center, is an excellent environment for this endeavor. ..
- Improving Waisman Center Animal Care FacilityAlbee Messing; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- GENETIC RESOURCES FOR NON-HUMAN PRIMATESLeslie Lyons; Fiscal Year: 2007..The rationale for this approach is that many primate researchers are unaware of the current primate resources and are unfamiliar with the use and advantages of genetics because it is outside their areas of expertise. ..
- Chemopreventive Actions of Equol EnantiomersKenneth Setchell; Fiscal Year: 2007..These studies are relevant to humans given the ammended health claim for soy and cancer risk-reduction currently being reviewed by the FDA. ..
- Pitx2 Function in Developing Mouse Brain NeuronsDonna M Martin; Fiscal Year: 2010..These results will help guide future experiments aimed at directing neural stem cell differentiation toward specific neuronal cell subtypes. ..
- AMPHIBIAN MODEL FOR VERTEBRATE DEVELOPMENTAL GENETICSRobert Grainger; Fiscal Year: 2008..tropicalis. This project should complement the growing genomic resources for X. tropicalis which include a genome project to commence in the summer of 2002. ..
- Rapid Screen for Genotoxicants, Chemoprotectors, and RadioprotectorsStephen Dertinger; Fiscal Year: 2008..In addition, this assay can be used to investigate agents designed to ameliorate the effects of radiation exposure, e.g. biological response modifiers. [unreadable] [unreadable] [unreadable] [unreadable]..
- High Accuracy Single Molecule DNA Sequencing by SynthesisJohn Thompson; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- TARGETS OF METASTATIC PANCREATIC CANCERChristine Iacobuzio Donahue; Fiscal Year: 2008..abstract_text> ..
- Disease pathogenesis of Noonan syndrome and related disordersBruce Gelb; Fiscal Year: 2008..Next, a candidate gene approach will be used to identify additional NS gene(s). This will be coupled with the use of human multiplex NS kindreds without PTPN11 mutations. ..
- Pathophysiologies Involving Hemostasis-related GenesFrancis Castellino; Fiscal Year: 2008..abstract_text> ..
- High Throughput Radiation BiodosimetryStephen Dertinger; Fiscal Year: 2007..We propose to develop such a radiation biodosimetry assay based on the extremely high analysis rates that are possible with flow cytometry instrumentation. [unreadable] [unreadable] [unreadable]..
- Long-term efficacy of pediatric HAARTDALTON CHEKOKO WAMALWA; Fiscal Year: 2010..This study will provide important information on effectiveness of HAART regimens being scaled up in resource-poor countries and help programs better plan for changes of drug regimens following treatment failure. ..
- Genetic Control of Early Retinal DevelopmentRobert M Grainger; Fiscal Year: 2010..Third, we will examine the regulation of and interactions among a critical group of transcription factors essential for retina formation in order to ascertain their roles in the determination mechanism. ..
- Role of Pitx2 in the Mammalian Central Nervous SystemDonna Martin; Fiscal Year: 2005..5-14.5) mouse diencephalon, 2) Develop and analyze mice with Pitx2 loss of function, and 3) Develop and analyze transgenic mice with CNS-specific Pitx2 gain of function. ..
- Feline Model of an Inherited Craniofacial AbnormalityLeslie Lyons; Fiscal Year: 2004..Once identified, mutation analyses of these genes in the cat or other species will lead to understanding the genetics of facial development in humans. ..
- Measuring Cytogenetic Damage in Human BloodStephen Dertinger; Fiscal Year: 2003..abstract_text> ..
- Anticancer drug resistance studies using DictyosteliumStephen Alexander; Fiscal Year: 2003..These studies will identify new mechanisms for drug resistance and new targets for chemotherapeutic intervention which can subsequently be validated in human cells. ..
- Diastolic Function in Hypertrophic CardiomyopathyCarolyn Ho; Fiscal Year: 2003..Such genotype-phenotype correlations have the potential to improve our ability to risk stratify and monitor patients, and may ultimately inspire noel approaches to management. ..
- FUNCTION OF GFAP IN ASTROCYTE DEVELOPMENT AND DISEASEAlbee Messing; Fiscal Year: 2002..In specific aim 3, he will test the hypothesis that formation of Rosenthal fibers in astrocytes is associated with fundamental physiological changes in astrocytes and in neuron-glial interactions. ..
- Mutation spectra in DNA repair-deficient backgroundsDEE DENVER; Fiscal Year: 2004..abstract_text> ..
- A pharmacogenetic and pharmacodynamic study of erlotinibCHARLES RUDIN; Fiscal Year: 2004..Defining the basis of this toxicity could also promote the development of EGFR-directed agents that may avoid such toxicity or that may be effective in a broader spectrum of cancer patients. ..
- FAMILIAL PATENT DUCTUS ARTERIOSUSBruce Gelb; Fiscal Year: 2004..Aside from illuminating one pathway toward the clinical endpoint of PDA, it will provide the starting place for identifying genes critical to ductal development that are activated by Char syndrome-related genes. ..
- RECOVERY FROM STROKE: A CLINICAL & FUNCTIONAL MRI STUDYSteven Cramer; Fiscal Year: 2003..3) MGH-NMR Center (Charlestown, MA), located two miles from (1) and (2), is a pioneering fMRI center. ..
- TNF-Induced Apoptosis of Lymphocytes in Aged HumansSudhir Gupta; Fiscal Year: 2004..These studied should mechanism (s) for increased TNF-a-induced apoptosis during aging. ..
- GENETIC CONTROL OF LENS FORMATIONRobert Grainger; Fiscal Year: 2001..The final goal is to test the function of transcriptional regulatory genes in controlling lens competence, bias and specification in Xenopus embryos. ..
- Organization of the Trichromatic Cone MosaicJoseph Carroll; Fiscal Year: 2005..This will be done in subjects for whom we also have a representation of their cone mosaic, to be able to selectively stimulate cones from a particular class. ..
- In vivo mutation assay based on pig-a locusStephen Dertinger; Fiscal Year: 2004....
- 2001 International C. elegans MeetingPaul Sternberg; Fiscal Year: 2001..Previous C. elegans meetings have led to the exchange of knowledge, ideas, methods, mutants, and clones, and have been vital in fostering the sense of excitement, collegiality and cooperativity that characterize this field. ..
- INDUCTION OF THE EMBRYONIC LENSRobert Grainger; Fiscal Year: 2005....
- Is a therapy for Alexander disease already FDA-approved?Albee Messing; Fiscal Year: 2006..By restricting the focus to the FDA-approved list, successful identification of GFAP-suppressing drugs could offer immediate therapeutic benefit to Alexander disease patients. ..
- Soy Isoflavone Metabolite Equol--Formation and FateKenneth Setchell; Fiscal Year: 2008..abstract_text> ..
- Phase I/II Study of MS-275 and 5-Azacytidine in Patients with Advanced Non-SmallCHARLES RUDIN; Fiscal Year: 2008..If successful, this approach could alter the poor prognosis of individuals with this disease. [unreadable] [unreadable] [unreadable]..
- Versatile Mutation Assay PlatformStephen Dertinger; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Automation of the vitro Micronucleus AssayStephen Dertinger; Fiscal Year: 2004..abstract_text> ..
- Genetics and Pediatric Nonsyndromic Hearing LossMargaret Kenna; Fiscal Year: 2005..This information will be used to evaluate the effectiveness of genetic counseling associated with gene testing for deafness. ..
- Growth Factors and Colon CancerMARTHA OR MARTY SLATTERY; Fiscal Year: 2006..This study builds on a unique existing resource to study genetic and environmental associations with colorectal cancer. It will provide insight into colon cancer etiology and therefore avenues to disease prevention. ..
- A PROSPECTIVE STUDY OF ALASKA NATIVES & AMERICAN INDIANSMARTHA OR MARTY SLATTERY; Fiscal Year: 2006..The AIAN cohort will serve as a resource to enhance research and training activities of AIAN students interested in health research, health education, and general public health. ..
- Aromatase Inhibitor in Males with Adrenal HyperplasiaKyriakie Sarafoglou; Fiscal Year: 2006..unreadable] [unreadable]..
- DIET AND SOMATIC MUTATIONS IN COLON CANCERMARTHA OR MARTY SLATTERY; Fiscal Year: 2007..e. p53, K-ras, and microsatellite instability). Differences in colon and rectal tumors will be compared. Additionally data from rectal tumors will be combined with that from colon tumors to define disease pathways. ..
- Application of genomic approaches to classify retinoblastoma tumorsArupa Ganguly; Fiscal Year: 2008..This will allow us to identify molecular signatures associated with risk of RB recurrence. [unreadable] [unreadable] [unreadable] [unreadable]..
- FOUR-CORNERS BREAST AND ENDOMETRIAL CANCER STUDYMARTHA OR MARTY SLATTERY; Fiscal Year: 2003..C-peptide, glycosylated hemoglobin, IGF-1, and IGFBP3 will be evaluated with respect to breast and endometrial cancer in a subset of women. ..
- Inhibitors of Yersinia Yop Type III Secretion(RMI)Joan Mecsas; Fiscal Year: 2005..In addition, these inhibitors will be valuable tools to probe the structure and function of type III secretion systems encoded by Yersinia species and other Gram-negative bacterial pathogens. ..
- PHOSPHATE TRANSPORT PATHS WITHIN HOMODIMERIC PTPHartmut Wohlrab; Fiscal Year: 2001..The structure will permit the accurate localization of the functionally relevant residues and regions of PTP and should lead to a good understanding of transmembrane metabolite transport. ..
- Genetics of Survival of Yersinia pseudotuberculosisJoan Mecsas; Fiscal Year: 2002..In addition, studies of yop mutant Yersinia strains in mouse strains with specific immune defects may indicate the facets of the immune system targeted by each Yop. ..
- STRUCTURE/FUNCTION OF YEAST DNA POLYMERASE DELTAPETER BURGERS; Fiscal Year: 2002..Improper regulation of these processes in humans may lead to cancer. ..
- FACTORS AFFECTING SURVIVAL OF YOUNG CANCER PATIENTSKathleen Malone; Fiscal Year: 2002....
- MOLECULAR PHYSIOLOGY OF BAND 3 LIKE PROTEINS OF KIDNEYSeth Alper; Fiscal Year: 2007..5. Define aspects of transcriptional and translational regulation of AE gene products in kidney of mutant and parental mouse strains and in cultured kidney cells. ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2007..abstract_text> ..
- Sickle Red Cell K+ Transporter Genetics in S. cerevisiaeSeth Alper; Fiscal Year: 2002..3) (Provisional Aim): Time permitting, to improve, validate, and standardize growth rescue of trk1delta/trk2delta S. cerevisiae by expression in nonpermissive conditions of cDNA encoding the mammalian IK1 K(ca) channel. ..
- SHORT-TERM TRAINING FOR MINORITY STUDENTS PROGRAMJoan Mecsas; Fiscal Year: 2007..Our long-range goal is for these students to become independent scientists in academia or industry, and in this capacity, serve as mentors for other minority students. ..