Genomes and Genes
Alias: man, Homo sapiens, Homo sapiens Linnaeus, 1758
Publications474 found, 100 shown here
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisD R Rosen
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown 02129
Nature 362:59-62. 1993..Given this linkage and the potential role of free radical toxicity in other neurodenegerative disorders, we investigated SOD1 as a candidate gene in FALS. We identified 11 different SOD1 missense mutations in 13 different FALS families...
- Mutation in the alpha-synuclein gene identified in families with Parkinson's diseaseM H Polymeropoulos
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
Science 276:2045-7. 1997..it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the long arm of human chromosome 4...
- Positional cloning of the mouse obese gene and its human homologueY Zhang
Howard Hughes Medical Institute, Rockefeller University, New York, New York 10021
Nature 372:425-32. 1994..The ob gene product may function as part of a signalling pathway from adipose tissue that acts to regulate the size of the body fat depot...
- The hallmarks of cancerD Hanahan
Department of Biochemistry, Hormone Research Institute, University of California at San Francisco, 94143, USA
Cell 100:57-70. 2000
- Interleukin-10 and the interleukin-10 receptorK W Moore
Department of Molecular Biology, DNAX Research Institute of Molecular and Cellular Biology Inc, Palo Alto, California 94304, USA
Annu Rev Immunol 19:683-765. 2001..This review highlights findings that have advanced our understanding of IL-10 and its receptor, as well as its in vivo function in health and disease...
- An integrated genomic analysis of human glioblastoma multiformeD Williams Parsons
Ludwig Center for Cancer Genetics and Therapeutics, and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 321:1807-12. 2008..oligonucleotide arrays, and performed gene expression analyses using next-generation sequencing technologies in 22 human tumor samples...
- A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDAlan E Renton
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Neuron 72:257-68. 2011..The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date...
- Functional impact of global rare copy number variation in autism spectrum disordersDalila Pinto
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
Nature 466:368-72. 2010..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways...
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskJosee Dupuis
Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
Nat Genet 42:105-16. 2010....
- Initial sequencing and analysis of the human genomeE S Lander
Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, MA 02142, USA
Nature 409:860-921. 2001The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution...
- Ghrelin is a growth-hormone-releasing acylated peptide from stomachM Kojima
Department of Biochemistry, National Cardiovascular Center Research Institute, Suita, Osaka, Japan
Nature 402:656-60. 1999..We designate the GH-releasing peptide 'ghrelin' (ghre is the Proto-Indo-European root of the word 'grow'). Human ghrelin is homologous to rat ghrelin apart from two amino acids...
- LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processingY Kabeya
Department of Cell Biology, National Institute for Basic Biology, Okazaki 444 8585, PRESTO, Japan
EMBO J 19:5720-8. 2000..The amount of LC3-II is correlated with the extent of autophagosome formation. LC3-II is the first mammalian protein identified that specifically associates with autophagosome membranes...
- RAS is regulated by the let-7 microRNA familySteven M Johnson
Department of Molecular, Cellular and Developmental Biology, Yale University, P O Box 208103, New Haven, CT 06520, USA
Cell 120:635-47. 2005..The 3'UTRs of the human RAS genes contain multiple LCSs, allowing let-7 to regulate RAS expression...
- miR-15 and miR-16 induce apoptosis by targeting BCL2Amelia Cimmino
Department of Molecular Virology, Immunology, and Medical Genetics and Comprehensive Cancer Center, Ohio State University, Columbus OH 43210, USA
Proc Natl Acad Sci U S A 102:13944-9. 2005Chronic lymphocytic leukemia (CLL) is the most common human leukemia and is characterized by predominantly nondividing malignant B cells overexpressing the antiapoptotic B cell lymphoma 2 (Bcl2) protein...
- Identification of host proteins required for HIV infection through a functional genomic screenAbraham L Brass
Department of Genetics, Center for Genetics and Genomics, Brigham and Women s Hospital, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
Science 319:921-6. 2008..This effort illustrates the power with which RNA interference and forward genetics can be used to expose the dependencies of human pathogens such as HIV, and in so doing identify potential targets for therapy.
- The nuclear RNase III Drosha initiates microRNA processingYoontae Lee
Institute of Molecular Biology and Genetics and School of Biological Sciences, Seoul National University, Seoul 151 742, Korea
Nature 425:415-9. 2003..Here we identify another RNase III, human Drosha, as the core nuclease that executes the initiation step of miRNA processing in the nucleus...
- SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by VpxNadine Laguette
Institut de Genetique Humaine, Laboratoire de Virologie Moleculaire, CNRS UPR1142, Montpellier 34000, France
Nature 474:654-7. 2011The primate lentivirus auxiliary protein Vpx counteracts an unknown restriction factor that renders human dendritic and myeloid cells largely refractory to HIV-1 infection. Here we identify SAMHD1 as this restriction factor...
- Genome-wide mapping of in vivo protein-DNA interactionsDavid S Johnson
Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305 5120, USA
Science 316:1497-502. 2007..factor (NRSF; also known as REST, for repressor element-1 silencing transcription factor) to 1946 locations in the human genome...
- NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responsesKonstantin D Taganov
Division of Biology, California Institute of Technology, 1200 East California Boulevard, Pasadena, CA 91125, USA
Proc Natl Acad Sci U S A 103:12481-6. 2006..Expression profiling of 200 microRNAs in human monocytes revealed that several of them (miR-146a/b, miR-132, and miR-155) are endotoxin-responsive genes...
- A human colon cancer cell capable of initiating tumour growth in immunodeficient miceCatherine A O'Brien
Division of Cell and Molecular Biology, University Health Network, Toronto, Ontario, M5G 1L7, Canada
Nature 445:106-10. 2007..Here we use renal capsule transplantation in immunodeficient NOD/SCID mice to identify a human colon cancer-initiating cell (CC-IC)...
- Tetherin inhibits retrovirus release and is antagonized by HIV-1 VpuStuart J D Neil
Aaron Diamond AIDS Research Center and Laboratory of Retrovirology, The Rockefeller University, 455 First Avenue, New York, New York 10016, USA
Nature 451:425-30. 2008b>Human cells possess an antiviral activity that inhibits the release of retrovirus particles, and other enveloped virus particles, and is antagonized by the HIV-1 accessory protein, Vpu...
- Biological, clinical and population relevance of 95 loci for blood lipidsTanya M Teslovich
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
Nature 466:707-13. 2010..Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD...
- Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectEwan Birney
Nature 447:799-816. 2007..generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project...
- Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisManuela Neumann
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Science 314:130-3. 2006..TDP-43 represents the common pathologic substrate linking these neurodegenerative disorders...
- Exome sequencing identifies the cause of a mendelian disorderSarah B Ng
Department of Genome Sciences, University of Washington, Seattle, Washington, USA
Nat Genet 42:30-5. 2010..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
- Long non-coding RNA HOTAIR reprograms chromatin state to promote cancer metastasisRajnish A Gupta
Howard Hughes Medical Institute and Program in Epithelial Biology, California 94305, USA
Nature 464:1071-6. 2010..non-coding RNAs (lincRNAs) are pervasively transcribed in the genome yet their potential involvement in human disease is not well understood...
- Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemiaGeorge Adrian Calin
Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA
Proc Natl Acad Sci U S A 99:15524-9. 2002..Detailed deletion and expression analysis shows that miR15 and miR16 are located within a 30-kb region of loss in CLL, and that both genes are deleted or down-regulated in the majority ( approximately 68%) of CLL cases...
- Tumour invasion and metastasis initiated by microRNA-10b in breast cancerLi Ma
Whitehead Institute for Biomedical Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nature 449:682-8. 2007..Here we show, using a combination of mouse and human cells, that microRNA-10b (miR-10b) is highly expressed in metastatic breast cancer cells and positively regulates ..
- ALDH1 is a marker of normal and malignant human mammary stem cells and a predictor of poor clinical outcomeChristophe Ginestier
Department of Internal Medicine, Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA
Cell Stem Cell 1:555-67. 2007..Utilizing in vitro and in vivo experimental systems, we show that normal and cancer human mammary epithelial cells with increased aldehyde dehydrogenase activity (ALDH) have stem/progenitor properties...
- A diverse range of gene products are effectors of the type I interferon antiviral responseJohn W Schoggins
Laboratory of Virology and Infectious Disease, Center for the Study of Hepatitis C, The Rockefeller University, New York, New York 10065, USA
Nature 472:481-5. 2011..To conduct the screen, more than 380 human ISGs were tested for their ability to inhibit the replication of several important human and animal viruses, ..
- Upstream and downstream of mTORNissim Hay
Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, 60607, USA
Genes Dev 18:1926-45. 2004..We also summarize the roles of mTOR in the control of cell growth and proliferation, as well as its relevance to cancer and synaptic plasticity...
- Involvement of chemokine receptors in breast cancer metastasisA Muller
Department of Immunology, DNAX Research Institute, Palo Alto, California 94304, USA
Nature 410:50-6. 2001..Here we report that the chemokine receptors CXCR4 and CCR7 are highly expressed in human breast cancer cells, malignant breast tumours and metastases...
- MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signalingJeffrey A Engelman
Massachusetts General Hospital Cancer Center, Boston, MA 02114, USA
Science 316:1039-43. 2007..Thus, we propose that MET amplification may promote drug resistance in other ERBB-driven cancers as well...
- Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 proteinKasia Hrecka
Department of Molecular Biology and Microbiology, Case School of Medicine, Cleveland, Ohio 44106, USA
Nature 474:658-61. 2011..b>Human immunodeficiency virus 1 (HIV-1) fails to transduce dendritic cells and has a reduced ability to transduce ..
- The biochemistry of apoptosisM O Hengartner
Cold Spring Harbor Laboratory, New York 11724, USA
Nature 407:770-6. 2000..Here I review the basic components of the death machinery, describe how they interact to regulate apoptosis in a coordinated manner, and discuss the main pathways that are used to activate cell death...
- Akt promotes cell survival by phosphorylating and inhibiting a Forkhead transcription factorA Brunet
Children s Hospital and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
Cell 96:857-68. 1999..Within the nucleus, FKHRL1 triggers apoptosis most likely by inducing the expression of genes that are critical for cell death, such as the Fas ligand gene...
- Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancerEric Van Cutsem
University Hospital Gasthuisberg, Digestive Oncology Unit, Herestraat 49, 3000 Leuven, Belgium
N Engl J Med 360:1408-17. 2009....
- Genome-wide association study reveals genetic risk underlying Parkinson's diseaseJavier Simon-Sanchez
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 41:1308-12. 2009..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease...
- MicroRNA-21 regulates expression of the PTEN tumor suppressor gene in human hepatocellular cancerFanyin Meng
Department of Internal Medicine, Scott and White Clinic, Texas A and M University System Health Science Center College of Medicine, Temple, Texas, USA
Gastroenterology 133:647-58. 2007..Although a role for aberrant miRNA expression in cancer has been postulated, the pathophysiologic role and relevance of aberrantly expressed miRNA to tumor biology has not been established...
- Genetic variation in IL28B and spontaneous clearance of hepatitis C virusDavid L Thomas
Johns Hopkins University, Division of Infectious Diseases, Baltimore, Maryland 21205, USA
Nature 461:798-801. 2009..To our knowledge, this is the strongest and most significant genetic effect associated with natural clearance of HCV, and these results implicate a primary role for IL28B in resolution of HCV infection...
- HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolaseDavid C Goldstone
Division of Molecular Structure, MRC National Institute for Medical Research, London NW7 1AA, UK
Nature 480:379-82. 2011SAMHD1, an analogue of the murine interferon (IFN)-γ-induced gene Mg11 (ref. 1), has recently been identified as a human immunodeficiency virus-1 (HIV-1) restriction factor that blocks early-stage virus replication in dendritic and ..
- Argonaute HITS-CLIP decodes microRNA-mRNA interaction mapsSung Wook Chi
Laboratory of Molecular Neuro Oncology and Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, New York 10021, USA
Nature 460:479-86. 2009..Ago HITS-CLIP provides a general platform for exploring the specificity and range of miRNA action in vivo, and identifies precise sequences for targeting clinically relevant miRNA-mRNA interactions...
- Long noncoding RNA as modular scaffold of histone modification complexesMiao Chih Tsai
Howard Hughes Medical Institute and Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
Science 329:689-93. 2010..Our results suggest that lincRNAs may serve as scaffolds by providing binding surfaces to assemble select histone modification enzymes, thereby specifying the pattern of histone modifications on target genes...
- A large-scale, consortium-based genomewide association study of asthmaMiriam F Moffatt
National Heart and Lung Institute, Imperial College, London, United Kingdom
N Engl J Med 363:1211-21. 2010..Genetic risk factors may be useful in identifying subtypes of asthma and determining whether intermediate phenotypes, such as elevation of the total serum IgE level, are causally linked to disease...
- Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinomaTony S Mok
State Key Laboratory in Oncology in South China, Sir YK Pao Centre for Cancer, Department of Clinical Oncology, Chinese University of Hong Kong, Hong Kong
N Engl J Med 361:947-57. 2009..Previous, uncontrolled studies have suggested that first-line treatment with gefitinib would be efficacious in selected patients with non-small-cell lung cancer...
- IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapyVijayaprakash Suppiah
Storr Liver Unit, University of Sydney, Sydney, Australia
Nat Genet 41:1100-4. 2009..These data suggest that host genetics may be useful for the prediction of drug response, and they also support the investigation of the role of IL28B in the treatment of HCV and in other diseases treated with IFN-alpha...
- Structures of the CXCR4 chemokine GPCR with small-molecule and cyclic peptide antagonistsBeili Wu
Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Science 330:1066-71. 2010..These structures provide new clues about the interactions between CXCR4 and its natural ligand CXCL12, and with the HIV-1 glycoprotein gp120...
- A microRNA component of the p53 tumour suppressor networkLin He
Watson School of Biological Sciences, Howard Hughes Medical Institute, Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA
Nature 447:1130-4. 2007A global decrease in microRNA (miRNA) levels is often observed in human cancers, indicating that small RNAs may have an intrinsic function in tumour suppression...
- Amyloid-beta protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memoryGanesh M Shankar
Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
Nat Med 14:837-42. 2008..Despite extensive research in cellular and animal models, identifying the pathogenic agent present in the human brain and showing that it confers key features of Alzheimer's disease has not been achieved...
- EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapyJ Guillermo Paez
Departments of Medical Oncology and Cancer Biology, Dana Farber Cancer Institute, Boston, MA 02115, USA
Science 304:1497-500. 2004..These results suggest that EGFR mutations may predict sensitivity to gefitinib...
- Identification and characterization of transmitted and early founder virus envelopes in primary HIV-1 infectionBrandon F Keele
Departments of Medicine and Microbiology, University of Alabama at Birmingham, Birmingham, AL 35223, USA
Proc Natl Acad Sci U S A 105:7552-7. 2008....
- Toll-like receptor triggering of a vitamin D-mediated human antimicrobial responsePhilip T Liu
Department of Microbiology, Immunology, and Molecular Genetics, University of California at Los Angeles, Los Angeles, CA 90095, USA
Science 311:1770-3. 2006..receptors (TLRs) triggers direct antimicrobial activity against intracellular bacteria, which in murine, but not human, monocytes and macrophages is mediated principally by nitric oxide...
- p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagySerhiy Pankiv
Biochemistry Department, Institute of Medical Biology, University of Tromsø, 9037 Tromsø, Norway
J Biol Chem 282:24131-45. 2007..In fact, p62 bodies and these structures are indistinguishable. Taken together, our results clearly suggest that p62 is required both for the formation and the degradation of polyubiquitin-containing bodies by autophagy...
- Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclassesMoran N Cabili
Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts 02142, USA
Genes Dev 25:1915-27. 2011..Here, we present an integrative approach to define a reference catalog of >8000 human lincRNAs...
- Reprogramming of human somatic cells to pluripotency with defined factorsIn Hyun Park
Division of Pediatric Hematology Oncology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
Nature 451:141-6. 2008..Using these same factors, we have derived iPS cells from fetal, neonatal and adult human primary cells, including dermal fibroblasts isolated from a skin biopsy of a healthy research subject...
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's diseaseDenise Harold
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Nat Genet 41:1088-93. 2009..5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86)...
- The NOX family of ROS-generating NADPH oxidases: physiology and pathophysiologyKaren Bedard
Biology of Ageing Laboratories, University of Geneva, Geneva, Switzerland
Physiol Rev 87:245-313. 2007..This review summarizes the current state of knowledge of the functions of NOX enzymes in physiology and pathology...
- Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1Mamta Tahiliani
Department of Pathology, Harvard Medical School and Immune Disease Institute, 200 Longwood Avenue, Boston, MA 02115, USA
Science 324:930-5. 2009..hmC is present in the genome of mouse embryonic stem cells, and hmC levels decrease upon RNA interference-mediated depletion of TET1. Thus, TET proteins have potential roles in epigenetic regulation through modification of 5mC to hmC...
- Identification of stem cells in small intestine and colon by marker gene Lgr5Nick Barker
Hubrecht Institute, Uppsalalaan 8, 3584CT Utrecht, The Netherlands
Nature 449:1003-7. 2007..The expression pattern of Lgr5 suggests that it marks stem cells in multiple adult tissues and cancers...
- The miR-200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1Philip A Gregory
Hanson Institute and Division of Human Immunology, Institute of Medical and Veterinary Science, Adelaide, SA 5000, Australia
Nat Cell Biol 10:593-601. 2008..Expression of the miR-200 family was also lost in regions of metaplastic breast cancer specimens lacking E-cadherin. These data suggest that downregulation of the microRNAs may be an important step in tumour progression...
- Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFRMakoto Maemondo
Miyagi Cancer Center, Miyagi, Japan
N Engl J Med 362:2380-8. 2010....
- DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian developmentM Okano
Cardiovascular Research Center, Massachusetts General Hospital, Department of Medicine, Harvard Medical School, Charlestown 02129, USA
Cell 99:247-57. 1999..Mutations of human DNMT3B are found in ICF syndrome, a developmental defect characterized by hypomethylation of pericentromeric ..
- Genes that mediate breast cancer metastasis to lungAndy J Minn
Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Nature 436:518-24. 2005..Others contribute to aggressive growth selectively in the lung. Many encode extracellular proteins and are of previously unknown relevance to cancer metastasis...
- Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis CYasuhito Tanaka
Department of Clinical Molecular Informative Medicine, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
Nat Genet 41:1105-9. 2009..52 x 10(-28)-2.68 x 10(-32); OR = 22.3-27.1). Real-time quantitative PCR assays in peripheral blood mononuclear cells showed lower IL28B expression levels in individuals carrying the minor alleles (P = 0.015)...
- Induced pluripotent stem cell lines derived from human somatic cellsJunying Yu
Genome Center of Wisconsin, Madison, WI 53706 1580, USA
Science 318:1917-20. 2007..We show that four factors (OCT4, SOX2, NANOG, and LIN28) are sufficient to reprogram human somatic cells to pluripotent stem cells that exhibit the essential characteristics of embryonic stem (ES) cells...
- Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancerManabu Soda
Division of Functional Genomics, Jichi Medical University, Tochigi 329 0498, Japan
Nature 448:561-6. 2007..Mouse 3T3 fibroblasts forced to express this human fusion tyrosine kinase generated transformed foci in culture and subcutaneous tumours in nude mice...
- Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's diseaseJean Charles Lambert
INSERM U744, Lille, France
Nat Genet 41:1094-9. 2009..Previous biological studies support roles of CLU and CR1 in the clearance of beta amyloid (Abeta) peptide, the principal constituent of amyloid plaques, which are one of the major brain lesions of individuals with Alzheimer's disease...
- Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1Roel G W Verhaak
The Eli and Edythe L Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA
Cancer Cell 17:98-110. 2010..We provide a framework that unifies transcriptomic and genomic dimensions for GBM molecular stratification with important implications for future studies...
- Lysine acetylation targets protein complexes and co-regulates major cellular functionsChunaram Choudhary
Proteomics and Signal Transduction, Max Planck Institute for Biochemistry, Martinsried, Germany
Science 325:834-40. 2009..Our data demonstrate that the regulatory scope of lysine acetylation is broad and comparable with that of other major posttranslational modifications...
- Patterns and rates of exonic de novo mutations in autism spectrum disordersBenjamin M Neale
Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Nature 485:242-5. 2012..Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors...
- Crystal structure of a soluble cleaved HIV-1 envelope trimerJean Philippe Julien
Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
Science 342:1477-83. 2013..This trimer structure advances our understanding of how Env functions and is presented to the immune system, and provides a blueprint for structure-based vaccine design. ..
- A Toll-like receptor recognizes bacterial DNAH Hemmi
Department of Host Defense, Research Institute for Microbial Diseases, Osaka University and Core Research for Evolutional Science and Technology, Japan Science and Technology Corporation, Suita
Nature 408:740-5. 2000..The in vivo CpG-DNA-mediated T-helper type-1 response was also abolished in TLR9-/- mice. Thus, vertebrate immune systems appear to have evolved a specific Toll-like receptor that distinguishes bacterial DNA from self-DNA...
- De novo mutations revealed by whole-exome sequencing are strongly associated with autismStephan J Sanders
Program on Neurogenetics, Child Study Center, Department of Psychiatry, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
Nature 485:237-41. 2012....
- Switching from repression to activation: microRNAs can up-regulate translationShobha Vasudevan
Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, CT 06536, USA
Science 318:1931-4. 2007..We show that human microRNA miR369-3 directs association of these proteins with the AREs to activate translation...
- Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's diseaseWataru Satake
Division of Neurology Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan
Nat Genet 41:1303-7. 2009..Our results identify two new PD susceptibility loci, show involvement of autosomal dominant parkinsonism loci in typical PD and suggest that population differences contribute to genetic heterogeneity in PD...
- 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..for these genes, we have prioritized for analysis signalling pathways in which at least one gene is mutated in human cancer. The RAS RAF MEK ERK MAP kinase pathway mediates cellular responses to growth signals...
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distributionIris M Heid
Regensburg University Medical Center, Department of Epidemiology and Preventive Medicine, Regensburg, Germany
Nat Genet 42:949-60. 2010..9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions...
- A human homologue of the Drosophila Toll protein signals activation of adaptive immunityR Medzhitov
Section of Immunobiology, Yale University School of Medicine, New Haven, Connecticut 06520 8011, USA
Nature 388:394-7. 1997..We report here the cloning and characterization of a human homologue of the Drosophila toll protein (Toll) which has been shown to induce the innate immune response in adult ..
- alpha-Synuclein locus triplication causes Parkinson's diseaseA B Singleton
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
Science 302:841. 2003
- Common polygenic variation contributes to risk of schizophrenia and bipolar disorderSHAUN M PURCELL
Nature 460:748-52. 2009..We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases...
- Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearanceDongliang Ge
Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Nature 461:399-401. 2009....
- A PGC1-α-dependent myokine that drives brown-fat-like development of white fat and thermogenesisPontus Boström
Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Nature 481:463-8. 2012..This results in improvements in obesity and glucose homeostasis. Irisin could be therapeutic for human metabolic disease and other disorders that are improved with exercise.
- Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trialRafael Rosell
Catalan Institute of Oncology, Badalona, Spain
Lancet Oncol 13:239-46. 2012..We aimed to assess the safety and efficacy of erlotinib compared with standard chemotherapy for first-line treatment of European patients with advanced EGFR-mutation positive NSCLC...
- Inhibition of glycogen synthase kinase-3 by insulin mediated by protein kinase BD A Cross
MRC Protein Phosphorylation Unit, Department of Biochemistry, University of Dundee, UK
Nature 378:785-9. 1995..Like the inhibition of GSK3 (refs 10, 14), the activation of PKB is prevented by inhibitors of phosphatidylinositol (PI) 3-kinase...
- Gene expression profiling predicts clinical outcome of breast cancerLaura J van 't Veer
Division of Diagnostic Oncology, The Netherlands Cancer Institute, 121 Plesmanlaan, 1066 CX Amsterdam, The Netherlands
Nature 415:530-6. 2002..This gene expression profile will outperform all currently used clinical parameters in predicting disease outcome. Our findings provide a strategy to select patients who would benefit from adjuvant therapy...
- Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriersPeter C Fong
Drug Development Unit, Royal Marsden National Health Service Foundation Trust and the Institute of Cancer Research, Sutton, Surrey, United Kingdom
N Engl J Med 361:123-34. 2009..We conducted a clinical evaluation in humans of olaparib (AZD2281), a novel, potent, orally active PARP inhibitor...
- Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trialTetsuya Mitsudomi
Department of Thoracic Surgery, Aichi Cancer Center Hospital, Chikusa ku, Nagoya, Japan
Lancet Oncol 11:121-8. 2010..However, whether gefitinib is better than standard platinum doublet chemotherapy in patients selected by EGFR mutation is uncertain...
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsBrian J O'Roak
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
Nature 485:246-50. 2012..Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics...
- Common structure of soluble amyloid oligomers implies common mechanism of pathogenesisRakez Kayed
Department of Molecular Biology and Biochemistry, University of California, Irvine, CA 92697 3900, USA
Science 300:486-9. 2003..Soluble oligomers have a unique distribution in human AD brain that is distinct from fibrillar amyloid...
- Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasisJing Yang
Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
Cell 117:927-39. 2004..In human breast cancers, high level of Twist expression is correlated with invasive lobular carcinoma, a highly ..
- 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. 2007Cancers 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 ..
- TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisJemeen Sreedharan
Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
Science 319:1668-72. 2008..Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS...
- DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139E P Rogakou
Laboratory of Molecular Pharmacology, Division of Basic Sciences, NCI, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 273:5858-68. 1998..Thus, gamma-H2AX formation is a rapid and sensitive cellular response to the presence of DNA double-stranded breaks, a response that may provide insight into higher order chromatin structures...
- Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complexD D Sarbassov
Whitehead Institute for Biomedical Research and Department of Biology, Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, MA 02142, USA
Science 307:1098-101. 2005..We show that in Drosophila and human cells the target of rapamycin (TOR) kinase and its associated protein rictor are necessary for Ser473 ..
- Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulationRamin Nazarian
Division of Dermatology Department of Medicine, UCLA s Jonsson Comprehensive Cancer Center, 52 121 CHS, Los Angeles, California 90095 1750, USA
Nature 468:973-7. 2010Activating B-RAF(V600E) (also known as BRAF) kinase mutations occur in ∼7% of human malignancies and ∼60% of melanomas...
- Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosisTsung Cheng Chang
The McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Mol Cell 26:745-52. 2007..One such miRNA, miR-34a, is commonly deleted in human cancers and, as shown here, frequently absent in pancreatic cancer cells...
- TERT promoter mutations in familial and sporadic melanomaSusanne Horn
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany
Science 339:959-61. 2013..in sporadic melanoma and observed recurrent ultraviolet signature somatic mutations in 125 of 168 (74%) of human cell lines derived from metastatic melanomas, 45 of 53 corresponding metastatic tumor tissues (85%), and 25 of 77 (..
- Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alphaMarie Lagouge
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, 67404 Illkirch, France
Cell 127:1109-22. 2006..These pharmacological effects of RSV combined with the association of three Sirt1 SNPs and energy homeostasis in Finnish subjects implicates SIRT1 as a key regulator of energy and metabolic homeostasis...
- XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factorH Yoshida
Graduate School of Biostudies, Kyoto University, Kyoto 606 8304, Japan
Cell 107:881-91. 2001..Our results reveal features of the UPR conserved during evolution and clarify the relationship between IRE1- and ATF6-dependent pathways...
- The Microprocessor complex mediates the genesis of microRNAsRichard I Gregory
The Wistar Institute, 3601 Spruce Street, Philadelphia, Pennsylvania 19104, USA
Nature 432:235-40. 2004..Drosha is an RNase III enzyme that was recently implicated in miRNA processing. Here we show that human Drosha is a component of two multi-protein complexes...
Research Grants105 found, 100 shown here
- Rituximab Therapy in Refractory Adult and Juvenile IIMCHARLES ODDIS; Fiscal Year: 2009..Rituximab is a chimeric, murine-human, genetically engineered monoclonal antibody directed against the CD20 antigen found on the surface B-lymphocytes ..
- Rituximab Therapy in Refractory Adult and Juvenile IIMCHARLES ODDIS; Fiscal Year: 2010..Rituximab is a chimeric, murine-human, genetically engineered monoclonal antibody directed against the CD20 antigen found on the surface B-lymphocytes ..
- Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical IllnessEva Szigethy; Fiscal Year: 2009..abstract_text> ..
- Robot-Assisted MRI-Guided Prostate BiopsyDan Stoianovici; Fiscal Year: 2010..This is partially true because the needle is guided to regions of the gland known to develop cancer in man, but is not patient specific...
- MARA YVONNE ROTH; Fiscal Year: 2015..The clinical trials described in this proposal, coupled with didactic training and workshops in career development, provide the skills and expertise necessary for an independent investigative career. ..
- Fertility Preservation in Prepubertal Boys: An Experimental ApproachJILL PHILLIPS GINSBERG; Fiscal Year: 2010..The success of this research has created an exciting potential for translation to human clinical practice, particularly for patients who are facing cancer therapy that will leave them infertile...
- Susan M Noworolski; Fiscal Year: 2014..Biopsy is not performed in all men at risk and misses cancer in 30-50% of its cases. Once diagnosed, a man faces the dilemma of choosing aggressive therapy, with its undesired side effects, or risking metastases and death...
- Russell S Taichman; Fiscal Year: 2015..The proposed TMEN is composed of three highly interactive and complementary projects that are supported by a Human Sample Acquisition Core (HSAC)...
- ROBIN JEAN LEACH; Fiscal Year: 2014..provided by applicant): Prostate cancer is the most common non-dermatologic neoplasm in men, affecting about one man in six in his lifetime...
- Baowei Fei; Fiscal Year: 2016..PET) with a new molecular imaging tracer FACBC has shown very promising results for prostate cancer detection in human patients...
- LCM Analysis and Mouse Models to Validate miRs in Prostate Tumor ProgressionZENDRA ELIZABETH ZEHNER; Fiscal Year: 2012..using Laser Capture Microdissection (LCM) of Formalin-Fixed Paraffin Embedded (FFPE) or frozen biopsy sections of human prostate tumors to determine which miRs are differentially expressed in actual tumor cells and could be causative ..
- Viraj Master; Fiscal Year: 2014..study is to evaluate a new, molecular image directed, three-dimensional (3D) ultrasound guided biopsy system in human patients...
- Adiposity and Outcomes of Clinically Localized Prostate CancerVincent L Freeman; Fiscal Year: 2013..the biological reasons why obesity associates with more "aggressive" prostate cancer at diagnosis and decreases a man's chances for cure with surgery...
- CEREBRAL FUNCTION AFTER HYPOTHERMIC CIRCULATORY ARRESTGabriele DiLuozzo; Fiscal Year: 2012..The anatomy of spinal cord perfusion is very similar in the pig and in man, and the pathophysiology of spinal cord ischemia following extensive sacrifice of segmental arteries is also ..
- David A Bushinsky; Fiscal Year: 2016..The majority of human kidney stone formers with Ca-containing kidney stones is hypercalciuric and often excretes more Ca than they ..
- Barbara Savoldo; Fiscal Year: 2016..On completion of this first-in-man study we will know whether the infusion of CAR+ T cells is safe, and whether the cells persist and have in vivo ..
- Effects of Endocrine Disruptors on Endometriosis Risk in Reproductive Age WomenKristen Upson; Fiscal Year: 2012..are EDCs that mimic or alter endogenous hormone activity, however, little data exists about the potential adult human health effects posed by these EDCs...
- ProHealing Drug Alternative for Coronary Drug Eluting StentsPATRICK SL WONG; Fiscal Year: 2012..pharmacokinetics/dynamics, potentially a fully bioabsorbable stent, GLP Animal Studies and preparation for First-in-Man. PUBLIC HEALTH RELEVANCE: Our goal is to develop a novel approach for treating coronary artery disease, by ..
- Coronary Post-Dilatation CatheterMARK CHRISTIAN SVENDSEN; Fiscal Year: 2013..this Phase I project, we expect a quick and logical translation of the CB catheter system to a Phase II project in man. This project has the ability to impact patients with multiple comorbidities and reach across various NIH ..
- Mechanisms of Triterpenoids in Prevention of Prostate CancerSubhash C Gautam; Fiscal Year: 2011..the efficacy and mechanism of action of CDDO-Me as a safe chemopreventive/therapeutic agent for prostate cancer in man. PUBLIC HELATH RELEVANCE Because the development of prostate cancer progresses slowly over a long period of time, ..
- Mechanistic Studies of MUC4 and NGAL in Pancreatic AdenocarcinomaMICHAEL JAMES BAINE; Fiscal Year: 2012..MUC4 is a large-sized membrane- anchored mucin which is aberrantly overexpressed by most human carcinomas...
- IONA C CHENG; Fiscal Year: 2015DESCRIPTION (provided by applicant): The obesogenic environment characterized by man-made or modifiable aspects of an individual's surroundings such as access to food sources, physical activity venues, and physical features ..
- NIH Director's Pioneer AwardERICH JARVIS; Fiscal Year: 2009..Language is one of the essential behaviors that make us human. With it, we are able to communicate complex concepts, pass on knowledge culturally, and advance human ..
- GENETICS OF MPTP-INDUCED PARKINSONISMRichard Smeyne; Fiscal Year: 2009..The results of this study should lead to a better understanding of the pathogenesis of experimental and possible human Parkinson's disease...
- NICHOLE MARIE DANZL; Fiscal Year: 2014..We have developed a humanized mouse model in which robust human immune systems are generated from adult bone marrow HSCs...
- TOD EDWARD KIPPIN; Fiscal Year: 2014..data indicates broad-spectrum increases in neuropsychiatric disease for that are in utero during natural and man- made disaster...
- Immune Response to Polyomavirus InfectionRAPHAEL PAUL VISCIDI; Fiscal Year: 2012..generated by studying BKV will be relevant to understanding the immune response to several other polyomaviruses widely prevalent in man, including polyomaviruses JC, WI, and KU, Merkel cell virus, and Trichodysplasia spinulosa virus.
- ANTIGEN SPECIFIC T CELL TOLERANCE BY ANTI CD3 ANTIBODIESClaudio Anasetti; Fiscal Year: 2012..Visilizumab is more effective than other anti-CD3 mAbs in inducing AICD of activated, cycling human T cells...
- MARGARET ELIZABETH ROSS; Fiscal Year: 2015..take advantage of a disorder, neural tube defects (NTDs), in which the existing mouse models closely parallel the human disease and in which several lines of evidence indicate a strong influence in both mouse and man of epigenetic ..
- PETER R PARHAM; Fiscal Year: 2016..been shown to be HLA class I determinants, but the ligands of activating KIR, which comprise almost half of the human KIR repertoire, are largely unknown...
- MARK B VAN DOREN; Fiscal Year: 2016..eggs. Thus, it is an essential aspect of animal sexual reproduction and human fertility...
- Cliona M Rooney; Fiscal Year: 2016..Thus, investigators with exemplary records of interactive research have designed "first-in-man" studies that would each address one or more of these issues...
- Phase 1 of AR-42 in relapsed CLL, lymphoma, myelomaCraig C Hofmeister; Fiscal Year: 2012..The overall objective of this application is to conduct a first-in-man phase I clinical trial of AR-42 in patients with relapsed lymphoma, myeloma, and CLL to document safety, obtain a ..
- Computational Methods for Functional Genomic Discovery from Gene Knockout StudiesKENNETH L DRAKE; Fiscal Year: 2011..gene in the mouse genome - important for deciphering the complexity of biological systems of mice and ultimately man. It is anticipated that a new generation of multi-perturbation/KO studies with a biological system perspective will ..
- JOSEPH VINCENT BONVENTRE; Fiscal Year: 2016..Furthermore primary damage to the PT using transgenic animals expressing the human diphtheria toxin receptor leads to inflammation, fibrosis, vascular rarefaction and glomerulosclerosis...
- THE FRAMINGHAM SCHOOL STUDY OF NEVI IN CHILDREN SONIC IIAllan C Halpern; Fiscal Year: 2013DESCRIPTION (provided by applicant): Nevi are among the most common skin lesions in man and are critically important risk markers and potential precursors of malignant melanoma...
- Randy D Blakely; Fiscal Year: 2016..Our recent identification of multiple, functional alleles of human DAT in ADHD and Bipolar disorder subjects adds translational significance to our efforts to decipher the ..
- In vivo assessment of T cell kinetics in individuals at risk for Type 1 diabetesCarla J Greenbaum; Fiscal Year: 2013..Further, Treg from both NOD mice and human type 1 diabetes subjects expand and function in vitro but there are indications that analogous cells in vivo have ..
- Defining the functional impact of T1D genes in mouse and man: a unified strategyJane Hoyt Buckner; Fiscal Year: 2013..individuals poses further complexity to the study of the functional consequences of variation in genes in the human subjects, while murine models may not reflect the impact of a gene on the human immune response...
- Signaling Pathways in Neuronal CellsMarsha R Rosner; Fiscal Year: 2013..An evolutionarily conserved protein that is expressed from bacteria to man, RKIP inhibits MAP kinase (Raf-MEK-ERK), G protein-coupled receptor (GPCR) kinase and NFkB signaling cascades...
- Mitf-Signal Responsive Transcription in OsteoclastsDavid Fisher; Fiscal Year: 2009..which modulate their expression stand to provide important new targets for the treatment of bone disorders in man. We observed that dominant negative alleles of Mitf produce severe osteopetrosis whereas null alleles do not...
- ELLEN PURE'; Fiscal Year: 2014..Our preliminary data establish that FAP+ cells are a prominent component of human lung cancers and that genetic deletion of FAP indirectly inhibits tumor cell proliferation in mouse models...
- Douglas R Cavener; Fiscal Year: 2016..Moreover, mutations in Perk are the most common cause of consanguineous permanent neonatal diabetes in man. Our investigation of global and tissue-specific Perk KO mice led to the discovery that PERK is required for normal ..
- Yun Fai Chris Lau; Fiscal Year: 2014..applicant): The testis-specific protein Y-encoded (TSPY) gene is a tandemly repeated gene on the short arm of the human Y chromosome. Its 2...
- REGULATION AND FUNCTION OF STE20-RELATED PROTEIN KINASESMelanie H Cobb; Fiscal Year: 2012..WNKs are required for development and survival, and affect growth control in organisms ranging from worms to man. Mutations in either WNK1 or WNK4 cause pseudohypoaldosteronism type II (PHA II), a form of high blood pressure ..
- Vitamin D and Estrogen Action in Bone: Concerted Role for hnRNPs in the C FamilyJohn S Adams; Fiscal Year: 2013..Our investigation of this "experiment of nature" and that of an adolescent human female with a similar phenotype led us to the discovery of a novel means for vitamin D and estrogen resistance in ..
- Jian Li; Fiscal Year: 2016..Formulations for intravenous delivery will be developed for the candidates before the first dose in man. Aim 5: To conduct IND-enabling toxicology studies...
- Gene Therapy with Cardiotropic Vectors for the Treatment of Heart FailureRoger J Hajjar; Fiscal Year: 2013..One of the key abnormalities in both human and experimental HF is a defect in sarcoplasmic reticulum (SR) function, which is responsible for abnormal ..
- RAMON E PARSONS; Fiscal Year: 2016..perhaps the best understood pathway involving these genes is the insulin/IGF pathway, which is conserved in homo sapiens, c. elegans and drosophila...
- The Role of MYST Histone Acetyltransferase in Genome StabilityM Mitchell Smith; Fiscal Year: 2013..Indeed, defects in acetyltransferases are associated with a wide variety of human diseases...
- Photoperiod Brain and BehaviorRandy J Nelson; Fiscal Year: 2012..The evolutionary history of humans suggests that almost all ancestral stocks of Homo sapiens have lived at one time or another in situations where seasonal adjustments in physiology might have proven ..
- Dual-Receptor Targeted Nanoparticles for Photodynamic Therapy of Brain CancerAnn Marie Broome; Fiscal Year: 2013..By applying genetic cell engineering, we will develop model cell lines and animal systems with human EGF and Tf receptors, expressed separately or jointly as viable cancer biomarkers on rat 9L glioma cells...
- Quantitative Assessment of Oxidative Metabolism in Brown FatOtto Muzik; Fiscal Year: 2011..thermogenesis in individuals, and may provide a simple and cost-effective means of monitoring BAT thermogeneis in man. A better understanding of BAT thermogenesis might possibly lead to more effective approaches to weight control in ..
- Shu Man Fu; Fiscal Year: 2015..Over a period of time (years in man), the culmination of these autoreactive T cells occurs, resulting in diverse auto-Ab responses and initial clinical ..
- Bifunctional Redox Catalyst &Organic Nitrate for Limb ReperfusionANDREW LURIE SALZMAN; Fiscal Year: 2013..studies to support application for a first-in-man, dose-escalation, single-dose investigation of IV CM in healthy human volunteers. Genetic toxicology studies will include: the Ames, chromosomal aberration, and rat micronucleus assays...
- Steven F Ziegler; Fiscal Year: 2015..The proposed studies, which investigate TSLP receptor expression and function in mice and man could yield new insight into why some individuals are susceptible to the effects of TSLP while others are not...
- Eric F Johnson; Fiscal Year: 2015..The specific aims of this project focus on the regulation and function of human CYP4A11 and CYP4F2, which oxidize both endobiotic and xenobiotic substrates, and contribute to lipid homeostasis, ..
- Translational Immunology Research and Accelerated [vaccine] Development (TRIAD)ANNE SEARLS DEGROOT; Fiscal Year: 2013..We will ensure payload quality by choosing epitopes that demonstrate antigenicity in human PBMC as well as protection in established murine models of disease/infection...
- Regulations of DNA Alkylation/Deamination Damage RepairRabindra Roy; Fiscal Year: 2013..lesions without catalysis and inhibit MPG activity, and notably, not present in MPG pre-repair complex in the human cells. However, MPG lacking its N-terminal extension is stimulated by APE...
- Joseph Avruch; Fiscal Year: 2016..In both yeast and man TOR functions in two physically distinct and independently regulated complexes;TOR complex 1, which contains the ..
- Genomic profiling of yeast resistance to AFB1, a P450-activated carcinogenMICHAEL THOMAS FASULLO; Fiscal Year: 2013..DESCRIPTION (provided by applicant): Environmental factors are estimated to be the cause of 19% of cancers. However, human susceptibility to environmental carcinogens is highly variable...
- Robert Hal Scofield; Fiscal Year: 2016..DDX3X will be tested as the mediator of the X chromosome dose effect. First, we will define DDX3X levels in human immune cells and mouse tissues...
- Regulation of HBV Replication by the Immune SystemLuca G Guidotti; Fiscal Year: 2012..aspects of HBV pathogenesis, and they may provide new information for future treatments of chronic HBV infection in man. We are also confident that results from this grant application will have far-reaching pathogenetic implications, ..
- C3, CR1, CRRY: INTERACTIONS, HOMEOSTASIS AND TRANSLATIONAL IMPLICATIONSJOHN PATTERSON ATKINSON; Fiscal Year: 2013..of complement receptor type one (CR1;CD35), including analyzing recently identified mutations associated with human disease;and 3) employing a newly generated animal model, the Crry-single knockout (SKO) mouse, and the Crry mouse ..
- STRUCTURE AND EXPRESSION OF THE PARAMYXOVIRUS SV5 GENOMERobert A Lamb; Fiscal Year: 2010..The Paramyxoviridae include mumps virus, human parainfluenza virus type 1 (hPIV1), type 2, type 3, type 5 (also know as simian virus 5 [SV5]), Sendai virus, ..
- Listeria-Based Therapeutic Cancer Vaccine for MelanomaDirk G Brockstedt; Fiscal Year: 2011..antigens NY-ESO-1 and MAGE-A3 as a therapeutic melanoma vaccine and ultimately evaluate the safety and efficacy in human clinical trials. To this end, we propose the following aims: Aim 1...
- Gerald I Shulman; Fiscal Year: 2015..Furthermore, once validated in these animal experiments, these 13C/31P NMR methods will be translated to man to directly assess liver specific rates of hepatic mitochondrial TCA flux, mitochondrial ATP synthesis and hepatic ..
- Role of Oleylethanolamine in the Regulation of the HPT AxisCsaba Fekete; Fiscal Year: 2010..factors that influence the HPT axis, therefore, understanding the central mechanisms by which OEA effects energy expenditure would be essential first steps before embarking upon a drug development program that could be applied to man.
- Pulmonary Vasoreactivity Following Chronic HypoxiaThomas C Resta; Fiscal Year: 2012..S. and is predicted to be the third leading cause of death by 2020 (Sin, D.D. and Man, S.F. Proc Am Thorac Soc 2:8-11, 2005)...
- David Mendelowitz; Fiscal Year: 2016..or mechanical stimulation of the trigeminal nerve evokes a dramatic decrease in heart rate in animals including man, and has often been termed the `trigeminocardiac reflex'in the clinical literature, and `trigeminal depressor ..
- MOLECULAR GENETIC ANALYSIS OF CHLAMYDIA PATHOGENICITYAnthony T Maurelli; Fiscal Year: 2012DESCRIPTION (provided by applicant): Bacteria of the genus Chlamydia are significant pathogens of animals and man. The diseases caused by Chlamydia spp...
- Intervention of Pancreatic Oncogenic Pathways with Dietary TocotrienolMokenge P Malafa; Fiscal Year: 2012..will alter ras signaling pathways leading to an inhibition of proliferation and increase in apoptosis in human pancreatic tumors...
- Developing and Improving the UAB Gnotobiotic Facility.SAMUEL CORBIN CARTNER; Fiscal Year: 2013DESCRIPTION (provided by applicant): A revolution in human microbiology is in progress that will have profound health implications...
- K777 for treatment of Chagas Disease: IND-enabling Studies and IND SubmissionRobert Don; Fiscal Year: 2012..formulation determined, we will perform studies necessary to enable appropriate design of the IND-enabling non-human primate (NHP) 28-day toxicity study, including a pharmacokinetics study, evaluating one IV dose and two oral doses ..
- Douglas E Koshland; Fiscal Year: 2015..Defects in cohesin and cohesin auxiliary factors are the cause of several human disorders and potentially contribute to chromosome instability associated with tumorigenesis...
- Exocytosis and Coupled Endocytosis in Neuroendocrine CellsJOHN DAVID CASTLE; Fiscal Year: 2010..exocytosis of dense-core vesicles (DCVs) is used to secrete hormones and biogenic amines that regulate most of man's internal functions, and endocytosis recycles DCV membranes for reutilization...
- Curtis J Omiecinski; Fiscal Year: 2016..role as a physiological regulator, it is imperative to fully characterize the biological processes directed by the human CAR proteome...
- Stephen M Beverley; Fiscal Year: 2016..transferases and galactosyltransferases involved in synthesis of the phosphoglycan (PG) repeating unit Gal(21,4)Man(11)-PO4- backbone. 3...
- Hermann Steller; Fiscal Year: 2016..basis for developing a novel class of small-molecule cancer therapeutics that are currently being evaluated in human clinical studies, and the results from proposed mouse model studies (aim 2) will have a direct influence on ..
- Lawrence C Sowers; Fiscal Year: 2016..We established that proteins containing methyl-binding domains, as well as the human maintenance methyltransferase DNMT1, do not distinguish these adducts from 5-methylcytosine...
- Chung Owyang; Fiscal Year: 2016..we are seeking to continue and expand the Center with the hope that together the group will approach questions of fundamental importance in the pathophysiology, diagnosis, and treatment of Gl disorders in man.
- Extracellular Scaffold Elasticity and Binding Sites in Acinar DifferentiationMelinda Larsen; Fiscal Year: 2013..A man-made functional saliva-secreting salivary gland construct would greatly increase the quality of life for patients ..
- Nicholas P Cianciotto; Fiscal Year: 2016..The bacterium is ubiquitous in natural and man-made water systems and infects the lungs after the inhalation of contaminated aerosols...
- Young Development of a Novel PET Ligand for Detecting Oxytocin Receptors in BrainLarry J Young; Fiscal Year: 2012..role in regulating social cognition in humans, very little is known regarding the localization of OTR in the human brain or its dysregulation in psychiatric disorders...
- Molecular Modulation of Catalytic Sites of Escherichia coli F1Fo ATP SynthaseZulfiqar Ahmad; Fiscal Year: 2009..A typical 70 kg human with relatively sedentary life style will generate around 2.0 million kg of ATP in a 75-year life span...
- DOSAGE COMPENSATION IN DROSOPHILABruce Baker; Fiscal Year: 1999..elegans reduces the expression of each of the two females X chromosomes, and human dosage compensation is achieved via inactivation of one of the female X-chromosomes...
- FORMATION AND METABOLISM OF NITROSAMINES IN PIGSPeter Magee; Fiscal Year: 1991..The pig resembles man in many aspects of its physiology and is the species of choice as a model for human alcoholi...
- Developing Broadly Neutralizing MAbs for an HIV VaccineYu Geng; Fiscal Year: 2007..The MAb 2G12 recognizes the high mannose glycans on gp120, specifically a cluster of several Manalpha1, 2-Man structures...
- ALDOSTERONE, RENIN AND PROSTAGLANDINS IN MANRichard Horton; Fiscal Year: 1980..Recent work in our laboratory has lead to a validated and accurate PGE immunoassay useful in human urine and blood...
- DESIGN, SYNTHESIS AND STUDY OF IMPD INHIBITORSWayne Anderson; Fiscal Year: 1993..The proposed compounds will be evaluated for antitumor activity in vitro against human tumor cell lines and selected active compounds will be further evaluated in vivo...
- MECHANISMS OF DNA CROSSLINK REPAIR IN HIGHER EUKARYOTESKENNETH BURTIS; Fiscal Year: 1999..This hematological disorder is a candidate for human gene therapy...
- MECHANISTIC STUDIES OF PROKARYOTIC MANNOSYLTRANSFERASESJON THORSON; Fiscal Year: 2002..in the stereochemistry of mannosyltransfer (alpha1 yields 4 or "retaining" versus beta1 yields 4 or "inverting"; Man Talpha4 and Man Tbeta4, respectively)...
- Liver Regeneration in Man--Effects or Adjuvant TherapyYuman Fong; Fiscal Year: 2005..validated in animals as a non-invasive measure of DNA synthesis in the previous grant period will be extended to a human trial...
- Hyperoxaluria Leading to Tubule Injury and Kidney Stone DiseaseNeil Mandel; Fiscal Year: 2004..to produce oxalate crystalluria and tisssue or cell response are criticized as being supraphysiologic compared to man. We propose that the pig is ideal for the development of an animal model of calcium oxalate crystalluria and ..
- VASCULAR/METABOLIC EFFECTS OF REPEAT WEIGHT LOSS/REGAINDIETER KRAMSCH; Fiscal Year: 1992..mortem hard endpoint data on these major public health issues are urgently needed but not likely to be obtained in human studies at present...
- PROPOSED RAT MODEL OF OLIVOPONTOCEREBELLAR ATROPHYCHERYL GUYER; Fiscal Year: 2000..Various animal models (25, 29, 30, 31, 32) mimic human disease...
- THE PHARMACOLOGY OF OMEGA-3 FATTY ACIDSHOWARD KNAPP; Fiscal Year: 1991..of the effect of omega-3 fatty acids have been attributed to changes in eicosanoid production, but few studies in man have measured the in vivo synthesis of these substances and related fish oil-induced alterations to functional ones...
Patents186 found, 100 shown here
- Human nedd-1Patent Number: WO0226818-A2; Date:2002-04-04
- Adipocyte complement related protein zacrp11Patent Number: WO02070704-A2; Date:2002-09-12
- Osteoclastogenesis inhibitory factor, sequence coding for it and usesPatent Number: WO02098908-A2; Date:2002-12-12
- Method for identifying compounds for the therapy of aging of the cardiovascular systemPatent Number: WO03003018-A2; Date:2003-01-09
- Compositions and their uses for gene therapy of bone conditionsPatent Number: WO2007050643-A2; Date:2007-05-03
- Ttk as tumor marker and therapeutic target for lung cancerPatent Number: WO2008072777-A2; Date:2008-06-19
- Diagnostic methods for diseases by screening for hepcidin in human or animal tissues, blood or body fluids, monoclonal antibodies specific to human hepcidin and associated uses thereforPatent Number: WO2008089795-A1; Date:2008-07-31
- Means and methods for haplotyping MHC-DRB loci in mammals and uses thereofPatent Number: EP1980269-A1; Date:2008-10-15
- Single nucleotide polymorphisms predicting cardiovascular disease and medication efficacyPatent Number: EP1978108-A2; Date:2008-10-08
- Method of diagnosing bladder cancerPatent Number: EP2011885-A2; Date:2009-01-07
- Genetic variants on chr 15q24 as markers for use in diagnosis, prognosis and treatment of exfoliation syndrome and glaucomaPatent Number: WO2008152656-A2; Date:2008-12-18
- Identification of new isoforms of the mhc-class i specific receptor cd160 and uses thereofPatent Number: WO2008155363-A2; Date:2008-12-24
- Nucleotide and protein sequences of an antibody directed against an epitope common to human acidic and basic ferritins, monoclonal antibodies or antibody-like molecules comprising these sequences and use thereofPatent Number: WO2009037525-A1; Date:2009-03-26
- Increasing erythropoietin using nucleic acids hybridizable to micro-rna and precursors thereofPatent Number: WO2009045469-A2; Date:2009-04-09
- Brain expressed cap-2 gene and protein associated with bipolar disorderPatent Number: WO03025222-A1; Date:2003-03-27
- Sequences involved in phenomena of tumour suppression, tumour reversion, apoptosis and/or virus resistance and their use as medicinesPatent Number: WO03025175-A2; Date:2003-03-27
- Peptides and protins binding to glu-pro motifs, therapeutical compositions containing them and their applicationsPatent Number: WO03035682-A2; Date:2003-05-01
- Genetic testingPatent Number: WO03093506-A2; Date:2003-11-13
- Novel peptide and screening method using the samePatent Number: WO2001051507-A; Date:2001-07-19
- Method for determining the type of polymorphic genePatent Number: JP2001269198-A; Date:2001-10-02
- Modified TNF-alpha molecules, DNA encoding such modified TNF-alpha molecules, and vaccines containing such modified TNF-alpha molecules or DNAPatent Number: JP2001521386-A; Date:2001-11-06
- Remedies and preventives for dental diseasesPatent Number: WO2001054725-A; Date:2001-08-02
- A polypeptide having a phosphodiesterase activityPatent Number: WO2001066716-A; Date:2001-09-13
- Novel molecule of CARD-associated protein family and utilizationPatent Number: JP2002502590-A; Date:2002-01-29
- DNAs and polypeptides of metalloprotease disintegrins SVPH3-13 and SVPH3-17Patent Number: JP2002503472-A; Date:2002-02-05
- Chitin-binding fragment of chitinasePatent Number: JP2002505882-A; Date:2002-02-26
- Secretory proteins and polynucleotides encoding the samePatent Number: JP2002504488-A; Date:2002-02-12
- Novel SMG-1Patent Number: WO2002095025-A; Date:2002-11-28
- Pharmaceutical composition and method for producing the samePatent Number: WO2002103027-A; Date:2002-12-27
- Humanized LDL receptorPatent Number: JP2002510710-A; Date:2002-04-09
- Human presenilin-associated proteinsPatent Number: JP2002520055-A; Date:2002-07-09
- Human nucleic acid sequence originating in normal uterine tissuePatent Number: JP2002512017-A; Date:2002-04-23
- SLGP protein and nucleic acid molecule and uses thereforPatent Number: JP2002525117-A; Date:2002-08-13
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