exons

Summary

Summary: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or structural RNA.

Top Publications

  1. pmc Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    Ewan Birney
    Nature 447:799-816. 2007
  2. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
  3. pmc Alternative isoform regulation in human tissue transcriptomes
    Eric T Wang
    Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 456:470-6. 2008
  4. doi Mapping and quantifying mammalian transcriptomes by RNA-Seq
    Ali Mortazavi
    Division of Biology, MC 156 29, California Institute of Technology, Pasadena, California 91125, USA
    Nat Methods 5:621-8. 2008
  5. pmc RNA-Seq: a revolutionary tool for transcriptomics
    Zhong Wang
    Department of Molecular, Cellular and Developmental Biology, Yale University, 219 Prospect Street, New Haven, Connecticut 06520, USA
    Nat Rev Genet 10:57-63. 2009
  6. pmc HITS-CLIP yields genome-wide insights into brain alternative RNA processing
    Donny D Licatalosi
    Laboratory of Molecular Neuro Oncology and Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, New York 10021, USA
    Nature 456:464-9. 2008
  7. pmc Analysis and design of RNA sequencing experiments for identifying isoform regulation
    Yarden Katz
    Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology MIT, Cambridge, Massachusetts, USA
    Nat Methods 7:1009-15. 2010
  8. pmc Regulation of alternative splicing by histone modifications
    Reini F Luco
    National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 327:996-1000. 2010
  9. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
  10. pmc The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing
    Eugene V Makeyev
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Mol Cell 27:435-48. 2007

Research Grants

Detail Information

Publications308 found, 100 shown here

  1. pmc Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    Ewan Birney
    Nature 447:799-816. 2007
    ..Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function...
  2. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah 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...
  3. pmc Alternative isoform regulation in human tissue transcriptomes
    Eric T Wang
    Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 456:470-6. 2008
    ....
  4. doi Mapping and quantifying mammalian transcriptomes by RNA-Seq
    Ali Mortazavi
    Division of Biology, MC 156 29, California Institute of Technology, Pasadena, California 91125, USA
    Nat Methods 5:621-8. 2008
    ..Although >90% of uniquely mapped reads fell within known exons, the remaining data suggest new and revised gene models, including changed or additional promoters, exons and 3' ..
  5. pmc RNA-Seq: a revolutionary tool for transcriptomics
    Zhong Wang
    Department of Molecular, Cellular and Developmental Biology, Yale University, 219 Prospect Street, New Haven, Connecticut 06520, USA
    Nat Rev Genet 10:57-63. 2009
    ..This article describes the RNA-Seq approach, the challenges associated with its application, and the advances made so far in characterizing several eukaryote transcriptomes...
  6. pmc HITS-CLIP yields genome-wide insights into brain alternative RNA processing
    Donny D Licatalosi
    Laboratory of Molecular Neuro Oncology and Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, New York 10021, USA
    Nature 456:464-9. 2008
    ..HITS-CLIP, therefore, provides a robust, unbiased means to identify functional protein-RNA interactions in vivo...
  7. pmc Analysis and design of RNA sequencing experiments for identifying isoform regulation
    Yarden Katz
    Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology MIT, Cambridge, Massachusetts, USA
    Nat Methods 7:1009-15. 2010
    ..the mixture-of-isoforms (MISO) model, a statistical model that estimates expression of alternatively spliced exons and isoforms and assesses confidence in these estimates...
  8. pmc Regulation of alternative splicing by histone modifications
    Reini F Luco
    National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 327:996-1000. 2010
    ..Histone marks affect splicing outcome by influencing the recruitment of splicing regulators via a chromatin-binding protein. These results outline an adaptor system for the reading of histone marks by the pre-mRNA splicing machinery...
  9. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  10. pmc The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing
    Eugene V Makeyev
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Mol Cell 27:435-48. 2007
    ..Thus, miR-124 promotes NS development, at least in part by regulating an intricate network of NS-specific alternative splicing...
  11. pmc Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data
    Manhong Dai
    Molecular and Behavioural Neuroscience Institute and Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA
    Nucleic Acids Res 33:e175. 2005
    ..It will be beneficial to re-analyze existing GeneChip data with updated probe set definitions...
  12. doi Systemic administration of PRO051 in Duchenne's muscular dystrophy
    Nathalie M Goemans
    Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium
    N Engl J Med 364:1513-22. 2011
    ..The present phase 1-2a study aimed to assess the safety, pharmacokinetics, and molecular and clinical effects of systemically administered PRO051...
  13. ncbi Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
    M Hutton
    Mayo Clinic Jacksonville, Florida 32224, USA
    Nature 393:702-5. 1998
    ..The increase in exon 10+ messenger RNA will increase the proportion of Tau containing four microtubule-binding repeats, which is consistent with the neuropathology described in several families with FTDP-17...
  14. pmc Differential chromatin marking of introns and expressed exons by H3K36me3
    Paulina Kolasinska-Zwierz
    The Gurdon Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nat Genet 41:376-81. 2009
    ..We also observe a novel pattern: exons are preferentially marked with H3K36me3 relative to introns...
  15. pmc Sex-specific and lineage-specific alternative splicing in primates
    Ran Blekhman
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genome Res 20:180-9. 2010
    ....
  16. pmc Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    Andreas Gnirke
    Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nat Biotechnol 27:182-9. 2009
    ..We tested this method with 170-mer baits that target >15,000 coding exons (2.5 Mb) and four regions (1.7 Mb total) using Illumina sequencing as read-out...
  17. pmc Conservation and divergence of methylation patterning in plants and animals
    Suhua Feng
    Howard Hughes Medical Institute, Department of Molecular, Cell and Developmental Biology, and Institute for Genomics and Proteomics, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 107:8689-94. 2010
    ..Gene body methylation is conserved with clear preference for exons in most organisms. Furthermore, genes appear to be the major target of methylation in Ciona and honey bee...
  18. ncbi A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome
    Marc Sultan
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Science 321:956-60. 2008
    ..Of these, 50% mapped to unique genomic locations, of which 80% corresponded to known exons. We found that 66% of the polyadenylated transcriptome mapped to known genes and 34% to nonannotated genomic ..
  19. ncbi Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    Maria Eriksson
    Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
    Nature 423:293-8. 2003
    ..The discovery of the molecular basis of this disease may shed light on the general phenomenon of human ageing...
  20. doi Alternative splicing and evolution: diversification, exon definition and function
    Hadas Keren
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel
    Nat Rev Genet 11:345-55. 2010
    ....
  21. pmc Genome-wide analysis of PTB-RNA interactions reveals a strategy used by the general splicing repressor to modulate exon inclusion or skipping
    Yuanchao Xue
    Wuhan University, Hubei, China
    Mol Cell 36:996-1006. 2009
    ....
  22. ncbi Messenger-RNA-binding proteins and the messages they carry
    Gideon Dreyfuss
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Nat Rev Mol Cell Biol 3:195-205. 2002
    ..These proteins communicate crucial information to the translation machinery for the surveillance of nonsense mutations and for mRNA localization and translation...
  23. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
    ..WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder...
  24. ncbi Genome-wide insertional mutagenesis of Arabidopsis thaliana
    Jose M Alonso
    Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Science 301:653-7. 2003
    ..Insertion mutations were identified in genes that are regulated in response to the plant hormone ethylene...
  25. pmc Statistical significance for genomewide studies
    John D Storey
    Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 100:9440-5. 2003
    ..Our approach avoids a flood of false positive results, while offering a more liberal criterion than what has been used in genome scans for linkage...
  26. ncbi The sequence of the human genome
    J C Venter
    Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA
    Science 291:1304-51. 2001
    ..Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA...
  27. pmc Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB
    Miriam Llorian
    Department of Biochemistry, University of Cambridge, Cambridge, UK
    Nat Struct Mol Biol 17:1114-23. 2010
    ..The major class of identified PTB-regulated splicing event was PTB-repressed cassette exons, but there was also a substantial number of PTB-activated splicing events...
  28. pmc Ligand-independent androgen receptor variants derived from splicing of cryptic exons signify hormone-refractory prostate cancer
    Rong Hu
    Department of Urology, Oncology, and Pathology, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Cancer Res 69:16-22. 2009
    ..variant transcripts lacking the reading frames for the ligand-binding domain due to splicing of "intronic" cryptic exons to the upstream exons encoding the AR DNA-binding domain...
  29. pmc Comprehensive analysis of CpG islands in human chromosomes 21 and 22
    Daiya Takai
    Department of Biochemistry and Molecular Biology, University of Southern California Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA
    Proc Natl Acad Sci U S A 99:3740-5. 2002
    ..This finding is compatible with the recent detection of 5-methylcytosine in Drosophila, and might suggest that S. cerevisiae has, or once had, CpG methylation...
  30. ncbi Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
    E Buratti
    International Center for Genetic Engineering and Biotechnology ICGEB 34012 Trieste, Italy
    J Biol Chem 276:36337-43. 2001
    ..In particular, the highly conserved Phe residues in the first RRM region play a key role in nucleic acid recognition...
  31. pmc Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls
    Chaolin Zhang
    Laboratory of Molecular Neuro Oncology, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 329:439-43. 2010
    ..Thus, we have developed a general approach to understanding mammalian RNA regulation at the systems level...
  32. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
    ..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
  33. pmc HnRNP proteins controlled by c-Myc deregulate pyruvate kinase mRNA splicing in cancer
    Charles J David
    Department of Biological Sciences, Columbia University, New York, New York 10027, USA
    Nature 463:364-8. 2010
    ..Our results thus define a pathway that regulates an alternative splicing event required for tumour cell proliferation...
  34. ncbi The PIK3CA gene is mutated with high frequency in human breast cancers
    Kurtis E Bachman
    The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Department of Oncology, Baltimore, Maryland 21231, USA
    Cancer Biol Ther 3:772-5. 2004
    ..These results demonstrate that PIK3CA is the most mutated oncogene in breast cancer and support a role for PIK3CA in epithelial carcinogenesis...
  35. pmc PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments
    Mikita Suyama
    European Molecular Biology Laboratory, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Nucleic Acids Res 34:W609-12. 2006
    ..Another distinct feature is that the user can specify a subregion of the input alignment in order to specifically analyze functional domains or exons of interest. The PAL2NAL server is available at http://www.bork.embl.de/pal2nal.
  36. ncbi Mutation of the PIK3CA gene in ovarian and breast cancer
    Ian G Campbell
    VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
    Cancer Res 64:7678-81. 2004
    ..We have screened a total of 284 primary human tumors for mutations in all coding exons of PIK3CA using a combination of single stranded conformational polymorphism and denaturing high-performance ..
  37. pmc Extensive, recent intron gains in Daphnia populations
    Wenli Li
    Biology Department, Indiana University, Bloomington, IN 47405, USA
    Science 326:1260-2. 2009
    ....
  38. pmc Contrasting chromatin organization of CpG islands and exons in the human genome
    Jung Kyoon Choi
    Department of Biology and Brain Engineering, KAIST, 335 Gwahak ro, Daejeon 305 701, Republic of Korea
    Genome Biol 11:R70. 2010
    ..Intragenic nucleosomes and their modifications have been recently associated with RNA splicing. Because the function of intragenic DNA methylation remains unclear, I explored the possibility of its involvement in splicing regulation...
  39. pmc Widespread establishment and regulatory impact of Alu exons in human genes
    Shihao Shen
    Department of Biostatistics, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 108:2837-42. 2011
    The Alu element has been a major source of new exons during primate evolution. Thousands of human genes contain spliced exons derived from Alu elements...
  40. pmc Genome-wide analysis of alternative splicing in Caenorhabditis elegans
    Arun K Ramani
    Banting and Best Department of Medical Research, Donnelly Centre, University of Toronto, Ontario M5S 3E1, Canada
    Genome Res 21:342-8. 2011
    ..elegans to date, and are therefore expected to facilitate focused, high resolution in vivo functional assays of AS function...
  41. pmc Biased chromatin signatures around polyadenylation sites and exons
    Noah Spies
    Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02142, USA
    Mol Cell 36:245-54. 2009
    ..Conversely, exons were associated with distinct peaks in nucleosome density...
  42. pmc ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing
    Claude C Warzecha
    Department of Medicine, Renal Division, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Mol Cell 33:591-601. 2009
    ..isoforms of Fibroblast Growth Factor Receptor 2 (FGFR2) is achieved through tight regulation of mutually exclusive exons IIIb and IIIc, respectively...
  43. doi Alternative splicing and disease
    Jamal Tazi
    University of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France
    Biochim Biophys Acta 1792:14-26. 2009
    ..Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options...
  44. ncbi Identification and characterization of a spinal muscular atrophy-determining gene
    S Lefebvre
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale, Institut Necker, Hopital des Enfants Malades, Paris, France
    Cell 80:155-65. 1995
    ..These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene...
  45. ncbi Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H 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...
  46. pmc Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay
    Isao Kashima
    Department of Molecular Biology, Yokohama City University School of Medicine, Yokohama 236 0004, Japan
    Genes Dev 20:355-67. 2006
    ..Thus, the SMG-1-mediated phosphorylation of Upf1 occurs on the association of SURF with EJC, which provides the link between the EJC and recognition of PTCs and triggers NMD...
  47. ncbi Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    L Mangiarini
    Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, United Kingdom
    Cell 87:493-506. 1996
    ..This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies...
  48. ncbi Cotranscriptional exon skipping in the genotoxic stress response
    Martin Dutertre
    Institut National de Santé et de Recherche Médicale U590, Centre Leon Berard, Lyon, France
    Nat Struct Mol Biol 17:1358-66. 2010
    ..This results in the cotranscriptional skipping of several exons of the MDM2 gene, which encodes the main p53 ubiquitin ligase...
  49. pmc Detecting differential usage of exons from RNA-seq data
    Simon Anders
    European Molecular Biology Laboratory, 69111 Heidelberg, Germany
    Genome Res 22:2008-17. 2012
    ..DEXSeq detects with high sensitivity genes, and in many cases exons, that are subject to differential exon usage...
  50. pmc Global profiling and molecular characterization of alternative splicing events misregulated in lung cancer
    Christine M Misquitta-Ali
    Banting and Best Department of Medical Research, University of Toronto, Donnelly Centre, 160 College Street, Toronto, Ontario, Canada M5S 3E1
    Mol Cell Biol 31:138-50. 2011
    ..Of 5,183 profiled alternative exons, four displayed tumor-associated changes in the majority of the patients...
  51. pmc Analysis of alternative splicing associated with aging and neurodegeneration in the human brain
    James R Tollervey
    MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom
    Genome Res 21:1572-82. 2011
    ..In conclusion, the alternative splicing changes identified in this study provide a new link between aging and neurodegeneration...
  52. ncbi Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
    H Krude
    Department of Pediatrics, Charite, Campus Virchow, Humboldt University Berlin, Germany
    Nat Genet 19:155-7. 1998
    ..These findings represent the first examples of a genetic defect within the POMC gene and define a new monogenic endocrine disorder resulting in early-onset obesity, adrenal insufficiency and red hair pigmentation...
  53. doi Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution
    Brian T Wilhelm
    Cancer Research UK Fission Yeast Functional Genomics Group, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK
    Nature 453:1239-43. 2008
    ..Splicing efficiency was largely coordinated with transcript levels, and increased transcription led to increased splicing in test genes. Hundreds of introns showed such regulated splicing during cellular proliferation or differentiation...
  54. pmc Nucleosomes are well positioned in exons and carry characteristic histone modifications
    Robin Andersson
    The Linnaeus Centre for Bioinformatics, Uppsala University, Sweden
    Genome Res 19:1732-41. 2009
    ..Using public data, we here show that there is a higher nucleosome-positioning signal in internal human exons and that this positioning is independent of expression...
  55. doi Global analysis of nascent RNA reveals transcriptional pausing in terminal exons
    Fernando Carrillo Oesterreich
    Max Planck Institute of Molecular Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany
    Mol Cell 40:571-81. 2010
    ..Indeed, splicing catalysis is expected to occur posttranscriptionally in yeast, where the shortness of terminal exons should leave insufficient time for splicing. Here, we isolate endogenous S...
  56. pmc The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism
    Cynthia V Clower
    Division of Signal Transduction, Department of Systems Biology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 107:1894-9. 2010
    ..isozymes are expressed from a single gene through alternative splicing of a pair of mutually exclusive exons. We measured the expression of M1 and M2 mRNA and protein isoforms in mouse tissues, tumor cell lines, and during ..
  57. pmc The transcription factor nerve growth factor-inducible protein a mediates epigenetic programming: altering epigenetic marks by immediate-early genes
    Ian C G Weaver
    Douglas Hospital Research Center, Montreal, Quebec, Canada H4H 1R3
    J Neurosci 27:1756-68. 2007
    ..The data are consistent with the hypothesis that NGFI-A participates in epigenetic programming of GR expression...
  58. ncbi Local dystrophin restoration with antisense oligonucleotide PRO051
    Judith C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 357:2677-86. 2007
    ..We explored the safety, adverse-event profile, and local dystrophin-restoring effect of a single, intramuscular dose of an antisense oligonucleotide, PRO051, in patients with this disease...
  59. ncbi Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
    J T den Dunnen
    MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands corrected
    Hum Mutat 15:7-12. 2000
    ..In this article, suggestions are presented for reporting just such complex mutations...
  60. ncbi Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells
    Matthew C Lorincz
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Nat Struct Mol Biol 11:1068-75. 2004
    ..As the methylated region adopts a closed chromatin structure in vivo, we propose that dense intragenic DNA methylation in mammalian cells initiates formation of a chromatin structure that reduces the efficiency of Pol II elongation...
  61. ncbi The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
    Shivendra Kishore
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, 91054 Erlangen, Germany
    Science 311:230-2. 2006
    ..Our results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome...
  62. ncbi The Hdh(Q150/Q150) knock-in mouse model of HD and the R6/2 exon 1 model develop comparable and widespread molecular phenotypes
    Ben Woodman
    Department of Medical and Molecular Genetics, King s College London School of Medicine, London, UK
    Brain Res Bull 72:83-97. 2007
    ..This supports the continued use of the more high-throughput fragment models to identify mechanisms of pathogenesis and for preclinical screening...
  63. doi Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
    Marjolijn J L Ligtenberg
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 41:112-7. 2009
    ..from Dutch and Chinese families with MSH2-deficient tumors carrying heterozygous germline deletions of the last exons of TACSTD1, a gene directly upstream of MSH2 encoding Ep-CAM...
  64. ncbi Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    T Kitada
    Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    Nature 392:605-8. 1998
    ..The gene spans more than 500 kilobases and has 12 exons, five of which (exons 3-7) are deleted in the patient...
  65. ncbi The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla
    Olivier Jaillon
    Genoscope CEA and UMR 8030 CNRS Genoscope Université d Evry, 2 rue Gaston Cremieux, BP5706, 91057 Evry, France
    Nature 449:463-7. 2007
    ..Furthermore, we explain the chronology of previously described whole-genome duplication events in the evolution of flowering plants...
  66. pmc Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq
    Iouri Chepelev
    Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA
    Nucleic Acids Res 37:e106. 2009
    ..single nucleotide variations (SNVs) are found in protein-coding regions, we propose to identify SNVs in expressed exons of the human genome using the recently developed RNA-Seq technique...
  67. pmc Birthweight is associated with DNA promoter methylation of the glucocorticoid receptor in human placenta
    Amanda C Filiberto
    Department of Pathology and Laboratory Medicine, Brown University, Providence, RI, USA
    Epigenetics 6:566-72. 2011
    ..Our work is one of the first to link infant growth as a measure of the intrauterine environment and epigenetic alterations to the GR and suggests that DNA methylation may be a critical determinant of placental function...
  68. pmc Expression of pro- and anti-angiogenic isoforms of VEGF is differentially regulated by splicing and growth factors
    Dawid G Nowak
    Microvascular Research Laboratories, Bristol Heart Institute, Department of Physiology and Pharmacology, School of Veterinary Sciences, University of Bristol, Southwell Street, Bristol BS2 8EJ, UK
    J Cell Sci 121:3487-95. 2008
    ....
  69. ncbi Splicing in disease: disruption of the splicing code and the decoding machinery
    Guey Shin Wang
    Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Rev Genet 8:749-61. 2007
    ..An unexpectedly large fraction of exonic mutations exhibit a primary pathogenic effect on splicing. Furthermore, normal genetic variation significantly contributes to disease severity and susceptibility by affecting splicing efficiency...
  70. pmc Transcribed dark matter: meaning or myth?
    Chris P Ponting
    MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK
    Hum Mol Genet 19:R162-8. 2010
    ..greatly improved annotations of protein-coding genes, but have also identified transcription outside of annotated exons. One resultant issue that has aroused dispute is the balance of transcription of known exons against transcription ..
  71. ncbi Ultraconserved elements in the human genome
    Gill Bejerano
    Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA
    Science 304:1321-5. 2004
    ..These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and ..
  72. ncbi A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    Chloe James
    INSERM U362, Institut Gustave Roussy, Paris XI University, PR1, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France
    Nature 434:1144-8. 2005
    ..As this mutation is also found in other myeloproliferative disorders, this unique mutation will permit a new molecular classification of these disorders and novel therapeutical approaches...
  73. pmc Origins of recently gained introns in Caenorhabditis
    Avril Coghlan
    Department of Genetics, Smurfit Institute, University of Dublin, Trinity College, Dublin 2, Ireland
    Proc Natl Acad Sci U S A 101:11362-7. 2004
    ..All of these similarities involve minisatellites or palindromes in the intron sequences. Our results suggest that at least some of the intron gains were caused by reverse splicing of a preexisting intron...
  74. pmc AltAnalyze and DomainGraph: analyzing and visualizing exon expression data
    Dorothea Emig
    Max Planck Institute for Informatics, 66123 Saarbrucken, Germany
    Nucleic Acids Res 38:W755-62. 2010
    ..Our programs are available at http://www.altanalyze.org and http://www.domaingraph.de. These websites also include extensive documentation, tutorials and sample data...
  75. pmc Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
    Nara L M Sobreira
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    PLoS Genet 6:e1000991. 2010
    ..This combination of a new technology and a classical genetic approach provides a powerful strategy to discover the genes responsible for unexplained Mendelian disorders...
  76. ncbi Structure of PTB bound to RNA: specific binding and implications for splicing regulation
    Florian C Oberstrass
    Institute for Molecular Biology and Biophysics, Department of Biology, Swiss Federal Institute of Technology, Zurich, ETH Honggerberg, CH 8093 Zurich, Switzerland
    Science 309:2054-7. 2005
    ..binding protein involved in multiple aspects of messenger RNA metabolism, including the repression of alternative exons. We have determined the solution structures of the four RNA binding domains (RBDs) of PTB, each bound to a CUCUCU ..
  77. ncbi A slow RNA polymerase II affects alternative splicing in vivo
    Manuel De la Mata
    Laboratorio de Fisiologia y Biologia Molecular, Departamento de Fisiologia, Biologia Molecular y Celular, IFIBYNE CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellon 2, Buenos Aires, Argentina
    Mol Cell 12:525-32. 2003
    ..These results provide a direct proof for the elongation control of alternative splicing in vivo...
  78. ncbi Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
    Thai H Ho
    Department of Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Cell Sci 118:2923-33. 2005
    ..We also find an immobile fraction of GFP-MBNL1 in DM1 fibroblasts and a similar rapid exchange in endogenous CUG RNA foci. Therefore, formation of RNA foci and disruption of MBNL1-regulated splicing are separable events...
  79. pmc Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease
    Christian Landles
    Department Medical and Molecular Genetics, King s College London School of Medicine, King s College London, London SE1 9RT, United Kingdom
    J Biol Chem 285:8808-23. 2010
    ..This methodology can be used to validate the inhibition of specific proteases as therapeutic targets for HD by pharmacological or genetic approaches...
  80. doi Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively parallel short-read sequencing
    Ryan Morin
    Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
    Biotechniques 45:81-94. 2008
    ..of mRNA and individual exon abundance while simultaneously profiling the prevalence of both annotated and novel exons and exon-splicing events...
  81. pmc Co-transcriptional splicing of constitutive and alternative exons
    Amy Pandya-Jones
    Department of Microbiology, Immunology and Molecular Genetics, University of California at Los Angeles, Los Angeles, California 90095, USA
    RNA 15:1896-908. 2009
    ..Using a quantitative RT-PCR assay, we show that the majority of introns separating constitutive exons are already excised from the human c-Src and fibronectin pre-mRNAs that are still in the process of synthesis, and ..
  82. pmc An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons
    Ji Ann Lee
    Department of Microbiology, Immunology, and Molecular Genetics, University of California at Los Angeles, Los Angeles, California 90095, USA
    Genes Dev 23:2284-93. 2009
    Neuronal depolarization and CaM kinase IV signaling alter the splicing of multiple exons in transcripts for ion channels, neurotransmitter receptors, and other synaptic proteins...
  83. pmc A phylogeny of caenorhabditis reveals frequent loss of introns during nematode evolution
    Soochin Cho
    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48864, USA
    Genome Res 14:1207-20. 2004
    ..The small size of C. elegans introns should increase the rate at which each of these types of loss can occur, and might account for the dramatic difference in loss rate between nematodes and mammals...
  84. ncbi TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
    Emanuele Buratti
    International Centre for Genetic Engineering and Biotechnology, Trieste, Italy
    J Biol Chem 280:37572-84. 2005
    ..Finally, through splicing complex analysis, we show that splicing inhibition mediated by TDP-43 occurs at the earliest stages of spliceosomal assembly...
  85. doi A sensitive method for detecting EGFR mutations in non-small cell lung cancer samples with few tumor cells
    Miguel A Molina-Vila
    Catalan Institute of Oncology, Medical Oncology Service, Hosptial Germans Trias i Pujol, Badalona, Spain
    J Thorac Oncol 3:1224-35. 2008
    ..However, the number of tumor cells in a sample is often insufficient for EGFR assessment...
  86. pmc Chromatin density and splicing destiny: on the cross-talk between chromatin structure and splicing
    Schraga Schwartz
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel
    EMBO J 29:1629-36. 2010
    ..In this review we discuss evidence for the coupling between transcription and splicing, focusing on recent findings suggesting a link between chromatin structure and splicing, and highlighting challenges this emerging field is facing...
  87. pmc A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family
    Wei Wang
    Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China
    Mol Vis 16:534-9. 2010
    ..To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts...
  88. doi Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
    Peter M Krawitz
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 42:827-9. 2010
    ..We identified homozygous or compound heterozygous mutations in PIGV in three additional families...
  89. pmc Assessment of EGFR mutation status in lung adenocarcinoma by immunohistochemistry using antibodies specific to the two major forms of mutant EGFR
    Marie Brevet
    Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
    J Mol Diagn 12:169-76. 2010
    ..IHC with EGFR mutant-specific antibodies could be used as a screen to identify most candidates for EGFR inhibitors...
  90. pmc Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing
    Anna Wetterbom
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, SE 751 85 Uppsala, Sweden
    Genome Biol 11:R78. 2010
    ..We profile the chimpanzee transcriptome by using deep sequencing of cDNA from brain and liver, aiming to quantify expression of known genes and to identify novel transcribed regions...
  91. pmc Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
    Sarah B Pierce
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:282-8. 2010
    ....
  92. pmc Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    Jan P Schouten
    MRC Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands
    Nucleic Acids Res 30:e57. 2002
    ..Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences...
  93. pmc In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse
    Yoshitsugu Aoki
    Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Mol Ther 18:1995-2005. 2010
    ..In-frame deletions of the hinge 3 region of the dystrophin protein, which is encoded by exons 50 and 51, are predicted to cause a variety of phenotypes...
  94. doi TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China
    Brain 133:3510-8. 2010
    ....
  95. ncbi Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
    L A Donehower
    Division of Molecular Virology, Baylor College of Medicine, Houston, Texas 77030
    Nature 356:215-21. 1992
    ....
  96. pmc A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes
    Kevin B Jones
    Department of Orthopaedics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 107:2054-9. 2010
    ..These results explain prior modeling failures with the necessity for somatic LOH in a developmentally regulated cell type...
  97. pmc Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer
    Supriya Sen
    Medical Research Service, Veterans Affairs San Diego Healthcare System, San Diego, California, USA
    J Biol Chem 285:25426-37. 2010
    ..Collectively, these findings demonstrate a role for Mbnl1 in controlling insulin receptor exon 11 inclusion via binding to a downstream intronic enhancer element...
  98. pmc Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes
    Katherine Elena Varley
    Department of Genetics, Center for Genome Sciences, Washington University School of Medicine, St Louis, Missouri 63108, USA
    Genome Res 18:1844-50. 2008
    ..In our pilot study, we amplified exons from colon cancer and matched normal human genomic DNA...
  99. ncbi Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
    S W Davies
    Department of Anatomy and Developmental Biology, University College London, United Kingdom
    Cell 90:537-48. 1997
    ..The appearance in transgenic mice of these inclusions, followed by characteristic morphological change within neuronal nuclei, is strikingly similar to nuclear abnormalities observed in biopsy material from HD patients...
  100. pmc A novel DNMT3B splice variant expressed in tumor and pluripotent cells modulates genomic DNA methylation patterns and displays altered DNA binding
    Suhasni Gopalakrishnan
    Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, Florida, USA
    Mol Cancer Res 7:1622-34. 2009
    ..Taken together, these results show that DNMT3B3Delta5 may play an important role in stem cell maintenance or differentiation and suggest that sequences encoded by exon 5 influence the functional properties of DNMT3B...

Research Grants87

  1. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2004
    ..multiplex ligation-dependent probe amplification (MLPA) techniques to detect deletions and duplications in all 79 exons of the dystrophin gene...
  2. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2007
    ..multiplex ligation-dependent probe amplification (MLPA) techniques to detect deletions and duplications in all 79 exons of the dystrophin gene...
  3. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2005
    ..multiplex ligation-dependent probe amplification (MLPA) techniques to detect deletions and duplications in all 79 exons of the dystrophin gene...
  4. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2006
    ..multiplex ligation-dependent probe amplification (MLPA) techniques to detect deletions and duplications in all 79 exons of the dystrophin gene...
  5. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2010
    ..where the spliceosome processes pre-mRNA transcripts by removing introns (non-coding regions) and splicing the exons (coding regions) together to form a mature mRNA transcript...
  6. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    ..where the spliceosome processes pre-mRNA transcripts by removing introns (non-coding regions) and splicing the exons (coding regions) together to form a mature mRNA transcript...
  7. A Haplotype Map for Multiple Sclerosis
    Stephen L Hauser; Fiscal Year: 2010
    ..In Specific Aim 3 we intend to generate high-coverage sequence information for the regulatory regions, exons and flanking regions of genes with unequivocal evidence of association for the discovery of rare variants ..
  8. Mutations detection and classification in ADPKD
    Sandro Rossetti; Fiscal Year: 2010
    ..by Sanger method of the PKD1 and PKD2 genes uses a large number of amplicons, and it is focused around the coding exons and close intronic regions...
  9. HLA and schizophrenia: a high-throughput sequencing study
    DOUGLAS FREDERICK LEVINSON; Fiscal Year: 2012
    ..The entire targeted block of almost all exons and introns in 11 HLA genes in 8 loci (A, B, C, DRB1/3/4/5, DQA1, DQB1, DPA1, DPB1) will be amplified by long-..
  10. Treatment for Dysmyelination in PMD and SPG2
    Pamela E Knapp; Fiscal Year: 2012
    ..The most severe forms of PMD are associated with missense mutations in introns or exons of the PLP1 gene. Interestingly, complete gene deletion results in a milder neurologic impairment...
  11. CELLULAR MECHANISMS IN THE INDUCTION OF AROMATASE
    CAROLE MENDELSON; Fiscal Year: 2006
    ..of aromatase in each of these tissues is controlled by unique promoters that lie upstream of tissue-specific first exons that are alternatively spliced onto a common site in exon II...
  12. CELLULAR MECHANISMS IN THE INDUCTION OF AROMATASE
    CAROLE MENDELSON; Fiscal Year: 2005
    ..of aromatase in each of these tissues is controlled by unique promoters that lie upstream of tissue-specific first exons that are alternatively spliced onto a common site in exon II...
  13. CELLULAR MECHANISMS IN THE INDUCTION OF AROMATASE
    CAROLE MENDELSON; Fiscal Year: 2007
    ..of aromatase in each of these tissues is controlled by unique promoters that lie upstream of tissue-specific first exons that are alternatively spliced onto a common site in exon II...
  14. CELLULAR MECHANISMS IN THE INDUCTION OF AROMATASE
    CAROLE MENDELSON; Fiscal Year: 2009
    ..of aromatase in each of these tissues is controlled by unique promoters that lie upstream of tissue-specific first exons that are alternatively spliced onto a common site in exon II...
  15. BIOCHEMISTRY OF PRE-MRNA SPLICING
    ADRIAN KRAINER; Fiscal Year: 2007
    Pre-mRNA splicing is an essential step in gene expression. It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein synthesis in the ..
  16. BIOCHEMISTRY OF PRE-MRNA SPLICING
    ADRIAN KRAINER; Fiscal Year: 2009
    ..It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein synthesis in the ..
  17. SMOOTH MUSCLE MYOSIN PHOSPHATASE SUBUNIT ISOFORMS
    Steven Fisher; Fiscal Year: 2006
    ..isoforms are generated by tissue-specific and developmentally regulated cassette-type alternative splicing of exons. We hypothesized that regulated expression of MYPT isoforms determines smooth muscle phenotype-specific responses ..
  18. SMOOTH MUSCLE MYOSIN PHOSPHATASE SUBUNIT ISOFORMS
    Steven Fisher; Fiscal Year: 2005
    ..isoforms are generated by tissue-specific and developmentally regulated cassette-type alternative splicing of exons. We hypothesized that regulated expression of MYPT isoforms determines smooth muscle phenotype-specific responses ..
  19. SMOOTH MUSCLE MYOSIN PHOSPHATASE SUBUNIT ISOFORMS
    Steven Fisher; Fiscal Year: 2007
    ..isoforms are generated by tissue-specific and developmentally regulated cassette-type alternative splicing of exons. We hypothesized that regulated expression of MYPT isoforms determines smooth muscle phenotype-specific responses ..
  20. DEGRADATION OF OPIOID PEPTIDES
    Louis Hersh; Fiscal Year: 1999
    ..neprilysin mRNAs which differ in their 5' untranslated sequence, and are generated from different non-coding exons utilizing different promoters...
  21. DEGRADATION OF OPIOID PEPTIDES
    Louis Hersh; Fiscal Year: 2000
    ..neprilysin mRNAs which differ in their 5' untranslated sequence, and are generated from different non-coding exons utilizing different promoters...
  22. Tissue Factor Pathway Inhibitor Binding Proteins on Endo
    ALAN MAST; Fiscal Year: 2004
    ..Recombinant TFPI lacking the first two, non-translated, exons appears to be entirely secreted into the culture medium...
  23. Tissue Factor Pathway Inhibitor Binding Proteins on Endo
    ALAN MAST; Fiscal Year: 2004
    ..Recombinant TFPI lacking the first two, non-translated, exons appears to be entirely secreted into the culture medium...
  24. Tissue Factor Pathway Inhibitor Binding Proteins on Endo
    ALAN MAST; Fiscal Year: 2005
    ..Recombinant TFPI lacking the first two, non-translated, exons appears to be entirely secreted into the culture medium...
  25. TYPE III COLLAGEN GENE EXPRESSION IN CARTILAGE
    SHERRILL ADAMS; Fiscal Year: 1993
    ..The 3' half of this unique RNA is similar or identical to the authentic type III collagen mRNA. However, exons 1 and 2, as well as additional exons, appear to be missing from the 5' portion of the RNA...
  26. Tissue Factor Pathway Inhibitor Binding Proteins on Endo
    ALAN MAST; Fiscal Year: 2002
    ..Recombinant TFPI lacking the first two, non-translated, exons appears to be entirely secreted into the culture medium...
  27. Tissue Factor Pathway Inhibitor Binding Proteins on Endo
    ALAN MAST; Fiscal Year: 2003
    ..Recombinant TFPI lacking the first two, non-translated, exons appears to be entirely secreted into the culture medium...
  28. DNA REARRANGEMENTS IN MOMULV-INDUCED THYMOMAS
    Philip Tsichlis; Fiscal Year: 1993
    ..Tpl-2 spans a 35 kb genomic DNA region and contains eight exons. During tumor progression provirus insertion occurs in the last intron and in the same transcriptional orientation ..
  29. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
    ..It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein synthesis in the ..
  30. DNA Repair Defects in IgA Deficiency
    REUBEN HARRIS; Fiscal Year: 2009
    ..CSR) and it occurs between two so-called switch region sequences that reside upstream of the respective exons that encode the constant region of the antibody heavy chain...
  31. The Role of Germline Mutation and Parental Age in Autism Spectrum Disorders
    Jonathan Sebat; Fiscal Year: 2012
    ..It is likely that other classes of de novo mutation (DNM), in exons and in non-coding regions, contribute to ASD...
  32. GENETICS OF PARKINSONISM
    Jeffery Marvin Vance; Fiscal Year: 2010
    ..It also uses a whole exome capture approach (180K exons) with NGS to identify M in six extended pedigree families with PD...
  33. Alternative Splicing of the Insulin Receptor Gene
    NICHOLAS J WEBSTER; Fiscal Year: 2011
    ..rise to multiple mRNAs resulting from differential promoters, termination sequences, or the use of alternative exons. Although often depicted as sequential steps, transcription and splicing are now thought to occur simultaneously, ..
  34. GENETICS OF PARKINSONISM
    Jeffery Marvin Vance; Fiscal Year: 2011
    ..It also uses a whole exome capture approach (180K exons) with NGS to identify M in six extended pedigree families with PD...
  35. GENETICS OF PARKINSONISM
    Jeffery Marvin Vance; Fiscal Year: 2010
    ..It also uses a whole exome capture approach (180K exons) with NGS to identify M in six extended pedigree families with PD...
  36. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the ..
  37. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2006
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the ..
  38. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2007
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the ..
  39. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the ..
  40. Genetic hearing screening for newborns
    Xi Lin; Fiscal Year: 2009
    ..This STTR project will test and validate the core technology for a low-cost approach to efficiently capture exons of deafness genes and its suitability for coupling with the massively-parallel sequencing system for the detection ..
  41. Identification of Enhancers of Therapeutic Exon Skipping for DMD
    MELISSA JAN SPENCER; Fiscal Year: 2010
    ..Most of the mutations in DMD result from DNA deletions between exons 44-55...
  42. Identification of Enhancers of Therapeutic Exon Skipping for DMD
    M Miceli; Fiscal Year: 2009
    ..Most of the mutations in DMD result from DNA deletions between exons 44-55...
  43. Polymorphism affecting water balance
    David M Cohen; Fiscal Year: 2011
    ..Although we strongly suspect that this is the case, based upon our sequencing of all coding exons and splice junctions in this block, a robust conclusion requires phasing the entire haplotype block...
  44. INHERITED DISORDER OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 1992
    ..form with activity toward phenolic substrates (P-UGT) are expressed from one locus consisting of a series of exons encoding the unique NH2 terminal regions of these UGTs and four exons encoding their identical COOH-terminal ..
  45. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 1999
    ..form with activity toward phenolic substrates (P-UGT) are expressed from one locus consisting of a series of exons encoding the unique NH2 terminal regions of these UGTs and four exons encoding their identical COOH-terminal ..
  46. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2000
    ..form with activity toward phenolic substrates (P-UGT) are expressed from one locus consisting of a series of exons encoding the unique NH2 terminal regions of these UGTs and four exons encoding their identical COOH-terminal ..
  47. Transcriptional elongation and splicing in human genes in situ
    Richard A Padgett; Fiscal Year: 2010
    ..For RNA splicing, very large introns present the problem of identifying the correct splice sites and exons in spite of a background of similar "decoy" sequences present within the introns...
  48. The contribution of common and rare variants to autoimmunity in African Americans
    Jorge R Oksenberg; Fiscal Year: 2011
    ..research: In Specific Aim 1 we will generate and analyze high-coverage sequence information (regulatory regions, exons, and exon-flanking regions) for genes with strong evidence of association in representative African American MS ..
  49. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2002
    ..Both are associated with mutations in the dystrophin gene, a huge gene with 79 exons spread over 2.4 million bases of genomic sequence...
  50. Neuronal-Specific Splicing of CaV1.2 L-type Calcium Channels
    Kristin Webster; Fiscal Year: 2012
    ..The N- terminus of CaV1.2 is encoded by alternative first exons;exon 1a (e1a) is the cardiac isoform and exon1b (e1b) has a broad expression pattern and is the only isoform ..
  51. The Mammalian Cellular Splicing Machine - Structure and Function
    Ruth Sperling; Fiscal Year: 2009
    ..contain non-coding sequences (introns) that must be removed in order to accurately place the coding sequences (exons) in the correct reading frame...
  52. The Mammalian Cellular Splicing Machine - Structure and Function
    Ruth Sperling; Fiscal Year: 2010
    ..contain non-coding sequences (introns) that must be removed in order to accurately place the coding sequences (exons) in the correct reading frame...
  53. EPITHELIAL OXALATE AND CITRATE TRANSPORT
    DAVID BRUCE MOUNT; Fiscal Year: 2011
    ..To clarify the role of Slc26a6 in the proximal tubule we will generate mice in Aim 2 with loxP sites flanking exons 5-7 of the Slc26a6 gene ("floxed mice"), for cell type-specific deletion of these exons...
  54. Comprehensive Mutational Analysis of the Cancer Genome
    Dennis Ballinger; Fiscal Year: 2004
    ..utility of this approach, we propose in this Phase I application to analyze at single base resolution all coding exons from chromosomes 1p, 6, 15, and 18 (approximately 16% of the genome), in each of 12 CRC genomes...
  55. Isolation of a cervical cancer tumor suppressor gene
    Eri Srivatsan; Fiscal Year: 2009
    ..Examination of the three exons of cystatin E/M in 19 primary tumors and 21 normal tissues revealed homozygous deletion of exon 1 in one tumor...
  56. Nuclear Function of Abl in DNA Damage Response
    Jean Y J Wang; Fiscal Year: 2010
    ..approximately twenty thousand genes but encodes many more proteins through the alternative usage of variable exons. Alternative splicing has been shown to generate pro-death and anti-death protein isoforms from a single gene, ..
  57. Nuclear Function of Abl in DNA Damage Response
    Jean Wang; Fiscal Year: 2009
    ..approximately twenty thousand genes but encodes many more proteins through the alternative usage of variable exons. Alternative splicing has been shown to generate pro-death and anti-death protein isoforms from a single gene, ..
  58. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 2009
    ..two related disorders that are caused by heterozygous, inactivating mutations in one of the thirteen GNAS1 exons encoding Gsa...
  59. Intravenous Protein Therapy for Myotonic Dystrophy Type 1
    DUSTIN ARMSTRONG; Fiscal Year: 2009
    ..DMPK mRNA avidly binds, sequesters and inactivates the MBNL1 protein, an mRNA splicing factor that removes fetal exons from mRNA templates (9- 13)...
  60. DISSECTION OF THE FUNCTIONS OF HERPES SIMPLEX VIRUS ICPO
    Bernard Roizman; Fiscal Year: 2003
    ..ICP0 is encoded by 3 exons. ICP0 is encoded by 3 exons...
  61. Exploring functions of mu opioid receptor carboxyl termini by gene targeting
    Ying Xian Pan; Fiscal Year: 2010
    ..3'splicing, defined by splicing from exons 1/2/3 to alternative exons downstream of exon 3 (3'exons), generates 15 different carboxyl terminal variants ..
  62. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel Schoenberg; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): In erythroid cells a premature termination codon (PTC) in exons 1 or 2 of the beta-globin gene activates a cytoplasmic endonuclease that degrades beta-globin mRNA...
  63. The Catalytic Mechanism of Nuclear Premessenger RNA Splicing by the Spliceosome
    Jonathan P Staley; Fiscal Year: 2010
    ..of the liberated 5'exon attacks the 3'splice site, excising the intron and ligating the flanking exons. The RNA components of the spliceosome have been implicated in both recognizing introns and catalyzing intron ..
  64. POSTTRANSCRIPTIONAL REGULATION OF ANGIOTENSIN RECEPTORS
    Kathryn Sandberg; Fiscal Year: 2009
    ..These transcripts are comprised of exons 1 and 3 (El,3) and exons 1, 2 and 3 (El,2,3)...
  65. Mechanisms for the Transition to Castrate Resistant Prostate Cancer
    Stephen Plymate; Fiscal Year: 2009
    ..The specific variants we describe in the Work Accomplished have deletions of exons 5, 6, and 7 (AR del 5, 6, 7) or exons 5 and 6 (AR del 5, 6)...
  66. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2002
    ..is remarkably efficient and rapid, an amazing feat considering that the signals that delineate introns from exons are not conserved in higher eukaryotes...
  67. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2003
    ..is remarkably efficient and rapid, an amazing feat considering that the signals that delineate introns from exons are not conserved in higher eukaryotes...
  68. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2004
    ..is remarkably efficient and rapid, an amazing feat considering that the signals that delineate introns from exons are not conserved in higher eukaryotes...
  69. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2005
    ..is remarkably efficient and rapid, an amazing feat considering that the signals that delineate introns from exons are not conserved in higher eukaryotes...
  70. CELLULAR MECHANISMS IN THE INDUCTION OF AROMATASE
    CAROLE MENDELSON; Fiscal Year: 1999
    ..The gene encoding human P450 is>75kb in size; the region encoding the P450 protein is contained within 9 exons (II-X)...
  71. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2002
    ..The predominant transcript, -2.3kb, contains two exons, the second of which is disrupted by the insertion...
  72. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2001
    ..The predominant transcript, -2.3kb, contains two exons, the second of which is disrupted by the insertion...
  73. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2004
    ..The predominant transcript, -2.3kb, contains two exons, the second of which is disrupted by the insertion...
  74. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2005
    ..The predominant transcript, -2.3kb, contains two exons, the second of which is disrupted by the insertion...
  75. CONTROL OF CALCITONIN GENE EXPRESSION
    Robert Gagel; Fiscal Year: 1992
    ..C-cells, the primary transcript is processed by polyadenylation after the 4th exon with constitutive splicing of exons 1 through 4...
  76. Analyses of a Non tumorigenic Teratocarcinoma Cell Line
    Paulette McCormick; Fiscal Year: 2003
    ..The predominant transcript, -2.3kb, contains two exons, the second of which is disrupted by the insertion...
  77. GENETICS AND MOLECULAR BIOLOGY OF MYOSIN
    SANFORD BERNSTEIN; Fiscal Year: 1991
    ..Alternative splicing of the RNA coding regions (exons) from this gene may lead to the production of up to 384 alternative forms (isoforms) of the MHC protein...
  78. GENETICS AND MOLECULAR BIOLOGY OF MYOSIN
    SANFORD BERNSTEIN; Fiscal Year: 1992
    ..Alternative splicing of the RNA coding regions (exons) from this gene may lead to the production of up to 384 alternative forms (isoforms) of the MHC protein...
  79. GENETICS AND MOLECULAR BIOLOGY OF MYOSIN
    SANFORD BERNSTEIN; Fiscal Year: 1993
    ..Alternative splicing of the RNA coding regions (exons) from this gene may lead to the production of up to 384 alternative forms (isoforms) of the MHC protein...
  80. GENETICS AND MOLECULAR BIOLOGY OF MYOSIN
    SANFORD BERNSTEIN; Fiscal Year: 1990
    ..Alternative splicing of the RNA coding regions (exons) from this gene may lead to the production of up to 384 alternative forms (isoforms) of the MHC protein...
  81. DISSECTION OF THE FUNCTIONS OF HERPES SIMPLEX VIRUS ICPO
    Bernard Roizman; Fiscal Year: 2004
    ..ICP0 is encoded by 3 exons. ICP0 is encoded by 3 exons...
  82. Intravenous Protein Therapy for Myotonic Dystrophy Type 1
    Richard Weisbart; Fiscal Year: 2010
    ..DMPK mRNA avidly binds, sequesters and inactivates the MBNL1 protein, an mRNA splicing factor that removes fetal exons from mRNA templates (9- 13)...
  83. DISSECTION OF THE FUNCTIONS OF HERPES SIMPLEX VIRUS ICPO
    Bernard Roizman; Fiscal Year: 2007
    ..ICP0 is encoded by 3 exons. ICP0 is encoded by 3 exons...
  84. DISSECTION OF THE FUNCTIONS OF HERPES SIMPLEX VIRUS ICPO
    Bernard Roizman; Fiscal Year: 2005
    ..ICP0 is encoded by 3 exons. ICP0 is encoded by 3 exons...
  85. DISSECTION OF THE FUNCTIONS OF HERPES SIMPLEX VIRUS ICPO
    Bernard Roizman; Fiscal Year: 2006
    ..ICP0 is encoded by 3 exons. ICP0 is encoded by 3 exons...