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  • 17th International Mouse Genome Conference (2003)
    Sanger Institute and MRC Institute of Hearing Research Co Authors 2 R Libby 2 R Holme 2 T Self 3 W Marcotti 4 D Williams and 3 C Kros Institutions 2 MRC Institute of Hearing Research 3 School of Biological Sciences 4 Department of Neurosciences UCSD School of Medicine People with the most severe form of Usher syndrome have deafness and balance problems from birth and develop progressive retinitis pigmentosa during the first decade of life At least eleven genes can be involved in Usher syndrome and several of these have been identified following discovery of the mouse orthologue We have examined mice with mutations in two of these genes Myo7a and Cdh23 Both show primary defects of the stereocilia bundle projecting from the top of sensory hair cells in the inner ear This bundle normally forms a neat V shaped array on cochlear hair cells but in the mutants the array becomes progressively more disorganised during development Electrophysiological recordings from single Myo7a mutant hair cells together with the known localisation of Myo7a protein just below the cell membrane covering the stereocilia suggest that Myo7a serves to anchor the cell membrane to the actin core and loss of this anchoring

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file4.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    New Bolton Centre Co Authors 1 Karin Hübner 2 Guy Fuhrmann 3 Lane K Christenson 1 James Kehler 1 Rolland Reinbold 4 Rabindranath De La Fuente 3 Jennifer Wood 3 Jerome Strauss III and 1 Michele Boiani Institutions 1 Germline Development Group Center for Animal Transgenesis and Germ Cell Research The School of Veterinary Medicine University of Pennsylvania New Bolton Center 2 Centre de Neurochimie 3 Center for Research on Reproduction and Women s Health and 4 Female Germ Cell Biology Group In the early mammalian embryo the germline and soma are indistinguishable from each other In the mouse germ cell competence is induced at embryonic day 6 5 in proximal epiblast cells by signals emanating from the extra embryonic ectoderm Even during the specification period precursor cells give rise to primordial germ cells and certain somatic cells such as extra embryonic mesoderm and allantois The potential of embryonic stem ES cells to generate all lineages of the embryo in vivo has been widely reported in the literature in striking contrast to the lack of data describing the derivation of germ cells from ES cells in vitro We attributed the inability to demonstrate the derivation of germ cells from ES

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file5.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    FOR MOUSE PHENOTYPING Mark Henkelman Hospital for Sick Children Co Authors XJ Chen JG Sled JF Cargill G Hamarneh N Kovacevic L Baghdadi FS Foster Y Q Zhou J Bishop N Bock B Nieman JR Walls LM Davidson J Dazai N Lifshitz C McKerlie SL Adamson J Rossant Institutions Hospital for Sick Children Modern medical imaging holds great potential for phenotyping of mice Magnetic resonance MR imaging at high magnetic fields provides excellent three dimensional anatomical maps 60 m 3 isotropic resolution in mice Ultrasound US at 20 55 MHz provides real time imaging with 30 100 m resolution which is suitable for cardiac structural and hemodynamic flow X ray computed tomography CT does not scale well to the size of a mouse but is ideal for bone development and highly contrasted vascular architecture at 20 m resolution For small samples 1 cm an optical analogue of CT designated optical projection tomography OPT has been developed by James Sharpe HGU Edinburgh which can use the wide spectrum of optical chromophores to give 3D spatial maps of gene expression in the embryo or excised organs Several examples of the use of imaging for mouse phenotyping will be presented 1 a heritable

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file6.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    immune sensing in mammals depends largely upon a collection of molecules known as the Toll like receptors TLRs which bind specific molecular components of microbes and initiate a host response A spontaneous mutation affecting the Lps locus in mice and positionally identified in our laboratory as a mutation in Tlr4 first revealed the sensing function of the TLRs and we have since ENU to disrupt additional molecular components of the TLR signaling apparatus monitoring macrophage responses to diverse microbial inducers Of twelve TLRs encoded in the mouse genome LPS TLR3 senses dsRNA while TLR4 senses LPS Lps2 a mutation identified in an F3 germline mutant was shown to disrupt responses mediated by both receptors The mutation was positionally identified in Trif a gene encoding one of five adapter proteins for TLR signal transduction Trif Lps2 impairs responses to both viral and bacterial pathogens Moreover the mutation revealed that there are two branches of the LPS signaling pathway which depend upon a total of four of the adapter proteins While the Trif Lps2 allele produced on the C57BL 6 background permitted dsRNA induced upregulation of costimulatory molecules for antigen presentation the Trif θ allele produced on a 129 strain background did

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file7.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    HRS GENETIC DISSECTION OF IMMUNITY TO INFECTION THE HUMAN MODEL Jean Laurent Casanova Laboratory of Human Genetics of Infectious Diseases Université René Descartes INSERM U550 Necker Medical School Co Authors Laurent Abel Institutions Laboratory of Human Genetics of Infectious Diseases Université René Descartes INSERM U550 Necker Medical School Humans are exposed to a variety of poorly virulent micro organisms Only a minority of infected individuals develop clinical disease The interindividual variability of clinical outcome is thought to result in part from variability in the human genes that control host defense In this well defined microbiological and clinical context the principles of mouse immunology and the methods of human genetics can be combined to facilitate the genetic dissection of immunity to infection in humans The natural infections are unique to the human model not being found in any of the animal models of experimental infection We will review current genetic knowledge concerning the simple and complex inheritance of predisposition to infectious diseases in humans Rare patients with Mendelian disorders have been found to be vulnerable to environmental microbes Most cases of presumed Mendelian susceptibility to these remain unexplained In the general population common infectious diseases have been shown to be associated

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file8.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    TO STUDY FOLATE ASSOCIATED PATHOLOGIES Patrick Stover Cornell University Nutritional and genetic epidemiological studies indicate strong associations between disruption of folate metabolism induced by vitamin deficiency and or penetrant SNPs and risk for pathologies and developmental anomalies including neural tube defects and cancers The molecular mechanism s that account for folate pathology associations are unknown and animal models developed to date have not advanced our understanding Folate metabolism is necessary for the synthesis of nucleotides purines and dTMP and S adenosylmethionine and thereby influences both DNA methylation density and uracil content Both DNA uracil content and methylation density affect DNA stability and DNA methylation also regulates the expression of many genes It is not known if the associations between folate and pathology risk result from altered SAM synthesis and or dTMP synthesis We have demonstrated that the enzyme cytoplasmic serine hydroxymethyltransferase cSHMT is a metabolic switch that directs the flux of folate activated one carbon units between dTMP and SAM biosynthetic pathways and is expressed in tissues that are associated with folate related pathologies The expression of cSHMT is dynamically regulated by several nutrients including iron ferritin and therefore the cSHMT mediated metabolic switch is likely involved in the etiology

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file9.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    increasing flow of high throughput gene expression protein interaction and genome sequence data researchers gradually approach a system level understanding of cells and even multi cellular organisms Systems biology is an emerging field that enables us to achieve in depth understanding at the system level 1 For this we need to establish methodologies and techniques that enable us to understand biological systems as systems which means to understand 1 the structure of the system such as gene metabolic signal transduction networks and physical structures 2 the dynamics of such systems 3 methods to control systems and 4 methods to design and modify systems to generate desired properties From technical point of view there are serious needs for standard open software that enables exchange of models and analysis results as well as share modules for modeling and analysis Systems Biology Markup Language SBML and Systems Biology Workbench SBW are initiatives to achieve open standard software platform for systems biology http www sbml org 2 4 SBML Level 1 has been released and used in numbers of software SBML Level 2 specification is now finalized and started drafting SBML Level 3 SBW version 1 1 is now released with a range of modules for modeling and analysis On scientific front understanding robustness of biological systems and find a way to control such systems are the major theme in systems biology Robustness is manifested as ability to adapt to environmental perturbations insensitivities against internal parameter changes and graceful degradation It emerges from certain system level properties such as 1 feedback control 2 redundancy 3 modularity and 4 structural stability In depth understanding of this property at various levels provides far reaching impacts to understanding of biological systems as well as possible applications to drug discovery 5 1 Kitano H Systems biology a brief

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file10.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    for Biotechnology Information Co Authors 2 Bailey J A 1 Agarwala R 2 Eichler E E Institutions 1 National Center for Biotechnology Information 2 Case Western Reserve University School of Medicine The mouse genome allows us a unique opportunity to assess Whole Genome Shotgun WGS and hierarchical clone based assemblies One difficulty in assembling mammalian genomes is the presence of segmental duplications A WGS assembly of the mouse MGSCv3 has been available for over a year Greater than 95 of the mouse genome is also available as HTGS BAC based sequence Based on data from January 27 2003 we attempted to integrate 0 736 Gb of finished sequence into the MGSCv3 NCBI Build 30 58 of the 4740 finished BACs used in Build 30 could not be integrated Of these 20 BACs were unplaced because of a chromosome assignment conflict and 38 BACs were unplaced because of an alignment conflicts Utilizing published methods Bailey et al 2001 Bailey et al 2002 we assessed the level of duplication in the MGSCv3 and in the finished sequence from Build 29 Only duplications 10kb at 90 identity were considered Strikingly the level of duplication in the MGSCv3 was well below the level of

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file11.shtml (2016-02-17)
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