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  1. Article: Complex genetics of amyotrophic lateral sclerosis.

    Kunst, Catherine B

    American journal of human genetics

    2004  Volume 75, Issue 6, Page(s) 933–947

    MeSH term(s) Amino Acid Transport System X-AG/metabolism ; Amyotrophic Lateral Sclerosis/classification ; Amyotrophic Lateral Sclerosis/drug therapy ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/physiopathology ; Animals ; Apolipoproteins E/metabolism ; Ciliary Neurotrophic Factor/metabolism ; Disease Models, Animal ; Gene Expression Regulation ; Humans ; Mice ; Neurofilament Proteins/genetics ; Receptors, Glutamate/metabolism ; Riluzole/therapeutic use ; Superoxide Dismutase/genetics ; Superoxide Dismutase/metabolism ; Superoxide Dismutase-1 ; Vascular Endothelial Growth Factor A/genetics ; Vascular Endothelial Growth Factor A/metabolism
    Chemical Substances Amino Acid Transport System X-AG ; Apolipoproteins E ; Ciliary Neurotrophic Factor ; Neurofilament Proteins ; Receptors, Glutamate ; SOD1 protein, human ; Vascular Endothelial Growth Factor A ; neurofilament protein H (108688-71-7) ; Riluzole (7LJ087RS6F) ; Sod1 protein, mouse (EC 1.15.1.1) ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
    Language English
    Publishing date 2004-10-11
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/426001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Tuberculosis microepidemics among dispersed migrants, Birmingham, UK, 2004-2013.

    Munang, Melinda L / Browne, Catherine / Khanom, Shaina / Evans, Jason T / Smith, E Grace / Hawkey, Peter M / Kunst, Heinke / Welch, Steven B / Dedicoat, Martin J

    Emerging infectious diseases

    2015  Volume 21, Issue 3, Page(s) 524–527

    Abstract: To determine if local transmission was responsible for rising tuberculosis incidence in a recently dispersed migrant community in Birmingham, UK, during 2004-2013, we conducted enhanced epidemiologic investigation of molecular clusters. This technique ... ...

    Abstract To determine if local transmission was responsible for rising tuberculosis incidence in a recently dispersed migrant community in Birmingham, UK, during 2004-2013, we conducted enhanced epidemiologic investigation of molecular clusters. This technique identified exact locations of social mixing and chains of apparent recent transmission, which can be helpful for directing resources.
    MeSH term(s) Cluster Analysis ; DNA, Bacterial ; Genetic Loci ; Humans ; Incidence ; Minisatellite Repeats ; Mycobacterium tuberculosis/classification ; Mycobacterium tuberculosis/genetics ; Risk Factors ; Sentinel Surveillance ; Transients and Migrants ; Tuberculosis/epidemiology ; Tuberculosis/transmission ; United Kingdom/epidemiology
    Chemical Substances DNA, Bacterial
    Language English
    Publishing date 2015-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1380686-5
    ISSN 1080-6059 ; 1080-6040
    ISSN (online) 1080-6059
    ISSN 1080-6040
    DOI 10.3201/eid2103.140209
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: a window of opportunity in the search for genetic modifiers.

    Heiman-Patterson, Terry D / Sher, Roger B / Blankenhorn, Elizabeth A / Alexander, Guillermo / Deitch, Jeffrey S / Kunst, Catherine B / Maragakis, Nicholas / Cox, Gregory

    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases

    2011  Volume 12, Issue 2, Page(s) 79–86

    Abstract: Transgenic (Tg) mouse models of FALS containing mutant human SOD1 genes (G37R, G85R, D90A, or G93A missense mutations or truncated SOD1) exhibit progressive neurodegeneration of the motor system that bears a striking resemblance to ALS, both clinically ... ...

    Abstract Transgenic (Tg) mouse models of FALS containing mutant human SOD1 genes (G37R, G85R, D90A, or G93A missense mutations or truncated SOD1) exhibit progressive neurodegeneration of the motor system that bears a striking resemblance to ALS, both clinically and pathologically. The most utilized and best characterized Tg mice are the G93A mutant hSOD1 (Tg(hSOD1-G93A)1GUR mice), abbreviated G93A. In this review we highlight what is known about background-dependent differences in disease phenotype in transgenic mice that carry mutated human or mouse SOD1. Expression of G93A-hSOD1Tg in congenic lines with ALR, NOD.Rag1KO, SJL or C3H backgrounds show a more severe phenotype than in the mixed (B6xSJL) hSOD1Tg mice, whereas a milder phenotype is observed in B6, B10, BALB/c and DBA inbred lines. We hypothesize that the background differences are due to disease-modifying genes. Identification of modifier genes can highlight intracellular pathways already suspected to be involved in motor neuron degeneration; it may also point to new pathways and processes that have not yet been considered. Most importantly, identified modifier genes provide new targets for the development of therapies.
    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Amyotrophic Lateral Sclerosis/physiopathology ; Animals ; Disease Models, Animal ; Drug Design ; Female ; Genotype ; Humans ; Male ; Mice ; Mice, Transgenic ; Nerve Degeneration/genetics ; Nerve Degeneration/pathology ; Phenotype ; Protein Isoforms/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1 ; Survival Rate
    Chemical Substances Protein Isoforms ; SOD1 protein, human ; Sod1 protein, mouse (EC 1.15.1.1) ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
    Language English
    Publishing date 2011-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2264792-2
    ISSN 1471-180X ; 1743-4483 ; 1466-0822 ; 1748-2968 ; 1743-4475
    ISSN (online) 1471-180X ; 1743-4483
    ISSN 1466-0822 ; 1748-2968 ; 1743-4475
    DOI 10.3109/17482968.2010.550626
    Database MEDical Literature Analysis and Retrieval System OnLINE

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