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  1. Article ; Online: A Promoter Deletion Confirms That

    Hayesmoore, Jesse B G / Bowman, Michael / Shannon, Nora / Blair, Edward / Watkins, Hugh / Thomson, Kate L

    Circulation. Genomic and precision medicine

    2024  Volume 17, Issue 1, Page(s) e004134

    MeSH term(s) Humans ; Cardiomyopathy, Hypertrophic/genetics ; Haploinsufficiency ; Myocardium
    Chemical Substances myosin-binding protein C
    Language English
    Publishing date 2024-01-23
    Publishing country United States
    Document type Journal Article
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.123.004134
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Reevaluation of the South Asian

    Harper, Andrew R / Bowman, Michael / Hayesmoore, Jesse B G / Sage, Helen / Salatino, Silvia / Blair, Edward / Campbell, Carolyn / Currie, Bethany / Goel, Anuj / McGuire, Karen / Ormondroyd, Elizabeth / Sergeant, Kate / Waring, Adam / Woodley, Jessica / Kramer, Christopher M / Neubauer, Stefan / Farrall, Martin / Watkins, Hugh / Thomson, Kate L

    Circulation. Genomic and precision medicine

    2020  Volume 13, Issue 3, Page(s) e002783

    Abstract: Background: The common intronic deletion, : Methods: Sequence data from 2 HCM cohorts (n=5393) was analyzed to determine : Results: Our data suggest that the risk of HCM, previously attributed to : Conclusions: ... ...

    Abstract Background: The common intronic deletion,
    Methods: Sequence data from 2 HCM cohorts (n=5393) was analyzed to determine
    Results: Our data suggest that the risk of HCM, previously attributed to
    Conclusions: The
    MeSH term(s) Adult ; Aged ; Asia ; Asian Continental Ancestry Group/genetics ; Base Sequence ; Cardiomyopathy, Hypertrophic/ethnology ; Cardiomyopathy, Hypertrophic/genetics ; Carrier Proteins/genetics ; Case-Control Studies ; Female ; Haplotypes ; Humans ; Introns ; Male ; Middle Aged ; Risk Factors ; Sequence Deletion
    Chemical Substances Carrier Proteins ; myosin-binding protein C
    Language English
    Publishing date 2020-03-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.119.002783
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The effect of age and the H1c MAPT haplotype on MAPT expression in human brain.

    Hayesmoore, Jesse B G / Bray, Nicholas J / Cross, William C / Owen, Michael J / O'Donovan, Michael C / Morris, Huw R

    Neurobiology of aging

    2008  Volume 30, Issue 10, Page(s) 1652–1656

    Abstract: The MAPT H1c haplotype is a risk factor for the neurodegenerative tauopathies progressive supranuclear palsy (PSP) and Alzheimer's disease. We hypothesise that the effect of the H1c haplotype relates to an increase in MAPT expression leading to an ... ...

    Abstract The MAPT H1c haplotype is a risk factor for the neurodegenerative tauopathies progressive supranuclear palsy (PSP) and Alzheimer's disease. We hypothesise that the effect of the H1c haplotype relates to an increase in MAPT expression leading to an increase in tau neurofibrillary tangle deposition. We have evaluated the effect of the MAPT H1c haplotype on the expression of MAPT using allele specific expression, comparing the relative levels of MAPT H1 and H2 RNA derived from post-mortem human brain, unaffected by neurodegenerative disease. Using three assays spanning the MAPT gene we did not detect any effect of H1c on MAPT expression as compared with other haplotypes. We did, however, detect an effect of age on expression of MAPT H1 with a relative decrease in MAPT H1 expression with increased age. Our data suggest that there is an interaction between age and the expression of MAPT.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Aging ; Brain/metabolism ; Gene Expression ; Gene Frequency ; Haplotypes ; Humans ; Longevity/genetics ; Middle Aged ; Polymorphism, Single Nucleotide ; RNA, Messenger ; Young Adult ; tau Proteins/genetics ; tau Proteins/metabolism
    Chemical Substances MAPT protein, human ; RNA, Messenger ; tau Proteins
    Language English
    Publishing date 2008-02-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2007.12.017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1685: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 10: Show issues

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  4. Article ; Online: Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

    Thomson, Kate L / Ormondroyd, Elizabeth / Harper, Andrew R / Dent, Tim / McGuire, Karen / Baksi, John / Blair, Edward / Brennan, Paul / Buchan, Rachel / Bueser, Teofila / Campbell, Carolyn / Carr-White, Gerald / Cook, Stuart / Daniels, Matthew / Deevi, Sri V V / Goodship, Judith / Hayesmoore, Jesse B G / Henderson, Alex / Lamb, Teresa /
    Prasad, Sanjay / Rayner-Matthews, Paula / Robert, Leema / Sneddon, Linda / Stark, Hannah / Walsh, Roddy / Ware, James S / Farrall, Martin / Watkins, Hugh C

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 21, Issue 7, Page(s) 1576–1584

    Abstract: Purpose: Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing ...

    Abstract Purpose: Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing 51 additional genes for hypertrophic cardiomyopathy (HCM), one of the most commonly tested Mendelian disorders.
    Methods: Using genome sequencing data from 240 sarcomere gene negative HCM cases and 6229 controls, we undertook case-control and individual variant analyses to assess 51 genes that have been proposed for HCM testing.
    Results: We found no evidence to suggest that rare variants in these genes are prevalent causes of HCM. One variant, in a single case, was categorized as likely to be pathogenic. Over 99% of variants were classified as a variant of uncertain significance (VUS) and 54% of cases had one or more VUS.
    Conclusion: For almost all genes, the gene-disease relationship could not be validated and lack of evidence precluded variant interpretation. Thus, the incremental diagnostic yield of extending testing was negligible, and would, we propose, be outweighed by problems that arise with a high rate of uninterpretable findings. These findings highlight the need for rigorous, evidence-based selection of genes for clinical test panels.
    MeSH term(s) Adolescent ; Adult ; Aged ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/pathology ; Case-Control Studies ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Sarcomeres ; Whole Genome Sequencing ; Young Adult
    Language English
    Publishing date 2018-12-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-018-0375-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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