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  • Deciphering genetic disease in the genomic era : the model of GnRH deficiency
    Sykiotis, Gerasimos P. ...
    Isolated gonadotropin-releasing hormone (GnRH) deficiency is a treatable albeit rare form of reproductive failure that has revealed physiological mechanisms controlling human reproduction, but ... despite substantial progress indiscovering pathogenic single-gene defects, most of the genetic basis of GnRH deficiency remains uncharted. Although unbiased genetic investigations ofaffected families have identified mutations in previously unsuspected genesas causes of this disease in some cases, their application has been severely limited because of the negative effect of GnRH deficiency on fertility; moreover, relatively few of the many candidate genes nominated because of biological plausibility from in vitro or animal model experiments were subsequently validated in patients. With the advent of exciting technological platforms for sequencing, homozygosity mapping, and detection of structural variation at the whole-genome level, human investigations are again assuming the leading role for gene discovery. Using human GnRH deficiency as a paradigm and presenting original data from the screening of numerous candidate genes, we discuss the emerging model of patient-focused clinical genetic research and its complementarities with basic approaches in the near future.
    Vir: Science translational medicine. - ISSN 1946-6234 (Letn. 2, št. 32, 2010, str. 1-10)
    Vrsta gradiva - članek, sestavni del
    Leto - 2010
    Jezik - angleški
    COBISS.SI-ID - 27646937

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