55 research outputs found

    Essential role of stress hormone signaling in cardiomyocytes for the prevention of heart disease

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    Stress is increasingly associated with heart disease. Glucocorticoids are primary stress hormones, yet their direct role in the heart is poorly understood. Mice lacking the glucocorticoid receptor specifically in cardiomyocytes die prematurely from heart failure. The deficiency in glucocorticoid signaling leads to the aberrant regulation of a large cohort of genes strongly associated with both cardiovascular and inflammatory disease processes. These findings reveal an obligate role for cardiomyocyte glucocorticoid receptors in maintaining normal heart function and define a paradigm for stress in cardiovascular disease

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    Complete achromatopsia associated with skeletal anomalies: A new autosomal recessive syndrome

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    Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode

    Complete achromatopsia associated with skeletal anomalies: A new autosomal recessive syndrome

    No full text
    Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode
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