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Scientists discover molecular defects associated with rare genetic disorder in children
Damien D Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.
Onset of symptoms occurs in the first few months after birth in infants suffering from Lung disease Immunodeficiency and Chromosome breakage (LIC). Typically, patients experience failure to thrive and immune deficiency, which can eventually progress to fatal pediatric pulmonary disease in early childhood. The disease is caused by small inactivating mutations in NSMCE3, a gene encoding an essential factor found in the nucleus of human cells.
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IMAGE: By modelling the mutations causing the LIC syndrome in the system, this showed that the mutations affect ability of the Smc5/6 complex to repair chromosomes in cells, thus explaining how. view more
Credit: D Amours Lab/University of Ottawa
Damien D Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.
Onset of symptoms occurs in the first few months after birth in infants suffering from Lung disease Immunodeficiency and Chromosome breakage (LIC). Typically, patients experience failure to thrive and immune deficiency, which can eventually progress to fatal pediatric pulmonary disease in early childhood. The disease is caused by small inactivating mutations in NSMCE3, a gene encoding an essential factor found in the nucle