Histone code pathway involving H3 S28 phosphorylation and K27 acetylation activates transcription and antagonizes polycomb silencing. (41/78)

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A 6-year-old girl with hemoglobin H disease. (42/78)

Hemoglobin H (HbH) disease is the severe nonfatal form of alpha-thalassemia syndrome. It is usually caused by molecular defects of 3 of 4 alpha-globin genes (--/-alpha) which cause alpha-globin expression to be decreased. HbH disease is rare in Japan. Here, we report on a 6-year-old girl with HbH disease who had profound hypochromatic and microcytic anemia. Analysis of the alpha-globin genes of the patient's family showed that the father, who was Japanese, had an abnormal gene with a 3.7-kb deletion (-alpha(3.7)/alphaalpha), and the mother, who was Filipino, had a deletion removing both alpha-globin genes of the Filipino type (--(FIL)/alphaalpha). Neither parent had anemia. The patient was found to have HbH disease with a heterozygous genetic abnormality (--(FIL)/-alpha(3.7)). Recently, the number of marriages of Japanese to natives of areas where thalassemia is epidemic has increased. Therefore, the incidence of HbH disease can be expected to increase in Japan. Long-term follow-up will be needed to evaluate the long-term complications and to improve the quality of life of patients with HbH disease.  (+info)

An RNA-protein complex links enhanced nuclear 3' processing with cytoplasmic mRNA stabilization. (43/78)

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Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. (44/78)

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Hb Lake Tapawingo [alpha46(CE4)Phe-->Ser; HBA2:c.140T>C]: a new unstable alpha chain hemoglobin variant associated with low systemic arterial saturation. (45/78)

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Conversion events in gene clusters. (46/78)

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Upregulation of hemoglobin expression by oxidative stress in hepatocytes and its implication in nonalcoholic steatohepatitis. (47/78)

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Mechanisms of endonuclease-mediated mRNA decay. (48/78)

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