40 research outputs found
Ecoepidemiology of Cutaneous Leishmaniasis Outbreak, Israel
Get PDFA total of 161 cases of cutaneous leishmaniasis caused by Leishmania tropica occurred in the Jerusalem district during 2004ā2005; 127 (79%) cases were in a town just outside Jerusalem. Environmental models suggest that in the context of global warming, this outbreak has the potential to extend into Jerusalem
Hemophagocytic syndrome occurred in a patient with subcutaneous panniculitis-like T-cell lymphoma without overt skin lesion: Successful treatment with steroid pulse therapy
No full textAn āeruptiveā variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis
No full textLangerhans cell histiocytosis in an adult: good response of cutaneous lesions to acitretin
No full textTrends in the epidemiology of cutaneous leishmaniasis in a young adult population in Israel: a long-term survey
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Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis
Get PDFSingle-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction
