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dOCRL maintains immune cell quiescence by regulating endosomal traffic.
PLoS Genet
October 2017
Rosenstiel Basic Medical Sciences Research Center, Department of Biology, Brandeis University, Waltham, Massachusetts, United States of America.
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL. OCRL plays diverse roles in endocytic and endolysosomal trafficking, cytokinesis, and ciliogenesis, but it is unclear which of these cellular functions underlie specific patient symptoms. Here, we show that mutation of Drosophila OCRL causes cell-autonomous activation of hemocytes, which are macrophage-like cells of the innate immune system.
View Article and Find Full Text PDFHeimler's syndrome: a close mimic of Bart-Pumphrey syndrome.
Int J Dermatol
March 2016
Private practice, Richmond VA 23229, USA.
Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.
Clin Dysmorphol
January 2003
Department of Pediatrics, University of Oklahoma, Oklahoma, USA.
We report a pair of siblings who exhibit findings similar to those described in Heimler's syndrome, namely sensori- neural hearing loss diagnosed after the first year of life and enamel hypoplasia with normal primary dentition. Nail findings of Beau's lines and leukonychia which were described in the previous cases are absent to questionable in our patients. Our findings support the theory of autosomal recessive inheritance for Heimler's syndrome.
View Article and Find Full Text PDFAIDS and social work treatment: a single-system analysis.
Health Soc Work
May 1991
Prelude Counselling Consultants, Calgary, Alberta, Canada.
This article reports on an exploratory study that examined the efficacy of a social work intervention for people with acquired immune deficiency syndrome (AIDS) and AIDS-related complex. The intervention was based on Heimler's Human Social Functioning theory and method. A single-system design was used to analyze change due to intervention, and two instruments were used to collect data across the phases.
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