نتایج جستجو برای: hermansky
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The Rockefeller University Press $30.00 J. Cell Biol. Vol. 209 No. 4 563–577 www.jcb.org/cgi/doi/10.1083/jcb.201410026 JCB 563 *M.K. Dennis and A.R. Mantegazza contributed equally to this paper. **M.S. Marks and S.R.G. Setty contributed equally to this paper. Correspondence to Michael S. Marks: [email protected] Abbreviations used in this paper: AF488, Alexa Fluor 488; AP-3, adaptor pro...
Assays measuring platelet aggregation (thrombus formation) at arterial shear rate mostly use collagen as only platelet-adhesive surface. Here we report a multi-surface and multi-parameter flow assay to characterize thrombus formation in whole blood from healthy subjects and patients with platelet function deficiencies. A systematic comparison is made of 52 adhesive surfaces with components acti...
SPEECH Hynek Hermansky, Carlos Avendano and Eric A. Wan Oregon Graduate Institute of Science & Technology Department of Electrical Engineering and Applied Physics P.O. Box 91000, Portland, OR 97291 ABSTRACT Finite Impulse Response (FIR) Wiener-like lters designed on training data are applied to time trajectories of cubic-root compressed short-term power spectrum of noisy speech recorded over ce...
To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...
INTRODUCTION Oculocutaneous albinism (OCA) in combination with a platelet function defect caused by a disturbed release reaction from platelet δ-granules (storage pool defect - SPD) is typical for the autosomal recessive inherited Hermansky-Pudlak syndrome (HPS). CASE REPORT A girl (age: 13 years) with OCA was hospitalized with transfusion-requiring menorrhagia. The suspicion of HPS was confi...
IMPORTANCE Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pulmonary fibrosis and granulomatous colitis. The granulomatous inflammation in the bowel of patients with HPS can be indistinguishable clinically and histologically from that of Crohn disease (CD); however, mucocutaneous granulomatous lesions...
Flash visual evoked potentials (F. VEPs) and electroretinograms (ERGs) were recorded in a total of 20 young children with albinism (age range 5 months to 11 years, mean 4 years). All recordings were made without sedation. There were 13 oculocutaneous cases (one with Hermansky-Pudlak syndrome) and seven ocular albinos. Monocular flash stimulation commonly elicited an asymmetrical occipital VEP d...
Hermansky-Pudlak syndrome 6 protein (HPS6) has originally been identified as a subunit of the BLOC-2 protein complex that is involved in the biogenesis of lysosome-related organelles. Here, we demonstrate that HPS6 directly interacts with the dynactin p150(Glued) subunit of the dynein-dynactin motor complex and acts as cargo adaptor for the retrograde motor to mediate the transport of lysosomes...
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