Wiskott-Aldrich syndrome proteins in the nucleus: aWASH with possibilities

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Wiskott-Aldrich syndrome proteins in the nucleus: aWASH with possibilities

Actin and proteins that regulate its dynamics or interactions have well-established roles in the cytoplasm where they function as key components of the cytoskeleton to control diverse processes, including cellular infrastructure, cellular motility, cell signaling, and vesicle transport. Recent work has also uncovered roles for actin and its regulatory proteins in the nucleus, primarily in mecha...

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[The Wiskott-Aldrich syndrome].

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Wiskott-Aldrich syndrome with macrothrombocytopenia.

BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...

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Human immunology is entering the next frontier. With the fast developing technology, we can today sequence the whole genome from an individual in a relatively short time. It is now possible to decipher pathological mechanisms in immunological diseases, including primary immunodeficiencies, with high specificity. A particularly interesting aspect to study is the development and maintenance of th...

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ژورنال

عنوان ژورنال: Nucleus

سال: 2015

ISSN: 1949-1034,1949-1042

DOI: 10.1080/19491034.2015.1086051