کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9107591 | 1153943 | 2005 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Filamin A: phenotypic diversity
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی تکاملی
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چکیده انگلیسی
Filamins cross-link the actin cytoskeleton into orthogonal networks and modulate the response of cells to their chemical and mechanical environment by regulating changes in shape and motility. Null mutations in FLNA, the gene that encodes filamin A, lead to defects in neuronal migration, vascular function and connective tissue integrity. By contrast, missense mutations in this same gene produce a spectrum of malformations in multiple organ systems, especially the skeleton. The production of such distinctly different phenotypes from loss- and gain-of-function mechanisms provokes questions as to how a ubiquitously expressed structural protein can subserve crucial but discrete roles during development in many organ systems.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Current Opinion in Genetics & Development - Volume 15, Issue 3, June 2005, Pages 301-307
Journal: Current Opinion in Genetics & Development - Volume 15, Issue 3, June 2005, Pages 301-307
نویسندگان
Stephen P Robertson,