Gene lamin a
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Lamins are major structural components of the nuclear envelope in multi-cellular eukaryotes. Particularly A-type lamins are also located in the nucleoplasm, likely involving a specific binding partner, lamina-associated polypeptide 2a (LAP2a). LAP2a–lamins A⁄C complexes in the nucleo-plasm have been implicated in the regulation of gene expression by various means.
12p galaxyss3 21-03-2013 35 2 Download
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The inner face of the nuclear envelope of metazoan cells is covered by a thin lamina consisting of a one-layered network of intermediate filaments inter-connecting with a complex set of transmembrane proteins and chromatin associating factors. The constituent proteins, the lamins, have recently gained tremendous recognition, because mutations in the lamin A gene,
8p galaxyss3 21-03-2013 32 3 Download
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Tm7sf2gene encodes 3b-hydroxysterol D 14 -reductase (C14SR, DHCR14), an endoplasmic reticulum enzyme acting onD 14 -unsaturated sterol interme-diates during the conversion of lanosterol to cholesterol. The C-terminal domain of lamin B receptor, a protein of the inner nuclear membrane mainly involved in heterochromatin organization, also possesses sterol D 14 -reductase activity.
14p vinaphone15 28-02-2013 37 4 Download
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Phenotypic Heterogeneity Phenotypic heterogeneity occurs when more than one phenotype is caused by allelic mutations (e.g., different mutations in the same gene) (Table 62-4). For example, laminopathies are monogenic multisystem disorders that result from mutations in the LMNA gene, which encodes the nuclear lamins A and C. Twelve autosomal dominant and four autosomal recessive disorders are caused by mutations in the LMNA gene.
5p konheokonmummim 03-12-2010 46 4 Download
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Hai nhà khoa học Đại học Brunel, tây London (Anh) đã làm sáng tỏ bí ẩn về một hiện tượng hiếm gặp căn bệnh lão hóa ở trẻ, còn gọi là Progeria. Năm ngoái, người ta biết rằng, thủ phạm là một đột biến ở gene Lamin A, song không rõ cơ chế hoạt động của nó. Giải mã hiện tượng già trước tuổi Một cậu bé bị bệnh lão hóa trước tuổi.
6p heoxinhkute5 16-11-2010 107 9 Download