دورية أكاديمية
Altered gene silencing and human diseases.
| العنوان: | Altered gene silencing and human diseases. |
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| المؤلفون: | PERINI, GIOVANNI, Tupler R. |
| المساهمون: | Perini G, Tupler R. |
| سنة النشر: | 2006 |
| المجموعة: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| مصطلحات موضوعية: | CHROMATIN MODIFICATIONS, DNA METHYLATION, EPIGENETIC MECHANISMS, FSHD, ICF, RTT, GENE SILENCING |
| الوصف: | Epigenetic regulation of gene expression is mediated through several mechanisms, including modifications in DNA methylation, covalent modifications of core nucleosomal histones, rearrangement of histones and RNA interference. It is now clear that deregulation of epigenetic mechanisms cooperates with genetic alterations in the development and progression of several Mendelian disorders. Here, we summarize the recent findings that highlight how certain inherited diseases, such as Rett syndrome, Immunodeficiency-centromeric instability-facial anomalies syndrome, and facioscapulohumeral muscular dystrophy, result from altered gene silencing. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/16451126; info:eu-repo/semantics/altIdentifier/wos/WOS:000235034500001; volume:69(1); firstpage:1; lastpage:7; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11585/44226Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33644851120 |
| DOI: | 10.1111/j.1399-0004.2005.00540.x |
| الإتاحة: | https://doi.org/10.1111/j.1399-0004.2005.00540.xTest http://hdl.handle.net/11585/44226Test |
| رقم الانضمام: | edsbas.1707E2A8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1399-0004.2005.00540.x |
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