Trichothiodystrophy (TTD)
نویسندگان
چکیده
منابع مشابه
TTD: Therapeutic Target Database
A number of proteins and nucleic acids have been explored as therapeutic targets. These targets are subjects of interest in different areas of biomedical and pharmaceutical research and in the development and evaluation of bioinformatics, molecular modeling, computer-aided drug design and analytical tools. A publicly accessible database that provides comprehensive information about these target...
متن کامل[Trichothiodystrophy: PIBIDS syndrome].
Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as o...
متن کاملTranscriptional changes in trichothiodystrophy cells.
Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD). Different mutations in XPB and XPD can instead cause xeroderma pigmentosum (XP). The completely different features of these disorders have been attributed to TTD being a transcription syndrome. In order to detect transcription...
متن کاملAgeing: Repair and Transcription Keep Us from Premature Ageing
Trichothiodystrophy (TTD) is a complex disorder caused by mutations in the XPD gene which affect both DNA repair and transcription. A mouse with a TTD mutation has now been found to display remarkable signs of premature ageing.
متن کاملUpdate of TTD: Therapeutic Target Database
Increasing numbers of proteins, nucleic acids and other molecular entities have been explored as therapeutic targets, hundreds of which are targets of approved and clinical trial drugs. Knowledge of these targets and corresponding drugs, particularly those in clinical uses and trials, is highly useful for facilitating drug discovery. Therapeutic Target Database (TTD) has been developed to provi...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37680