Focal areas of a high rate of fragile X in Indonesia: a long term follow up
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), whi...
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Diponegoro University
2019
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oai:doaj.org-article:fd5402abd1e94b20ba596f5f0582e3262021-11-05T16:47:32ZFocal areas of a high rate of fragile X in Indonesia: a long term follow up2503-217810.14710/jbtr.v5i2.6895https://doaj.org/article/fd5402abd1e94b20ba596f5f0582e3262019-12-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/6895https://doaj.org/toc/2503-2178Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning abilitySultana MH FaradzTri Indah WinarniDiponegoro Universityarticlefragile x syndromehigh rateindonesiaMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 5, Iss 2, Pp 67-68 (2019) |
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| collection |
DOAJ |
| language |
EN |
| topic |
fragile x syndrome high rate indonesia Medicine (General) R5-920 |
| spellingShingle |
fragile x syndrome high rate indonesia Medicine (General) R5-920 Sultana MH Faradz Tri Indah Winarni Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| description |
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability |
| format |
article |
| author |
Sultana MH Faradz Tri Indah Winarni |
| author_facet |
Sultana MH Faradz Tri Indah Winarni |
| author_sort |
Sultana MH Faradz |
| title |
Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| title_short |
Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| title_full |
Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| title_fullStr |
Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| title_full_unstemmed |
Focal areas of a high rate of fragile X in Indonesia: a long term follow up |
| title_sort |
focal areas of a high rate of fragile x in indonesia: a long term follow up |
| publisher |
Diponegoro University |
| publishDate |
2019 |
| url |
https://doaj.org/article/fd5402abd1e94b20ba596f5f0582e326 |
| work_keys_str_mv |
AT sultanamhfaradz focalareasofahighrateoffragilexinindonesiaalongtermfollowup AT triindahwinarni focalareasofahighrateoffragilexinindonesiaalongtermfollowup |
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1718444141408419840 |