Publications by authors named "Nur Farrah Dila Ismail"
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
J Mol Diagn
March 2017
Article Synopsis
- * A study involving 34 Malaysian TSC patients utilized a new detection method combining multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS), resulting in 18% of patients with TSC1 mutations and 62% with TSC2 mutations, while 18% had no mutations.
- * This combined strategy not only identified novel mutations but also reduced detection costs by 81% and shortened the processing time by one week compared to traditional methods, suggesting
Background: Previous studies have shown potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex. Although everolimus (a rapalog) is currently approved by the FDA (U.S.
View Article and Find Full Text PDFBackground: Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Sclerosis Complex (TSC).
Methods: Our data sources included electronic searches of the PubMed.
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes.
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