@artikel{Hakim201716,
tajuk = {Neuron-specific splicing},
pengarang = {N H A Hakim and B Y Majlis and H Suzuki and T Tsukahara},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85014435502&doi=10.5582%2fbst.2016.01169&rakan kongsi = 40&md5=8a5044dbf3b905fc2553520a048bcd59},
doi = {10.5582/bst.2016.01169},
terbitan = {18817815},
tahun = {2017},
tarikh = {2017-01-01},
jurnal = {BioScience Trends},
isi padu = {11},
nombor = {1},
halaman = {16-22},
penerbit = {International Advancement Center for Medicine and Health Research Co., Ltd.},
abstrak = {During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. Dalam ulasan ini, we focus on neuronal splicing regulators and discuss several notable regulators in depth. Sebagai tambahan, we have also included an example of splicing regulation mediated by the RBFox protein family. Akhir kata, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated.},
nota = {dipetik oleh 0},
kata kunci = {Alternative RNA Splicing, Alternative Splicing, Haiwan, Antibody Specificity, Biological, Biological Model, Penyakit, Genetik, Manusia, Metabolisme, Models, Nerve Cell, Neurons, Organ Specificity, RNA Splicing},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Brett2014,
tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel},
pengarang = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db},
doi = {10.1371/jurnal.pone.0093409},
terbitan = {19326203},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {PLoS SATU},
isi padu = {9},
nombor = {4},
penerbit = {Perpustakaan Awam Sains},
abstrak = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.},
nota = {dipetik oleh 20},
kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}