@artikel{Hnoual2017,
tajuk = {Analisis microarray kromosom dalam kohort populasi yang kurang diwakili mengenal pasti SERINC2 sebagai gen calon baru untuk gangguan spektrum autisme},
pengarang = {A Hnoonual dan W Thammachote dan T Tim-Aroon dan K Rojnueangnit dan T Hansakunachai dan T Sombuntham dan R Roongpraiwan dan J Worachotekamjorn dan J Chuthapisith dan S Fucharoen dan D Wattanasirichaigoon dan N Ruangdaraganon dan P Limprasert dan N Jinawath},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85029864969&doi=10.1038/s41598-017-12317-3&rakan kongsi = 40&md5=3c1b6a0c064665aab8ace8e8f58c2b01},
doi = {10.1038/s41598-017-12317-3},
terbitan = {20452322},
tahun = {2017},
tarikh = {2017-01-01},
jurnal = {Laporan Saintifik},
isi padu = {7},
nombor = {1},
penerbit = {Kumpulan Penerbitan Alam},
abstrak = {Mikroarray kromosom (CMA) kini diiktiraf sebagai ujian genetik peringkat pertama untuk pengesanan variasi nombor salinan (CNV) pada pesakit dengan gangguan spektrum autisme (ASD). Matlamat kajian ini adalah untuk mengenal pasti ASD-CNV yang diketahui dan baru yang berkaitan dan untuk menilai hasil diagnostik CMA dalam pesakit Thai dengan ASD. Infinium CytoSNP-850K BeadChip telah digunakan untuk mengesan CNV dalam 114 Pesakit Thai terdiri daripada 68 pesakit ASD retrospektif (kumpulan 1) dengan penggunaan CMA sebagai ujian baris kedua dan 46 bakal pesakit ASD dan kelewatan perkembangan (kumpulan 2) dengan penggunaan CMA sebagai ujian peringkat pertama. Kami mengenal pasti 7 (6.1%) CNV patogenik dan 22 (19.3%) varian kepentingan klinikal yang tidak pasti (ANDA). Sejumlah 29 pesakit dengan CNV patogen dan VOUS ditemui di 22% (15/68) dan 30.4% (14/46) daripada pesakit dalam kumpulan 1 dan 2, masing-masing. Perbezaan frekuensi CNV yang dikesan antara 2 kumpulan tidak signifikan secara statistik (Chi kuasa dua = 1.02},
nota = {dipetik oleh 6},
kata kunci = {Remaja, Autisme, Gangguan Spektrum Autisme, Anak-anak, Pemetaan Kromosom, Pemetaan Kromosom, Analisis Kohort, Kajian Kohort, Variasi Nombor Salin, Variasi Nombor Salinan DNA, Perempuan, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Genetik, Manusia, Bayi, Lelaki, Protein Membran, Protein Membran, Analisis Mikroarray, Polimorfisme, Prasekolah, Kanak-kanak Prasekolah, Prosedur, SERINC2 Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Haerian2015229,
tajuk = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia},
pengarang = {B S Haerian and H M Shaári and H J Tan and C Y Fong and S W Wong and L C Ong and A A Raymond and C T Tan and Z Mohamed},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924135981&doi=10.1016%2fj.ygeno.2015.02.001&rakan kongsi = 40&md5=209a1720cddfd76bfa515ee8940749d5},
doi = {10.1016/j.ygeno.2015.02.001},
terbitan = {08887543},
tahun = {2015},
tarikh = {2015-01-01},
jurnal = {Genomics},
isi padu = {105},
nombor = {4},
halaman = {229-236},
penerbit = {Academic Press Inc.},
abstrak = {RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.},
nota = {dipetik oleh 5},
kata kunci = {Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Cheah2012451,
tajuk = {Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency},
pengarang = {P -S Cheah and H S Ramshaw and P Q Thomas and K Toyo-Oka and X Xu and S Martin and P Coyle and M A Guthridge and F Stomski and M Van Den Buuse and A Wynshaw-Boris and A F Lopez and Q P Schwarz},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84859007028&doi=10.1038%2fmp.2011.158&rakan kongsi = 40&md5=7f507fef31a192a10b3cde7bf69b5442},
doi = {10.1038/mp.2011.158},
terbitan = {13594184},
tahun = {2012},
tarikh = {2012-01-01},
jurnal = {Molecular Psychiatry},
isi padu = {17},
nombor = {4},
halaman = {451-466},
abstrak = {Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Di sini, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved.},
nota = {dipetik oleh 58},
kata kunci = {14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Haiwan, Artikel, Autisme, Gangguan Tingkah Laku, Bipolar Disorder, Otak, Cell Movement, Sel, Cognitive Defect, Kajian Terkawal, Berbudaya, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Perempuan, Gen, Gene Deletion, Kecenderungan Genetik kepada Penyakit, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Manusia, Hiperaktif, Inbred C57BL, Isoprotein, Knockout, Belajar, Lelaki, Maze Learning, Memory, Tikus, Motor Activity, Tetikus, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Bukan Manusia, Jurnal Keutamaan, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Faktor risiko, Skizofrenia, Sensory Gating, Synapse, Dadah yang tidak dikelaskan},
pubstate = {diterbitkan},
tppubtype = {artikel}
}