Senarai Penerbitan
Terdapat sebilangan besar penyelidikan berkaitan autisme yang boleh dijumpai di Malaysia yang umumnya menumpukan pada ASD, gangguan pembelajaran, alat bantu komunikasi, terapi dan banyak lagi. Senarai penerbitan disediakan di bawah:
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2019 |
Prabhakar, S; Cheah, P S; Zhang, X; Zinter, M; Gianatasio, M; Hudry, E; Bronson, R T; Kwiatkowski, D J; Stemmer-Rachamimov, A; Maguire, C A; Sena-Esteves, M; Tannous, B A; Breakefield, X O Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1 Artikel Jurnal Molecular Therapy - Methods and Clinical Development, 15 , hlm. 18-26, 2019, ISSN: 23290501, (dipetik oleh 2). Abstrak | Pautan | BibTeX | Tag: Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System @artikel{Prabhakar201918, tajuk = {Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1}, pengarang = {S Prabhakar and P S Cheah and X Zhang and M Zinter and M Gianatasio and E Hudry and R T Bronson and D J Kwiatkowski and A Stemmer-Rachamimov and C A Maguire and M Sena-Esteves and B A Tannous and X O Breakefield}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85070908794&doi=10.1016%2fj.omtm.2019.08.003&rakan kongsi = 40&md5=b169187dde0d3b05f8a9d5295a4ad8c4}, doi = {10.1016/j.omtm.2019.08.003}, terbitan = {23290501}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Molecular Therapy - Methods and Clinical Development}, isi padu = {15}, halaman = {18-26}, penerbit = {Akhbar Sel}, abstrak = {Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019}, nota = {dipetik oleh 2}, kata kunci = {Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System}, pubstate = {diterbitkan}, tppubtype = {artikel} } Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019 |
2018 |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Artikel Jurnal Clinical Genetics, 94 (6), hlm. 538-547, 2018, ISSN: 00099163, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing @artikel{Tsuchida2018538, tajuk = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, pengarang = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&rakan kongsi = 40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, terbitan = {00099163}, tahun = {2018}, tarikh = {2018-01-01}, jurnal = {Clinical Genetics}, isi padu = {94}, nombor = {6}, halaman = {538-547}, penerbit = {Blackwell Publishing Ltd}, abstrak = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd}, nota = {dipetik oleh 4}, kata kunci = {Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing}, pubstate = {diterbitkan}, tppubtype = {artikel} } N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
2017 |
Shuib, S; Saaid, N N; Zakaria, DENGAN; Ismail, J; Latiff, Abdul Z Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan Artikel Jurnal Jurnal Patologi Malaysia, 39 (1), hlm. 77-81, 2017, ISSN: 01268635, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu @artikel{Shuib201777, tajuk = {Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan}, pengarang = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&rakan kongsi = 40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9}, terbitan = {01268635}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Jurnal Patologi Malaysia}, isi padu = {39}, nombor = {1}, halaman = {77-81}, penerbit = {Persatuan Pakar Patologi Malaysia}, abstrak = {Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara.}, nota = {dipetik oleh 0}, kata kunci = {Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu}, pubstate = {diterbitkan}, tppubtype = {artikel} } Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara. |
Hameed, S S; Hassan, R; Muhammad, F F Pemilihan dan klasifikasi ekspresi gen dalam gangguan autisme: Penggunaan gabungan penapis statistik dan algoritma GBPSO-SVM Artikel Jurnal PLoS SATU, 12 (11), 2017, ISSN: 19326203, (dipetik oleh 11). Abstrak | Pautan | BibTeX | Tag: Ketepatan, Algoritma, Artikel, Autisme, Gangguan Spektrum Autisme, Gen CAPS2, Pengelasan (maklumat), Pengelas, Kajian Eksperimen, Gen, Ekspresi Gen, Pengenalan Gen, Persatuan Genetik, Prosedur Genetik, Risiko Genetik, Genetik, Algoritma Mesin Vektor Sokongan Pengoptimuman Zarah Perduaan Perduaan Geometri, Manusia, Penilaian risiko, Penyeragaman, Penapis Statistik, Parameter Statistik, Statistik, Mesin Vektor Sokongan @artikel{Hameed2017, tajuk = {Pemilihan dan klasifikasi ekspresi gen dalam gangguan autisme: Penggunaan gabungan penapis statistik dan algoritma GBPSO-SVM}, pengarang = {S S Hameed dan R Hassan dan F F Muhammad}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85033361187&doi=10.1371/journal.pone.0187371&rakan kongsi = 40&md5=f9260d41165145f229a3cf157699635e}, doi = {10.1371/jurnal.pone.0187371}, terbitan = {19326203}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {PLoS SATU}, isi padu = {12}, nombor = {11}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Dalam kerja ini, ekspresi gen dalam gangguan spektrum autisme (ASD) dianalisis dengan matlamat untuk memilih gen yang paling dikaitkan dan melaksanakan pengelasan. Objektif ini dicapai dengan menggunakan gabungan pelbagai penapis statistik dan mesin vektor sokongan pengoptimuman zarah binari geometri berasaskan pembalut (GBPSO-SVM) algoritma. Penggunaan penapis yang berbeza telah diserlahkan dengan memasukkan kriteria nisbah min dan median untuk membuang gen yang sangat serupa. Keputusan menunjukkan bahawa gen yang paling diskriminatif yang dikenal pasti dalam langkah pemilihan pertama dan terakhir termasuk kehadiran gen berulang. (CAPS2), yang ditugaskan sebagai gen yang paling berkaitan dengan risiko ASD. Subset gen gabungan yang dipilih oleh algoritma GBPSO-SVM dapat meningkatkan ketepatan klasifikasi. © 2017 Hameed et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan.}, nota = {dipetik oleh 11}, kata kunci = {Ketepatan, Algoritma, Artikel, Autisme, Gangguan Spektrum Autisme, Gen CAPS2, Pengelasan (maklumat), Pengelas, Kajian Eksperimen, Gen, Ekspresi Gen, Pengenalan Gen, Persatuan Genetik, Prosedur Genetik, Risiko Genetik, Genetik, Algoritma Mesin Vektor Sokongan Pengoptimuman Zarah Perduaan Perduaan Geometri, Manusia, Penilaian risiko, Penyeragaman, Penapis Statistik, Parameter Statistik, Statistik, Mesin Vektor Sokongan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dalam kerja ini, ekspresi gen dalam gangguan spektrum autisme (ASD) dianalisis dengan matlamat untuk memilih gen yang paling dikaitkan dan melaksanakan pengelasan. Objektif ini dicapai dengan menggunakan gabungan pelbagai penapis statistik dan mesin vektor sokongan pengoptimuman zarah binari geometri berasaskan pembalut (GBPSO-SVM) algoritma. Penggunaan penapis yang berbeza telah diserlahkan dengan memasukkan kriteria nisbah min dan median untuk membuang gen yang sangat serupa. Keputusan menunjukkan bahawa gen yang paling diskriminatif yang dikenal pasti dalam langkah pemilihan pertama dan terakhir termasuk kehadiran gen berulang. (CAPS2), yang ditugaskan sebagai gen yang paling berkaitan dengan risiko ASD. Subset gen gabungan yang dipilih oleh algoritma GBPSO-SVM dapat meningkatkan ketepatan klasifikasi. © 2017 Hameed et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan. |
2015 |
Gallagher, D; Voronova, A; Zander, M A; Cancun, G I; Bramall, A; Krause, M P; Abad, C; Tekin, M; Neilsen, P M; Callen, D F; Scherer, S W; Pembunuh, G M; Kaplan, D R; Walz, K; Miller, F D Ankrd11 adalah pengatur kromatin yang terlibat dalam autisme yang penting untuk perkembangan saraf Artikel Jurnal Sel Perkembangan, 32 (1), hlm. 31-42, 2015, ISSN: 15345807, (dipetik oleh 52). Abstrak | Pautan | BibTeX | Tag: Asetilasi, Tingkah Laku Haiwan, Sel Haiwan, Haiwan, Protein Ankrd11, Ankyrin, Domain Ulangan Ankyrin yang Mengandungi Protein 11, Artikel, Autisme, Gangguan Spektrum Autisme, Kelakuan, Penanda Biologi, Meletup, Budaya Sel Otak, Kultur sel, Pembezaan Sel, Percambahan Sel, Sel, Kimia, Kromatin, Immunoprecipitation Chromatin, Berbudaya, Protein Mengikat DNA, Microarray DNA, Protein Pengikat DNA, Aktiviti Enzim, Perempuan, Gen, Profil Ekspresi Gen, Penyasaran Gen, Genetik, Histone, Asetilasi Histone, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Deacetylases Histone, Histones, Manusia, Sel Manusia, Imunoprecipitasi, Utusan, Messenger RNA, Metabolisme, Tikus, Tetikus, Murinae, Mus, Pembezaan Sel Saraf, Pembangunan Sistem Saraf, Neurogenesis, Bukan Manusia, Analisis Urutan Array Oligonukleotida, Patologi, Fenotip, Fisiologi, Titik Mutasi, Pasca Terjemahan, Jurnal Keutamaan, Ekspresi Protein, Pemprosesan Protein, Tindak balas Rantai Polimerase Masa Nyata, Tindak balas Rantai Polimerase Transkrip terbalik, Reaksi Rantai Polimerase Transkripsi Berbalik, RNA, Kecil Mengganggu, RNA Mengganggu Kecil, Dadah yang tidak dikelaskan, Barat, Blotting Barat @artikel{Gallagher201531, tajuk = {Ankrd11 adalah pengatur kromatin yang terlibat dalam autisme yang penting untuk perkembangan saraf}, pengarang = {D Gallagher dan A Voronova dan M A Zander dan G I Cancino dan A Bramall dan M P Krause dan C Abad dan M Tekin dan P M Neilsen dan D F Callen dan S W Scherer dan G M Keller dan D R Kaplan dan K Walz dan F D Miller}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-84922343890&doi = 10.1016% 2fj.devcel.2014.11.031&rakan kongsi = 40&md5 = ad7b8bd3ead790f092e1d8a276d4f25c}, doi = {10.1016/j.devcel.2014.11.031}, terbitan = {15345807}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Sel Perkembangan}, isi padu = {32}, nombor = {1}, halaman = {31-42}, penerbit = {Akhbar Sel}, abstrak = {Ankrd11 adalah pengatur kromatin yang berpotensi terlibat dalam perkembangan saraf dan gangguan spektrum autisme (ASD) tanpa fungsi yang diketahui di otak. Di sini, kami menunjukkan bahawa pengurangan Ankrd11 dalam mengembangkan prekursor saraf kortikal manusia atau manusia menyebabkan penurunan percambahan, neurogenesis berkurang, dan kedudukan neuron yang tidak betul. Fenotip selular yang serupa dan tingkah laku seperti ASD yang menyimpang diperhatikan pada tikus Yoda yang membawa mutasi titik dalam domain pengikat HDAC Ankrd11. Selaras dengan peranan untuk Ankrd11 dalam asetilasi histon, Ankrd11 dikaitkan dengan kromatin dan colocalized dengan HDAC3, dan ungkapan dan asetilasi histon gen sasaran Ankrd11 diubah pada pendahulu saraf Yoda. Lebih-lebih lagi, penurunan proliferasi prekursor yang dimediasi oleh Ankrd11 berjaya diselamatkan dengan menghalang aktiviti histon asetiltransferase atau menyatakan HDAC3. Oleh itu, Ankrd11 adalah pengatur kromatin penting yang mengawal asetilasi histon dan ekspresi gen semasa perkembangan saraf, sehingga memberikan penjelasan yang mungkin untuk kaitannya dengan disfungsi kognitif dan ASD. © 2015 Elsevier Inc.}, nota = {dipetik oleh 52}, kata kunci = {Asetilasi, Tingkah Laku Haiwan, Sel Haiwan, Haiwan, Protein Ankrd11, Ankyrin, Domain Ulangan Ankyrin yang Mengandungi Protein 11, Artikel, Autisme, Gangguan Spektrum Autisme, Kelakuan, Penanda Biologi, Meletup, Budaya Sel Otak, Kultur sel, Pembezaan Sel, Percambahan Sel, Sel, Kimia, Kromatin, Immunoprecipitation Chromatin, Berbudaya, Protein Mengikat DNA, Microarray DNA, Protein Pengikat DNA, Aktiviti Enzim, Perempuan, Gen, Profil Ekspresi Gen, Penyasaran Gen, Genetik, Histone, Asetilasi Histone, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Deacetylases Histone, Histones, Manusia, Sel Manusia, Imunoprecipitasi, Utusan, Messenger RNA, Metabolisme, Tikus, Tetikus, Murinae, Mus, Pembezaan Sel Saraf, Pembangunan Sistem Saraf, Neurogenesis, Bukan Manusia, Analisis Urutan Array Oligonukleotida, Patologi, Fenotip, Fisiologi, Titik Mutasi, Pasca Terjemahan, Jurnal Keutamaan, Ekspresi Protein, Pemprosesan Protein, Tindak balas Rantai Polimerase Masa Nyata, Tindak balas Rantai Polimerase Transkrip terbalik, Reaksi Rantai Polimerase Transkripsi Berbalik, RNA, Kecil Mengganggu, RNA Mengganggu Kecil, Dadah yang tidak dikelaskan, Barat, Blotting Barat}, pubstate = {diterbitkan}, tppubtype = {artikel} } Ankrd11 adalah pengatur kromatin yang berpotensi terlibat dalam perkembangan saraf dan gangguan spektrum autisme (ASD) tanpa fungsi yang diketahui di otak. Di sini, kami menunjukkan bahawa pengurangan Ankrd11 dalam mengembangkan prekursor saraf kortikal manusia atau manusia menyebabkan penurunan percambahan, neurogenesis berkurang, dan kedudukan neuron yang tidak betul. Fenotip selular yang serupa dan tingkah laku seperti ASD yang menyimpang diperhatikan pada tikus Yoda yang membawa mutasi titik dalam domain pengikat HDAC Ankrd11. Selaras dengan peranan untuk Ankrd11 dalam asetilasi histon, Ankrd11 dikaitkan dengan kromatin dan colocalized dengan HDAC3, dan ungkapan dan asetilasi histon gen sasaran Ankrd11 diubah pada pendahulu saraf Yoda. Lebih-lebih lagi, penurunan proliferasi prekursor yang dimediasi oleh Ankrd11 berjaya diselamatkan dengan menghalang aktiviti histon asetiltransferase atau menyatakan HDAC3. Oleh itu, Ankrd11 adalah pengatur kromatin penting yang mengawal asetilasi histon dan ekspresi gen semasa perkembangan saraf, sehingga memberikan penjelasan yang mungkin untuk kaitannya dengan disfungsi kognitif dan ASD. © 2015 Elsevier Inc.. |
Haerian, B S; Shaári, H M; Tan, H J; Fong, C Y; Wong, S W; Ong, L C; Raymond, A A; Tan, C T; Mohamed, DENGAN Genomics, 105 (4), hlm. 229-236, 2015, ISSN: 08887543, (dipetik oleh 5). Abstrak | Pautan | BibTeX | Tag: 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 @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} } 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.. |
2014 |
Brett, M; McPherson, J; Vokal, Z J; Lai, A; Tan, E -S; Ng, Saya; Ong, L -C; Cham, B; Tan, P; Bunga mawar, S; Tan, DAN -C PLoS SATU, 9 (4), 2014, ISSN: 19326203, (dipetik oleh 20). Abstrak | Pautan | BibTeX | Tag: 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 @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} } 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. |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Artikel Jurnal Molecular Syndromology, 5 (6), hlm. 299-303, 2014, ISSN: 16618769, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @artikel{Chen2014299, tajuk = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, pengarang = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&rakan kongsi = 40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, terbitan = {16618769}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {Molecular Syndromology}, isi padu = {5}, nombor = {6}, halaman = {299-303}, penerbit = {S. Karger AG}, abstrak = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, nota = {dipetik oleh 4}, kata kunci = {Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
2013 |
Mousavizadeh, K; Askari, M; Arian, H; Gorjipour, F; Nikpour, A R; Fesyen biasa, M; Aryani, THE; Kamalidehghan, B; Maroof, H R; Houshmand, M Association of human mtDNA mutations with autism in Iranian patients Artikel Jurnal Journal of Research in Medical Sciences, 18 (10), hlm. 926, 2013, ISSN: 17351995, (dipetik oleh 2). Pautan | BibTeX | Tag: Autisme, Artikel Klinikal, Kajian Terkawal, Gen, Gene Frequency, Gene Mutation, Gene Sequence, Persatuan Genetik, Risiko Genetik, Manusia, Surat, Mitochondrial DNA, Molecular Phylogeny, Patofisiologi, Titik Mutasi, Polymerase Chain Reaction @artikel{Mousavizadeh2013926, tajuk = {Association of human mtDNA mutations with autism in Iranian patients}, pengarang = {K Mousavizadeh and M Askari and H Arian and F Gorjipour and A R Nikpour and M Tavafjadid and O Aryani and B Kamalidehghan and H R Maroof and M Houshmand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84887270916&rakan kongsi = 40&md5=3922601b0364489a2b76d620316cc150}, terbitan = {17351995}, tahun = {2013}, tarikh = {2013-01-01}, jurnal = {Journal of Research in Medical Sciences}, isi padu = {18}, nombor = {10}, halaman = {926}, penerbit = {Isfahan University of Medical Sciences(IUMS)}, nota = {dipetik oleh 2}, kata kunci = {Autisme, Artikel Klinikal, Kajian Terkawal, Gen, Gene Frequency, Gene Mutation, Gene Sequence, Persatuan Genetik, Risiko Genetik, Manusia, Surat, Mitochondrial DNA, Molecular Phylogeny, Patofisiologi, Titik Mutasi, Polymerase Chain Reaction}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
2012 |
Tan, E H; Yusoff, A A M; Abdullah, J M; Razak, S A Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Artikel Jurnal Journal of Pediatric Neurosciences, 7 (2), hlm. 123-125, 2012, ISSN: 18171745, (dipetik oleh 3). Abstrak | Pautan | BibTeX | Tag: Remaja, Anxiety Disorder, Artikel, Autisme, Carbamazepine, Laporan kes, Computer Assisted Tomography, Elektroencephalogram, Elektroensefalografi, Febrile Convulsion, Gen, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Manusia, Karyotype, Malaysia, Lelaki, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Fenotip, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid @artikel{Tan2012123, tajuk = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient}, pengarang = {E H Tan and A A M Yusoff and J M Abdullah and S A Razak}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870194979&doi=10.4103%2f1817-1745.102575&rakan kongsi = 40&md5=b73f0bdb583e84404e0fff232faf30cb}, doi = {10.4103/1817-1745.102575}, terbitan = {18171745}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Journal of Pediatric Neurosciences}, isi padu = {7}, nombor = {2}, halaman = {123-125}, abstrak = {Dalam laporan ini, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).}, nota = {dipetik oleh 3}, kata kunci = {Remaja, Anxiety Disorder, Artikel, Autisme, Carbamazepine, Laporan kes, Computer Assisted Tomography, Elektroencephalogram, Elektroensefalografi, Febrile Convulsion, Gen, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Manusia, Karyotype, Malaysia, Lelaki, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Fenotip, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dalam laporan ini, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder). |
Cheah, P -S; Ramshaw, H S; Thomas, P; Toyo-Oka, K; Syiling, X; Martin, S; Coyle, P; Guthridge, M A; Stomski, F; Tetapi, Van Den M; Wynshaw-Boris, A; Lopez, A F; Schwarz, Q Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency Artikel Jurnal Molecular Psychiatry, 17 (4), hlm. 451-466, 2012, ISSN: 13594184, (dipetik oleh 58). Abstrak | Pautan | BibTeX | Tag: 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 @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} } 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. |
Tan, E H; Razak, S A; Abdullah, J M; Yusoff, Mohamed A A Epilepsy Research, 102 (3), hlm. 210-215, 2012, ISSN: 09201211, (dipetik oleh 2). Abstrak | Pautan | BibTeX | Tag: Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene @artikel{Tan2012210, tajuk = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)}, pengarang = {E H Tan and S A Razak and J M Abdullah and A A Mohamed Yusoff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870296042&doi=10.1016%2fj.eplepsyres.2012.08.004&rakan kongsi = 40&md5=25cc4eeb07db2492a7c04c6b3b3b2167}, doi = {10.1016/j.eplepsyres.2012.08.004}, terbitan = {09201211}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Epilepsy Research}, isi padu = {102}, nombor = {3}, halaman = {210-215}, abstrak = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V.}, nota = {dipetik oleh 2}, kata kunci = {Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene}, pubstate = {diterbitkan}, tppubtype = {artikel} } Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V. |