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Your search keyword '"Lai, Poh San"' showing total 16 results
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16 results on '"Lai, Poh San"'

2. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Author

Moreno Traspas, Ricardo, primary, Teoh, Tze Shin, additional, Wong, Pui-Mun, additional, Maier, Michael, additional, Chia, Crystal Y., additional, Lay, Kenneth, additional, Ali, Nur Ain, additional, Larson, Austin, additional, Al Mutairi, Fuad, additional, Al-Sannaa, Nouriya Abbas, additional, Faqeih, Eissa Ali, additional, Alfadhel, Majid, additional, Cheema, Huma Arshad, additional, Dupont, Juliette, additional, Bézieau, Stéphane, additional, Isidor, Bertrand, additional, Low, Dorrain Yanwen, additional, Wang, Yulan, additional, Tan, Grace, additional, Lai, Poh San, additional, Piloquet, Hugues, additional, Joubert, Madeleine, additional, Kayserili, Hulya, additional, Kripps, Kimberly A., additional, Nahas, Shareef A., additional, Wartchow, Eric P., additional, Warren, Mikako, additional, Bhavani, Gandham SriLakshmi, additional, Dasouki, Majed, additional, Sandoval, Renata, additional, Carvalho, Elisa, additional, Ramos, Luiza, additional, Porta, Gilda, additional, Wu, Bin, additional, Lashkari, Harsha Prasada, additional, AlSaleem, Badr, additional, BaAbbad, Raeda M., additional, Abreu Ferrão, Anabela Natália, additional, Karageorgou, Vasiliki, additional, Ordonez-Herrera, Natalia, additional, Khan, Suliman, additional, Bauer, Peter, additional, Cogne, Benjamin, additional, Bertoli-Avella, Aida M., additional, Vincent, Marie, additional, Girisha, Katta Mohan, additional, and Reversade, Bruno, additional

Published
2022
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3. Blending oxytocin and dopamine with everyday creativity

Author

Chong, Anne, primary, Tolomeo, Serenella, additional, Xiong, Yue, additional, Angeles, Dario, additional, Cheung, Mike, additional, Becker, Benjamin, additional, Lai, Poh San, additional, Lei, Zhen, additional, Malavasi, Fabio, additional, Tang, Qianzi, additional, Chew, Soo Hong, additional, and Ebstein, Richard P., additional

Published
2021
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6. NRG1 variant effects in patients with Hirschsprung disease

Author

Raman Sethi, Alvin Santoso Kalim, Akhmad Makhmudi, Gunadi, Indra Adrianto, Lai Poh San, Nova Yuli Prasetyo Budi, Kristy Iskandar, Taufik Indrawan, and Aditya Rifqi Fauzi

Subjects
Adult, Male, 0301 basic medicine, Hirschsprung disease, Neuregulin-1, Population, Transcription factor binding motif, Polymerase Chain Reaction, Pathogenesis, 03 medical and health sciences, NRG1 variant, 0302 clinical medicine, Asian People, Polymorphism (computer science), medicine, Humans, Coding region, Genetic Predisposition to Disease, Neuregulin 1, education, Enhancer, Gene, Genetics, education.field_of_study, biology, business.industry, lcsh:RJ1-570, Genetic disorder, Genetic Variation, lcsh:Pediatrics, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Indonesia, Case-Control Studies, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, biology.protein, Female, business, Research Article, Protein Binding, Transcription Factors
Abstract

Background Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This study aims to investigate the contribution of the NRG1 gene to HSCR development in an Indonesian population. Methods We analyzed the entire coding region of the NRG1 gene in 54 histopathologically diagnosed HSCR patients. Results All patients were sporadic non-syndromic HSCR with 53/54 (98%) short-segment and 1/54 (2%) long-segment patients. NRG1 gene analysis identified one rare variant, c.397G > C (p.V133 L), and three common variants, rs7834206, rs3735774, and rs75155858. The p.V133 L variant was predicted to reside within a region of high mammalian conservation, overlapping with the promoter and enhancer histone marks of relevant tissues such as digestive and smooth muscle tissues and potentially altering the AP-4_2, BDP1_disc3, Egr-1_known1, Egr-1_known4, HEN1_2 transcription factor binding motifs. This p.V133 L variant was absent in 92 non-HSCR controls. Furthermore, the rs7834206 polymorphism was associated with HSCR by case–control analysis (p = 0.037). Conclusions This study is the first report of a NRG1 rare variant associated with HSCR patients of South-East Asian ancestry and provides further insights into the contribution of NRG1 in the molecular genetic pathogenesis of HSCR. Electronic supplementary material The online version of this article (10.1186/s12887-018-1265-x) contains supplementary material, which is available to authorized users.

Published
2018

10. Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2

Author

Yoshimoto, Satomi, primary, Harahap, Nur Imma Fatimah, additional, Hamamura, Yuko, additional, Ar Rochmah, Mawaddah, additional, Shima, Ai, additional, Morisada, Naoya, additional, Shinohara, Masakazu, additional, Saito, Toshio, additional, Saito, Kayoko, additional, Lai, Poh San, additional, Matsuo, Masafumi, additional, Awano, Hiroyuki, additional, Morioka, Ichiro, additional, Iijima, Kazumoto, additional, and Nishio, Hisahide, additional

Published
2016
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11. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene

Author

Taku Shirakawa, Lai Poh-San, Masafumi Matsuo, and Kaoru Nishiyama

Subjects
Male, Genetics, Chromosomes, Human, X, Mutation, Sequence analysis, Point mutation, DNA Mutational Analysis, Infant, Newborn, Exons, Glucosephosphate Dehydrogenase, Biology, medicine.disease_cause, Molecular biology, Exon, Glucosephosphate Dehydrogenase Deficiency, Evaluation Studies as Topic, Multiplex polymerase chain reaction, Mutagenesis, Site-Directed, medicine, Humans, Point Mutation, Primer (molecular biology), Gene, Genetics (clinical), X chromosome
Abstract

We have developed a fast and comprehensive method to scan for point mutations in a gene on X chromosome. A target region of the gene is first amplified. Then, using the amplified product as a template, PCR is carried out with multiple short-length forward primers arrayed in tandem in the scanned region, and a common reverse primer. The absence of amplified product defines the site of a mutation within a narrow region of the primer recognition site. To evaluate our method, point mutations in exon 12 of the human glucose-6-phosphate dehydrogenase (G6PD) gene were used as a model system. Out of 12 Singaporean G6PD-deficient patients, 6 cases were shown by the method to have a nucleotide change in this exon. Sequence analysis confirmed the presence of a nucleotide change in the region identified by our scanning. Thus, our method is accurate in localizing mutations within a narrow region, and allows large numbers of samples to be handled simultaneously.

Published
1997

12. Comparison of insertion rate of L1 retroposon into intron 30 of the neurofibromatosis type 1 gene in seven Asian and Pacific populations

Author

Masafumi Matsuo, Lai Poh-San, Kaoru Nishiyama, Takafumi Ishida, and Taku Shirakawa

Subjects
Neurofibromatosis 1, Retroelements, Population, Biology, Polymerase Chain Reaction, Loss of heterozygosity, Gene Frequency, Polymorphism (computer science), Genes, Neurofibromatosis 1, Genotype, Humans, Allele, education, Allele frequency, Alleles, Asia, Southeastern, Genetics (clinical), Malay, Genetics, New Guinea, education.field_of_study, Base Sequence, Asia, Eastern, Incidence, Retroposon, Introns, language.human_language, language
Abstract

The allele frequency of a L1 retroposon insertion into intron 30 of the neurofibromatosis type 1 (NF1) gene was determined by analyzing amplified fragment lengths in seven Asian or Pacific population; namely, Japanese, Chinese. Indian, Malay, Filipino, Indonesian and New Guinean. Nearly 100 chromosomes from each group were analyzed. The presence of the L1 insertion was identified by the appearance of an abnormally large PCR-amplified product. The insertion frequency varied from 0.45 to 0.75, depending on the population group. Malay and Indonesian populations were found to have the highest insertion frequencies (0.75 and 0.72, respectively), while the wild-type genotype was more prevalent in Indians. The lowest insertion frequency (0.45), observed in Indians, was nearest to that reported in Westerners (0.35). The different L1 insertion frequencies found in Asian and Pacific groups reflect a major divergence in these human populations. Japanese and Chinese populations showed the highest heterozygosity (0.50), suggesting the usefulness of this polymorphism in linkage analysis in these populations.

Published
1996

13. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Author

Bennett, Richard R, primary, Schneider, Hal E, additional, Estrella, Elicia, additional, Burgess, Stephanie, additional, Cheng, Andrew S, additional, Barrett, Caitlin, additional, Lip, Va, additional, Lai, Poh San, additional, Shen, Yiping, additional, Wu, Bai-Lin, additional, Darras, Basil T, additional, Beggs, Alan H, additional, and Kunkel, Louis M, additional

Published
2009
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