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4. Supplementary Table 4 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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5. Supplementary Figure 2 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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6. Supplementary Methods from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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7. Supplementary Figure 7 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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8. Supplementary Figure 6 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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9. Supplementary Figure 4 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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10. Supplementary Table 7 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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11. Supplementary Table 6 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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12. Supplementary Table 8 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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13. Supplementary Table 1 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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14. Supplementary Table 3 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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15. Supplementary Figure 3 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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16. Supplementary Figure 5 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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17. Supplementary Table 5 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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18. TABLE 1 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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19. Supplementary Table 9 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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20. Supplementary Table 2 from Establishment and Characterization of an Epstein-Barr Virus–positive Cell Line from a Non-keratinizing Differentiated Primary Nasopharyngeal Carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, primary, Lee, Hui Mei, primary, Abdul Aziz, Norazlin, primary, Yee, Pei San, primary, Marzuki, Marini, primary, Wong, Ka Wo, primary, Chiang, Alan K.S., primary, Chow, Larry Ka-Yue, primary, Dai, Wei, primary, Liu, Teng Fei, primary, Tan, Lu Ping, primary, Khoo, Alan Soo Beng, primary, Lo, Kwok Wai, primary, Lim, Paul V.H., primary, Rajadurai, Pathmanathan, primary, Lightfoot, Howard, primary, Barthorpe, Syd, primary, Garnett, Mathew J., primary, and Cheong, Sok Ching, primary

Published
2024
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21. Establishment and characterization of an Epstein-Barr virus-positive cell line from a non-keratinizing differentiated primary nasopharyngeal carcinoma

Author

Chai, Annie Wai Yeeng, primary, Yee, Shi Mun, additional, Lee, Hui Mei, additional, Abdul Aziz, Norazlin, additional, Yee, Pei San, additional, Marzuki, Marini, additional, Wong, Ka Wo, additional, Chiang, Alan K.S., additional, Chow, Larry Ka-Yue, additional, Dai, Wei, additional, Liu, Teng Fei, additional, Tan, Lu Ping, additional, Khoo, Alan Soo Beng, additional, Lo, Kwok Wai, additional, Lim, Paul VH, additional, Rajadurai, Pathmanathan, additional, Lightfoot, Howard, additional, Barthorpe, Syd, additional, Garnett, Mathew J, additional, and Cheong, Sok Ching, additional

Published
2024
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25. Dielectrophoretic deformation of breast cancer cells for lab on a chip applications

Author

Chan, Jun Yuan, Ahmad Kayani, Aminuddin Bin, Md Ali, Mohd Anuar, Kok, Chee Kuang, Ramdzan Buyong, Muhamad, Hoe, Susan Ling Ling, Marzuki, Marini, Soo-Beng Khoo, Alan, Sriram, Sharath, Ostrikov, Kostya, Chan, Jun Yuan, Ahmad Kayani, Aminuddin Bin, Md Ali, Mohd Anuar, Kok, Chee Kuang, Ramdzan Buyong, Muhamad, Hoe, Susan Ling Ling, Marzuki, Marini, Soo-Beng Khoo, Alan, Sriram, Sharath, and Ostrikov, Kostya

Abstract

This paper presents the development and experimental analysis of a curved microelectrode platform for the DEP deformation of breast cancer cells (MDA-MB-231). The platform is composed of arrays of curved DEP microelectrodes which are patterned onto a glass slide and samples containing MDA-MB-231 cells are pipetted onto the platform's surface. Finite element method is utilised to characterise the electric field gradient and DEP field. The performance of the system is assessed with MDA-MB-231 cells in a low conductivity 1% DMEM suspending medium. We applied sinusoidal wave AC potential at peak to peak voltages of 2, 5, and 10 Vpp at both 10 kHz and 50 MHz. We observed cell blebbing and cell shrinkage and analyzed the percentage of shrinkage of the cells. The experiments demonstrated higher percentage of cell shrinkage when cells are exposed to higher frequency and peak to peak voltage electric field.

Published
2019

28. Dielectrophoresis-based microfluidic platforms for cancer diagnostics

Author

Chan, Jun Yuan, Ahmad Kayani, Aminuddin Bin, Md Ali, Mohd Anuar, Kok, Chee Kuang, Majlis, Burhanuddin, Hoe, Susan, Marzuki, Marini, Khoo, Alan Soo-Beng, Ostrikov, Ken, Rahman, Ataur, Sriram, Sharath, Chan, Jun Yuan, Ahmad Kayani, Aminuddin Bin, Md Ali, Mohd Anuar, Kok, Chee Kuang, Majlis, Burhanuddin, Hoe, Susan, Marzuki, Marini, Khoo, Alan Soo-Beng, Ostrikov, Ken, Rahman, Ataur, and Sriram, Sharath

Abstract

The recent advancement of dielectrophoresis (DEP)-enabled microfluidic platforms is opening new opportunities for potential use in cancer disease diagnostics. DEP is advantageous because of its specificity, low cost, small sample volume requirement, and tuneable property for microfluidic platforms. These intrinsic advantages have made it especially suitable for developing microfluidic cancer diagnostic platforms. This review focuses on a comprehensive analysis of the recent developments of DEP enabled microfluidic platforms sorted according to the target cancer cell. Each study is critically analyzed, and the features of each platform, the performance, added functionality for clinical use, and the types of samples, used are discussed. We address the novelty of the techniques, strategies, and design configuration used in improving on existing technologies or previous studies. A summary of comparing the developmental extent of each study is made, and we conclude with a treatment of future trends and a brief summary.

Published
2018

30. Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder

Author

Hayati Fatemeh, Surini Yusoff, Che Badariah Ab Aziz, Amin Baig Atif, Marzuki Marini, Teguh Haryo Sasongko, Z A M H Zabidi-Hussin, Abdulqawee Mahyoob Rani, Hisahide Nishio, Gunadi, and Bin Alwi Zilfalil

Subjects
Genotype, DNA Mutational Analysis, Molecular Sequence Data, Autophagy-Related Proteins, SMN1, Biology, medicine.disease_cause, Bioinformatics, Polymorphism, Single Nucleotide, Muscular Atrophy, Spinal, Asian People, Japan, Developmental Neuroscience, Polymorphism (computer science), medicine, Humans, SNP, Genetic Predisposition to Disease, Genetic Testing, Genetic testing, Mutation, Base Sequence, medicine.diagnostic_test, Malaysia, RNA-Binding Proteins, Sequence Analysis, DNA, General Medicine, Spinal muscular atrophy, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Pediatrics, Perinatology and Child Health, Neurology (clinical)
Abstract

Background: The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarity in clinical and pathological features of cat and human SMA may give an insight into possible similarity of the genetic etiology. Patients and methods: In this study, we screened for a mutation in LIX1 using direct DNA sequencing in our SMA and/or SMA-like patients who retained SMN1. A total of 33 patients were enrolled in this study, of which 22 were Japanese and 11 were Malaysians. All these patients possessed at least two copies of SMN1. Results: We did not identify any pathogenic mutations in the coding regions or splice sites of LIX1 in the patients. In addition, we described a polymorphism within LIX1 intron 3, c.387 + 107A > T. We found that A-allele is significantly more frequent in SMA patients compared to normal individuals. Conclusion: Molecular genetic analysis of our SMA and/or SMA-like patients suggests that LIX1 is not associated with the development of their disorders. However, the number of patients analyzed in this study was very limited, and a larger study with bigger sample size is needed to confirm this result. 2009 Elsevier B.V. All rights reserved.

Published
2010
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31. Dielectrophoresis-based microfluidic platforms for cancer diagnostics

Author

Chan, Jun Yuan, primary, Ahmad Kayani, Aminuddin Bin, additional, Md Ali, Mohd Anuar, additional, Kok, Chee Kuang, additional, Majlis, Burhanuddin Yeop, additional, Hoe, Susan Ling Ling, additional, Marzuki, Marini, additional, Khoo, Alan Soo-Beng, additional, Ostrikov, Kostya (Ken), additional, Rahman, Md. Ataur, additional, and Sriram, Sharath, additional

Published
2018
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32. Nutrient composition of Brachiaria dictyneura grass

Author

Wan Hamat, Nik Siti Mariani, Ahmad Marzuki, Marini, Sithambaram, Shanmugavelu, Yaakub, Halimatun, Hasim, I., Wan Hamat, Nik Siti Mariani, Ahmad Marzuki, Marini, Sithambaram, Shanmugavelu, Yaakub, Halimatun, and Hasim, I.

Published
2016

33. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

Author

Amin Baig Atif, Teguh Haryo Sasongko, Bin Alwi Zilfalil, Thean-Hock Tang, Z A M H Zabidi-Hussin, Hayati Fatemeh, M S Watihayati, Wan Mohd Zahiruddin, Marzuki Marini, and Hisahide Nishio

Subjects
Genotype, DNA Mutational Analysis, Gene Dosage, SMN1, Biology, Gene dosage, Polymerase Chain Reaction, Severity of Illness Index, Muscular Atrophy, Spinal, Exon, Developmental Neuroscience, Predictive Value of Tests, medicine, Humans, Genetic Predisposition to Disease, SMN Complex Proteins, General Medicine, Spinal muscular atrophy, Exons, medicine.disease, SMA, Prognosis, Molecular biology, Neuronal Apoptosis-Inhibitory Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), NAIP, Age of onset, Gene Deletion
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. The SMN2 gene is highly homologous to SMN1 and has been reported to be correlated with severity of the disease. The clinical presentation of SMA varies from severe to mild, with three clinical subtypes (type I, type II, and type III) that are assigned according to age of onset and severity of the disease. Here, we aim to investigate the potential association between the number of copies of SMN2 and the deletion in the NAIP gene with the clinical severity of SMA in patients of Malaysian origin. Forty-two SMA patients (14 of type I, 20 type II, and 8 type III) carrying deletions of the SMN1 gene were enrolled in this study. SMN2 copy number was determined by fluorescence-based quantitative polymerase chain reaction assay. Twenty-nine percent of type I patients carried one copy of SMN2, while the remaining 71% carried two copies. Among the type II and type III SMA patients, 29% of cases carried two copies of the gene, while 71% carried three or four copies of SMN2. Deletion analysis of NAIP showed that 50% of type I SMA patients had a homozygous deletion of exon 5 of this gene and that only 10% of type II SMA cases carried a homozygous deletion, while all type III patients carried intact copies of the NAIP gene. We conclude that there exists a close relationship between SMN2 copy number and SMA disease severity, suggesting that the determination of SMN2 copy number may be a good predictor of SMA disease type. Furthermore, NAIP gene deletion was found to be associated with SMA severity. In conclusion, combining the analysis of deletion of NAIP with the assessment of SMN2 copy number increases the value of this tool in predicting the severity of SMA.

Published
2008

34. Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients

Author

Marzuki, Marini and Marzuki, Marini

Abstract

Spinal Muscular Atrophy (SMA) is the second most frequent fatal autosomal recessive disorder of childhood. The incidence of this disease is approximately 1 in 10000 live births. SMA is characterized by progressive muscle weakness resulting from degeneration and loss of motor neurons in the anterior horn of spinal cord. The responsible genes for SMA are Survival of Motor Neuron (SMN). SMN1 and SMN2 genes share over 99.8% sequence homology and they can be distinguished by base changes in both exons 7 and 8. SMN1 gene is not detectable in majority of SMA cases due to either deletion or conversion. Conventionally, the homozygous deletion of SMN1 gene is detected using Polymerase Chain Reaction-Restriction Enzyme (PCR-RE) method. This method is time consuming, expensive and requires restriction enzyme digestion and a considerably high amount of amplified DNA to be visible after digestion. This may lead to false-negative results. To avoid these problems, we have developed an alternative method using an allele-specific primer for the molecular diagnosis of SMA which is more time-saving and cost-effective. The freeze dry platform was applied to the multiplex AS-PCR for the development of a thermostabilize diagnostic kit. A total of one hundred and forty three samples of clinically suspected SMA were included in this study. Conventional molecular diagnosis using PCR-RE was done to detect the presence or absent of SMN1 deletion in these samples.

Published
2012

35. Content of luteolin and luteolin-7-О-glucoside from the leaves of Vernonia amygdalinaDel., and synergistic inhibitory effect with cisplatin on nasopharyngeal carcinoma cells

Author

Daker, Maelinda, Jayaweera, Udyanee, Marzuki, Marini, Gunasegaran, Gunaletchumy, Chew, Yik Ling, Ahmad, Mariam, and Akowuah, Gabriel Akyirem

Abstract

This study describes the quantification of luteolin and luteolin-7-О-glucoside in methanol leaf extract of Vernonia amygdalinaby HPLC method. Dried powdered leaves were extracted with methanol at 40 °C for 6 h and freeze-dried. The freeze-dried sample was then analyzed by HPLC. The content of luteolin was lesser than luteolin-7-O-glucoside in the extract. The extract and the bioactive compounds were screened for inhibitory effects on nasopharyngeal carcinoma cells. Flow-cytometry and high content analysis were performed to detect luteolin-induced apoptosis. The effects of combining luteolin and cisplatin on cultured cells were explored. Luteolin produced a dose-dependent inhibition of all cell lines tested. Flow cytometry analysis revealed that luteolin did not induce apoptosis. Simultaneous combinations of luteolin and cisplatin produced synergistic effects, suggesting that the dosage of cisplatin required to treat NPC could be reduced with the addition of luteolin; sequentially lessening the risk of cisplatin-associated toxicity.

Published
2023
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36. Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy

Author

Gunadi, Fatemeh Hayati, M S Watihayati, Manickam Ravichandran, Bin Alwi Zilfalil, Hisahide Nishio, Amin Baig Atif, Teguh Haryo Sasongko, Z A M H Zabidi-Hussin, and Marzuki Marini

Subjects
Male, Pathology, medicine.medical_specialty, allele-specific PCR, SMN1, Biology, Polymerase Chain Reaction, General Biochemistry, Genetics and Molecular Biology, law.invention, Muscular Atrophy, Spinal, PCR-RFLP, law, medicine, Humans, Allele, Polymerase chain reaction, spinal muscular atrophy, SMA diagnostic screening, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Survival of Motor Neuron 1 Protein, Molecular biology, Restriction enzyme, genomic DNA, Original Article, Female, Variants of PCR
Abstract

Background & objectives: Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes. Methods: A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR. Results: The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method. Interpretation & conclusions: Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.

Published
2012
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