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117 |
Umiatin, Indrasari W., Taryudi, Sari P., Mazfufah N.F., Rosadi I. |
57202292099;56069603500;57003576500;55776482300;57215595521;57204720098; |
Effect of pulse electromagnetic field exposure on the expression of lipo protein lipase (LPL) on the differentiation of mesenchymal stem cell |
2021 |
Journal of Physics: Conference Series |
2019 |
1 |
012107 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85119203085&doi=10.1088%2f1742-6596%2f2019%2f1%2f012107&partnerID=40&md5=cd764de9d9b9c1287f97fb09cfd8eea2 |
Department of Physics, Faculty of Mathematics and Natural Science, Universitas Negeri Jakarta, Indonesia; Department of Electronic Engineering, Faculty of Engineering, Universitas Negeri Jakarta, Indonesia; Department of Biology, Faculty of Medicine, Universitas Indonesia, Indonesia, Jl. Rawamangun Muka, Jakarta, 13220, Indonesia; Stem Cells and Tissue Engineering Research Center, IMERI, Faculty of Medicine, Universitas Indonesia, Indonesia; Department of Biology, Faculty of Mathematics and Natural Sciences, Mulawarman University, Samarinda, Indonesia |
Umiatin, Department of Physics, Faculty of Mathematics and Natural Science, Universitas Negeri Jakarta, Indonesia; Indrasari, W., Department of Physics, Faculty of Mathematics and Natural Science, Universitas Negeri Jakarta, Indonesia; Taryudi, Department of Electronic Engineering, Faculty of Engineering, Universitas Negeri Jakarta, Indonesia; Sari, P., Department of Biology, Faculty of Medicine, Universitas Indonesia, Indonesia, Jl. Rawamangun Muka, Jakarta, 13220, Indonesia; Mazfufah, N.F., Stem Cells and Tissue Engineering Research Center, IMERI, Faculty of Medicine, Universitas Indonesia, Indonesia; Rosadi, I., Department of Biology, Faculty of Mathematics and Natural Sciences, Mulawarman University, Samarinda, Indonesia |
Pulsed electromagnetic fields (PEMFs) have an important role in cell differentiation. Previous study reported that PEMFs had positive and negative effect towards cell differentiation that depends on their frequencies applied to the cells. Human adipose-derived stem cells (ASCs) are mesenchymal stem cells that have an ability to differentiate into several types of cell including adipocytes, chondrocytes and osteocytes. This study aimed to evaluate the effect of human ASCs towards their adipogenic differentiation during PEMFs exposure. Human ASCs were isolated from adipose tissue. The cells then cultured in specific medium of adipocyte that induced ASCs differentiation along with PEMFs exposure. The maximum magnetic field used is 2 mT with a frequency of 75 Hz. To confirm the effect of PEMFs exposure towards adipogenic differentiation, mRNA expression of lipo protein lipase (LPL) was measured in mRNA expression level. The results showed that ASCs cultured on adipogenic differentiation without PEMFs exposure gradually increased LPL expression until day 14 of observation, while ASCs with PEMFs exposure significantly decreased LPL expression from day 2 to day 14. Based on the results, we concluded that PEMFs exposure can inhibit LPL expression that suppressed adipogenic differentiation. © 2021 Institute of Physics Publishing. All rights reserved. |
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Electromagnetic field effects; Electromagnetic fields; Proteins; Stem cells; Adipogenic differentiations; Adipose derived stem cells; Cell differentiation; Cell-be; Cell/B.E; Electromagnetic field exposure; Human adipose; Lipo proteins; Mesenchymal stem cell; Pulsed electromagnetic fields; Cell culture |
IOP Publishing Ltd |
17426588 |
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Conference Paper |
Q4 |
210 |
18731 |
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205 |
Krisanti E.A., Gofara T.Z., Rahyussalim A.J., Mulia K. |
14019920500;57260804700;55212166100;6507666535; |
Polyvinyl alcohol (PVA)/chitosan/sodium tripolyphosphate (STPP) hydrogel formulation with freeze-thaw method for anti-tuberculosis drugs extended release |
2021 |
AIP Conference Proceedings |
2370 |
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020010 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85115001335&doi=10.1063%2f5.0063175&partnerID=40&md5=a3c9afce6e9d9f6305976a87eb3a4790 |
Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Department of Orthopedic and Traumatology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, 10430, Indonesia |
Krisanti, E.A., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Gofara, T.Z., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Rahyussalim, A.J., Department of Orthopedic and Traumatology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, 10430, Indonesia; Mulia, K., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia |
Tuberculosis (TB) is one of the infectious diseases which must be routinely oral treated with anti-tuberculosis drugs performed 12-24 months. With treatment using drug implans that can release TB drugs in a longer time in the target location, it will be more effective, because the drug will be close to the target and go directly into the blood. In this study, the PVA / chitosan / STPP hydrogel formulation loaded with 4 types of anti-tuberculosis drugs (isoniazid, ethambutol, pirazinamide, and rifampicin) made using the freeze-thaw method. It is obtained that chitosan addition up until 20% could reduce drug's release rate and hold drug's release until 30 days, but the effect of STPP addition could not be seen because the ammount added is too small which is also shown from FTIR study that there is no STPP in the hydrogel detected. 80% PVA-20% Chitosan- 2% STPP hydrogel formulation release TB drugs the slowest and extended on Isoniazid, Ethambutol, and Rifampicin. SEM study shown that chitosan addition in PVA hydrogel resulted a homogen solution, and hydrogel with densely folded surface. 2% STPP addition resulted in smoother, more homogenous, and smaller pores morphology. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735441262 |
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Conference Paper |
- |
177 |
20880 |
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229 |
Nadhif M.H., Irsyad M., Rahyussalim A.J., Utomo M.S. |
57189057498;57220935587;55212166100;56180933900; |
Geometrical evaluation of CAM-configured thermoplastic polyurethane lattices for intervertebral disc replacements |
2021 |
AIP Conference Proceedings |
2382 |
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030006 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85114011637&doi=10.1063%2f5.0060049&partnerID=40&md5=894c1cbce6bdc985a2b86b40dcf80e06 |
Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Indonesia/Cipto Mangunkusumo Central Hospital, Jakarta, 10430, Indonesia; Stem Cell and Tissue Engineering Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Research Center for Metallurgy and Material, Indonesia Institute of Science (LIPI), Banten, 15310, Indonesia |
Nadhif, M.H., Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Irsyad, M., Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Rahyussalim, A.J., Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Indonesia/Cipto Mangunkusumo Central Hospital, Jakarta, 10430, Indonesia, Stem Cell and Tissue Engineering Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Utomo, M.S., Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Research Center for Metallurgy and Material, Indonesia Institute of Science (LIPI), Banten, 15310, Indonesia |
Intervertebral discs (IVD) are prone to deformation due to higher stress that the discs can endure. Treatments for deformed IVDs include total disc replacements. Some studies concluded the superiority of spinal fusion compared to total disc replacement devices, either in the lumbar or cervical region. In current study, cuboid scaffolds made of thermoplastic polyurethane with lattice architecture were designed and configured using computer-aided manufacturing (CAM). The scaffolds were fabricated using fused filament fabrication. Process parameters were characterized and optimized to obtain scaffolds with uniform cells distribution. The struts at the top surface had average width values closer to the setpoints than the struts at the bottom surface, indicated by lower RMSE values for the struts at the top surface. However, the printing consistency in the same extrusion ratio at the bottom surface was higher than at the top surface, indicated by lower standard deviation values. Statistical analysis using standard deviation, RMSE, and Tukey's test showed that current scaffolds had non-uniform distribution between layers, which required further improvement. © 2021 Author(s). |
Computer-aided manufacturing; intervertebral disc; lattice structure; polyurethane |
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American Institute of Physics Inc. |
0094243X |
9780735441156 |
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Conference Paper |
- |
177 |
20880 |
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280 |
Pradita L.W., Kamilla D.N., Soedarsono N., Yunaini L., Auerkari E.I. |
57226576844;57226575340;14049161500;57192911515;10139113000; |
Intron 4 VNTR A/B polymorphism of endothelial nitric oxide synthase gene in periodontitis |
2021 |
Journal of Physics: Conference Series |
1943 |
1 |
012087 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85112023901&doi=10.1088%2f1742-6596%2f1943%2f1%2f012087&partnerID=40&md5=a0fb2d74d58911990f7e8f70aaf919b9 |
Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Department of Medical Biology, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia |
Pradita, L.W., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Kamilla, D.N., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Soedarsono, N., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Yunaini, L., Department of Medical Biology, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Auerkari, E.I., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia |
Nitric Oxide (NO) is an important mediator in the inflammatory and immune systems. The eNOS gene is one of the three isoforms of Nitric Oxide Synthase (NOS), which is responsible for synthesizing NO. Periodontitis is an inflammatory disease in periodontal tissue with genetic involvement. Polymorphism in eNOS gene changes the functional aspect of this gene and is associated with several inflammatory diseases including periodontitis. Aim: To detect Endothelial Nitric Oxide Synthase intron 4 gene polymorphism in Indonesian population with periodontitis. Analysis of the Endothelial Nitric Oxide Synthase (eNOS) intron 4 gene polymorphism was observed by carrying out PCR method followed by electrophoresis for the analysis, without the usage of restriction enzyme. The chi-square test and odds ratio were performed for statistical analysis. In this study, there were 34 samples with AA genotype, 3 samples with AB genotype, and 13 samples with BB genotype in periodontitis group. Whereas in the control group, there were 41 samples with AA genotype and 9 samples with BB genotype. AB genotype was absent in the control group. In periodontitis group, there were 71 A alleles and 29 B alleles, and in the control group, 82 A alleles and 18 B alleles were found. Polymorphic genotypes and alleles were found higher in periodontitis sample (32% and 29%) than healthy controls (18%). The polymorphism of eNOS intron 4 was found in periodontitis patients. There is no significant distribution difference was found between the periodontitis patients and the control group. ENOS intron 4 gene polymorphism does not affect the risk of periodontitis. © Published under licence by IOP Publishing Ltd. |
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Electrophoresis; Genes; Nitric oxide; Polymerase chain reaction; Polymorphism; Statistical tests; Endothelial nitric oxide synthase; Endothelial nitric-oxide synthase (eNOS); Functional aspects; Gene polymorphism; Inflammatory disease; Nitric-oxide synthase; Periodontal tissue; Restriction enzymes; Diseases |
IOP Publishing Ltd |
17426588 |
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Conference Paper |
Q4 |
210 |
18731 |
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281 |
Gani A.Z., Zahra P.K., Soedarsono N., Yunaini L., Auerkari E.I. |
57222626782;57226565453;14049161500;57192911515;10139113000; |
Vitamin D receptor TaqI (rs731236) gene polymorphism in caries patients |
2021 |
Journal of Physics: Conference Series |
1943 |
1 |
012093 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85112014710&doi=10.1088%2f1742-6596%2f1943%2f1%2f012093&partnerID=40&md5=5891ab3c26dbd9bd14c0be24643600b3 |
Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Department of Medical Biology, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia |
Gani, A.Z., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Zahra, P.K., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Soedarsono, N., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia; Yunaini, L., Department of Medical Biology, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Auerkari, E.I., Department of Oral Biology, Faculty of Dentistry, University of Indonesia, Jakarta, Indonesia |
Vitamin D receptor (VDR) is included in the type of protein that serves as the biological function regulator of vitamin D. Tooth formation, especially in enamel and dentin calcification, as well as maintaining the balance of phosphate and calcium ions which is an important factor in protecting teeth requires support from vitamin D. The VDR gene will regulate the activity of VDR proteins. Caries is a multifactorial disease in which genetic factors can affect the host susceptibility to caries. Polymorphism in the VDR gene is suspected to affect the host susceptibility to caries through changes in calcium metabolism. This study aims to discover the VDR gene polymorphism and its association with caries patients in Indonesia. 100 DNA samples from 100 blood samples, including 50 dental caries patients and 50 healthy controls, were analyzed using PCR-RFLP technique. PCR products were digested with the TaqI restrictive enzyme, then assessed with statistical analysis using Fisher's exact test and Continuity correction test. In the caries group, there were no samples with CC genotype, 4 samples with CT genotype, and 46 samples with TT genotype. There were also 4 C alleles and 96 T alleles. Polymorphic genotypes and alleles were found higher in the caries group (100% and 96%) than healthy controls (88% and 84%). These results conclude that the polymorphism of VDR TaqI (rs731236) gene was found in patients with dental caries. The distribution of genotypes and allele distributions of VDR TaqI (rs731236) gene between caries and healthy controls significantly differs noticeable (p <0.05). © Published under licence by IOP Publishing Ltd. |
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Biomineralization; Calcium; Polymerase chain reaction; Polymorphism; Proteins; Vitamins; Biological functions; Calcium metabolism; Continuity corrections; Gene polymorphism; Healthy controls; Host susceptibility; Multifactorial disease; Vitamin D receptor; Genes |
IOP Publishing Ltd |
17426588 |
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Conference Paper |
Q4 |
210 |
18731 |
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392 |
Hardiany N.S., Amaanullah M.Z.B., Antarianto R.D. |
57192910605;57224223597;57190862806; |
The effect of fasting on malondialdehyde level in liver and plasma of New Zealand white rabbits |
2021 |
AIP Conference Proceedings |
2353 |
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030093 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107282294&doi=10.1063%2f5.0052627&partnerID=40&md5=f1091bc64391ab80b12474af251808e8 |
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Indonesia, Indonesia; Center of Hypoxia and Oxidative Stress Studies, Department of Biochemistry and Molecular Biology, Faculty of Medicine Universitas Indonesia, Indonesia; Faculty of Medicine Universitas Indonesia, Indonesia; Departemnet of Histology, Faculty of Medicine Universitas Indonesia, Indonesia |
Hardiany, N.S., Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Indonesia, Indonesia, Center of Hypoxia and Oxidative Stress Studies, Department of Biochemistry and Molecular Biology, Faculty of Medicine Universitas Indonesia, Indonesia; Amaanullah, M.Z.B., Faculty of Medicine Universitas Indonesia, Indonesia; Antarianto, R.D., Departemnet of Histology, Faculty of Medicine Universitas Indonesia, Indonesia |
Oxidative stress is a state of imbalance of free radicals in the cells and is one of the causes of various diseases in humans. One method that is thought to reduce oxidative stress is calorie restriction or fasting. However, its effects remain unclear. This study was conducted to determine the effect of intermittent fasting and prolonged fasting on the levels of malondialdehyde (MDA) as an oxidative stress marker in the liver and plasma of New Zealand White rabbits. Fifteen of New Zealand White rabbits were divided into three groups (intermittent fasting (IF), prolonged fasting (PF), and control). MDA was measured in plasma and liver homogenate using spectrophotometry. The results were analyzed using One-way ANOVA test. The liver MDA level was decreased in the IF group, but not significant. However, there was a significant increase in plasma MDA levels both in the IF and PF groups. Moreover, liver MDA level was increased in PF group, although it was not significant. In conclusion, intermittent and prolonged fasting could increase plasma MDA levels significantly. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440968 |
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Conference Paper |
- |
177 |
20880 |
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393 |
Yusra Y., Widjaja L., Witjaksono F., Timan I.S., Kumalawati J., Adiyanti S.S., Nurbaya S., Immanuel S. |
57220998367;56906852200;57070455800;6602793366;6504406695;57191952811;57225297244;12777341300; |
Amino acid profile in patients of chronic kidney disease on hemodialysis in Indonesia |
2021 |
AIP Conference Proceedings |
2353 |
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030014 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107266850&doi=10.1063%2f5.0052847&partnerID=40&md5=ca448315d7144ead78ebf8040fae2eb4 |
Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Department of Nutrition, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia |
Yusra, Y., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Widjaja, L., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Witjaksono, F., Department of Nutrition, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Timan, I.S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Kumalawati, J., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Adiyanti, S.S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Nurbaya, S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Immanuel, S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia |
Protein energy wasting (PEW) is a nutritional disorder syndrome that occurs 28-80% in chronic kidney disease (CKD) patients on hemodialysis. Hemodialysis cause the nutrients loss including amino acids, increase protein catabolism induced by inflammation, and inhibit protein synthesis. The objective of this study was to acquire the amino acid profile in CKD patients on hemodialysis. This study used cross sectional design and involving 60 subjects of CKD patients aged >18 years on routine hemodialysis at Dr. Cipto Mangunkusumo National Referral Hospital. Amino acids examination was using dried blood spots (DBSs) sample and Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) method. We examined 10 non-essential (alanine, arginine, aspartic acid, glutamic acid, asparagine, glycine, glutamine, proline, serine, tyrosine), 9 essentials (histidine, phenylalanine, isoleucine, leucine, lysine, methionine, threonine, tryptophan, valine), and 2 special (ornithine, citrulline) amino acids. The results showed that almost all amino acids were lower (6 non-essential, 8 essentials, and citrulline), whereas others were higher (aspartate acid, serine) or normal (glutamic acid, glycine, methionine, and ornithine) than normal reference value from Mayo. CKD patients on hemodialysis have decreased amino acid especially essential amino acids. These results can be used in modification of amino acid supplementation CKD patient on hemodialysis in Indonesia. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440968 |
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Conference Paper |
- |
177 |
20880 |
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434 |
Pustimbara A., Putri D.C., Prakoso N.M., Priambodo R., Ariani Y., Yuliarti K., Bowolaksono A., Sjarif D.R. |
57217086984;57204606877;57214084050;57190937999;57200504713;54917483500;57205093224;6506242684; |
Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population |
2021 |
AIP Conference Proceedings |
2331 |
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050028 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103860378&doi=10.1063%2f5.0042047&partnerID=40&md5=80d1cbd9c9334c733fed5caccbb5bdad |
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia |
Pustimbara, A., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Putri, D.C., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Ariani, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Yuliarti, K., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Bowolaksono, A., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
6-pyruvoyl-tetrahydropterin synthase (PTPS) or tetrahydrobiopterin (BH4) deficiency is the most common enzyme synthesis defect which was reported to cause of hyperphenylalaninemia. This deficiency is caused by pathogenic variant in exons and introns of 6-pyruvoyl-tetrahydropterin synthase (PTS) gene in chromosome 11q22.3-q23.3. This study is focused on the detection of DNA variants in intron 3 especially for insertion and base alteration. Methods that has been carried out in this study are DNA isolation, polymerase chain reaction (PCR), the visualization of PCR products through DNA electrophoresis, and Sanger sequencing. A total 29 variants have been characterized in this study, obtained from the DNA of one Indonesian PTPS patients and 33 healthy individuals as control. Those alterations were categorized into substitution and intronic insertion and located in the sequence of intron 3 and 4 of PTS gene. Further analyses are required to be performed to characterize the effect of identified variants to the splicing events of PTS mRNA. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
- |
177 |
20880 |
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435 |
Widyaningrum A.R., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
57211929162;57214084050;57190937999;57222721787;57204112129;6506242684; |
Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia |
2021 |
AIP Conference Proceedings |
2331 |
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050026 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103846997&doi=10.1063%2f5.0042045&partnerID=40&md5=23bc8c1777e9bfa31dccebb034820f8e |
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia |
Widyaningrum, A.R., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Aswin, Y.A., Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Hafifah, C.N., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked recessive lysosomal storage disorder caused by the accumulation of heparan sulfate and dermatan sulfate due to iduronate-2-sulfatase (IDS) enzyme deficiency. To detect IDS gene mutation, DNA samples are obtained from 10 MPS II patients and 50 normal individuals, then the exon 1 of IDS gene was analyzed with Sanger sequencing. Two novel mutations are found from one male patient at the site of c.22C>A (p.Arg8=) and c.54C>A (p.Ser18Arg). Both mutations are not located in the bases which are responsible as the signal peptide cleavage site. Amino acid substitution c.54C>A (p.Ser18Arg) does not change the hydrophobic characteristic as both amino acids are hydrophobic. Therefore, those mutations do not change IDS enzyme structure nor alter the signaling pathway of IDS mRNA-ribosome complex to the endoplasmic reticulum. This study of exon 1 is the first to be performed in Indonesia. The novel mutations found in this study can contribute to a single nucleotide polymorphism (SNP) database of MPS II patients from all over the world, thus it leads to a deeper understanding of this rare disease at the molecular level. Therefore, a genotype study is needed to get a full profile of MPS II patients in Indonesia. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
- |
177 |
20880 |
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436 |
Pustimbara A., Prakoso N.M., Priambodo R., Ariani Y., Arianto S., Pangestika Y., Bowolaksono A., Sjarif D.R. |
57217086984;57214084050;57190937999;57200504713;57190933807;57204110196;57205093224;6506242684; |
Variant analysis for exon 2 and 5 of iduronate 2-sulfatase gene on mucopolysaccharidosis type II patients in Indonesia |
2021 |
AIP Conference Proceedings |
2331 |
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050027 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103846040&doi=10.1063%2f5.0042046&partnerID=40&md5=1aea65a5d9d11be167de0e0b76440cc5 |
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia |
Pustimbara, A., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Ariani, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Arianto, S., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Pangestika, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Bowolaksono, A., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
Mucopolysaccharidosis type II (MPS II or Hunter Syndrome) is one of lysosomal storage disorder caused by the presence of pathogenic variant in IDS gene. The variant can be found in various exon locations. This research aimed to identify the presence of disease-causing variant that may occurs at exon 2 and 5 of IDS gene on MPS II patient, especially in Indonesia. Based on the previous research that has been conducted in a number of countries, exon 2 and 5 are the exons with the most number of variations. Analysis was conducted on 7 MPS II patient of Indonesian origin and 50 normal individuals as control that consist of 25 male or 25 female individuals. Analysis was done by going through steps of DNA isolation, amplification by polymerase chain reaction (PCR), visualization by electrophoresis, and sequencing. Research result shows that IDS gene from whole samples were successfully analyzed. This study discovered an adenine base deletion c.708+72delA in intron 5 of one healthy individual. The variant is novel and classified as likely benign. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
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177 |
20880 |
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