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| 1 | Screening of SLC25A13 mutation in the Thai population显示文摘AIM:To determine the prevalence of SLC25A13 mutations in the Thai population.METHODS:A total of 1537 subjects representing the Thai population were screened for a novel pathologic allele p.Met1?(c.2T>C)and six previously known common SLC25A13 mutations:[Ⅰ](c.851_854delGTAT),[Ⅱ](g.IVS11+1G>A),[Ⅲ](c.1638_1660dup),[Ⅳ](p.S225X),[Ⅴ](IVS13+1G>A),and[XIX](g.IVS16ins3kb)using a newly developed TaqMan and established HybProbe assay,respectively.Sanger sequencing was employed for specimens showing an aberrant peak to confirm the targeted mutation as well as the unknown aberrant peaks detected.Frequencies of the mutations identified were compared in each region.Carrier frequency and disease prevalence of citrin deficiency caused by SCL25A13 mutations were estimated.RESULTS:p.Met1?was identified in the heterozygous state in 85 individuals,giving a carrier frequency of1/18,which suggests possible selective advantage of this variant.The question of p.Met1?homozygote lethality remains unanswered which may serve as an explanation as to why this homozygote has yet to be identified in patients/controls even with high allele frequency.The p.Met1?mutation has rarely been studied in populations other than Thai and Chinese;therefore,may have been overlooked.Development of the TaqMan assay in the present study would allow a simple,rapid,and cost-effective method for mass screening.Heterozygous mutations:[XIX]and[Ⅰ]were identified in 17 individuals,giving a carrier rate of 1/90 and a calculated homozygote rate of 1/33000.Two novel variants,g.IVS11+17C>G and c.1311C>T,of unknown clinical significance were identified at low frequency.CONCLUSION:This study highlighted the current underestimation of citrin deficiency and suggests the possible selective advantage of the p.Met1?allele. | Parith Wongkittichote Chonlaphat Sukasem Atsuo Kikuchi Wichai Aekplakorn Laran T Jensen Shigeo Kure Duangrurdee Wattanasirichaigoon | 2013 | World Journal of Gastroenterology2013，19，43： | 4 |
| 2 | Generation of Pluripotent Stem Cells from Neonatal Mouse Testis显示文摘 | Mito Kanatsu-Shinohara Kimiko Inoue Jiyoung Lee Momoko Yoshimoto Narumi Ogonuki Hiromi Miki Shiro Baba Takeo Kato Yasuhiro Kazuki Shinya Toyokuni Megumi Toyoshima Ohtsura Niwa Mitsuo Oshimura Toshio Heike Tatsutoshi Nakahata Fumitoshi Ishino Atsuo Ogura T | 2004 | Cell2004，，7： | 2 |
| 3 | Evaluation of pilling by computer image analysis显示文摘 | Atsuo K Liang C X Masayuki T | 1988 | Journal of the Textile Machinery Society of Japan1988，41，11： | 1 |
| 4 | Site of fresh gas inlet and ratios of the delivered fraction and inspired fraction of inhaled isoflurane and sevoflurane in lowflow anesthesia显示文摘 | Taeko F Atsuo F Hidenori T | 2006 | J Anesth2006，20，4： | 1 |
| 5 | Relationshipbetween seudoaneurysm formation and biloma after successfultransarterial embolization for severe hepatic injury : permanentembolization using stainless steel coils prevents pseudoaneu-rysm formation显示文摘 | AKIYOSH H’TAKEHIKO T ATSUO M | 2005 | J Trauma2005，59，1： | 1 |
| 6 | Improving thermostability of phosphatidylinositol-synthesizing Streptomyces phospholipase D显示文摘 | Jasmina D Rie T Atsuo S | | 0，，08： | 1 |
| 7 | 显示文摘 | Okazaki Y Atsuo I Tetsuya T | 1993 | Japan Inst Metals1993，57，3： | 1 |
| 8 | Relationship between pseudoaneurysm formation and biloma after successful transarterial embolization for severe hepatic injury:permanent embolization using stainless steel coils prevents pseudoaneurysm formation显示文摘 | Akiyoshi H Takehiko T Atsuo M | 2005 | J Trauma2005，59，： | 1 |
| 9 | Cell surface engineering of yeast:Construction of arming yeast with biocatalyst显示文摘 | Mitsuyoshi U Atsuo T | 2000 | Journal of Bioscience and Bioengineering2000，90，2： | 1 |
| 10 | Antenata] three dimensional sonographie features of fetal biliary atresia 显示文摘 | Masato M Hirokazu T Atsuo N | 2013 | J Med Ultraonics2013，40，3： | 1 |
| 11 | Infiltration of dendritic cells into regional lymph nodes in gastric cancer 显示文摘 | Shunichi T Atsuo O Akira K | 1995 | Cancer Suppl1995，75，6： | 1 |
| 12 | Antenatal three- dimensional sonographie features of fetal biliary atresia显示文摘 | Masato M Hirokazu T Atsuo N | 2013 | J Med Ultraonics2013，40，3： | 1 |
| 13 | Caradiovascular and renal effects of conivaptan hydrochloride( YM087), a vaso- pressin V1A and V2 receptor antagonist, in dogs with pa- cing-induced congestive heart failure 显示文摘 | Takeyuki Y Yuichi T Atsuo T | 1999 | Eur J Pharma- col1999，376，3： | 1 |
| 14 | Evaluation of pilling by computer image analysis 显示文摘 | Atsuo K Liang C X Masayuki T | 1988 | Journal of the Textile Machinery Society of Japan1988，41，7： | 1 |
| 15 | Genetic immobilization of proteins on the yeast cell surfacr显示文摘 | Atsuo T | 2000 | Biotechnology Advances2000，18，： | 1 |
| 16 | Evaluation of pilling by computer image analysis 显示文摘 | Atsuo K Liang C X Masayuki T | 1988 | Journal of the Textile Machinery Society of Japan1988，41，11： | 1 |
| 17 | A biped walking robot having a ZMP measuring system using universal forcemoment sensors显示文摘 | LI Q H ATSUO T ICHIRO K | 1991 | IEEE/RSJ International Workshop on Intelligent Robots and System IROS''91 Osaka Japan1991，11，35： | 1 |
| 18 | Genetic immobilization of proteins on the yeast cell surface显示文摘 | Atsuo T | 2000 | Biotechnology Advances2000，18，： | 1 |
| 19 | In Vitro Biocompatibility, Mechanical Properties, and Corrosion Resistance of Ti- Zr-Nb-Ta-Pd and Ti-Sn-Nb-Ta-Pd Alloys显示文摘 | Atsuo I Yoshimitsu O Tetsuya T | 1995 | Journal of Biomedical Materials research1995，，29： | 1 |
| 20 | Application of immobilized lipase to hydrolysis of triacyeride 显示文摘 | YOSHIHARU K ATSUO T KENJI S | 1983 | Eur J Appl Microbiol Biotechnol1983，17，： | 1 |
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