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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 | The overlapping roles of manganese and Cu/Zn SOD in oxidative stress protection显示文摘 | Amit R. Reddi Laran T. Jensen Amornrat Naranuntarat Leah Rosenfeld Edison Leung Rishita Shah Valeria C. Culotta | 2008 | Free Radical Biology and Medicine2008，，2： | 2 |
| 3 | Implications of Expected Changes in the Seller's Price in Name - Your - Own - Price Auctions 显示文摘 | FAY S LARAN J | 2009 | ManagementScience2009，55，11： | 1 |
| 4 | The overlapping roles of manganese and Cu/Zn SOD in oxidative stress protection 显示文摘 | AMIT R REDDI LARAN T JENSEN AMORNRAT NARANUNTARAT | 2009 | Free Radical Biology & Medicine2009，46，3： | 1 |
| 5 | Work or fun? How task construal and completion influence regulatory behavior显示文摘 | Laran J and Janiszewski C | 2011 | Journal of Consumer Research2011，37，6： | 1 |
| 6 | The overlapping roles of manganese and Cu/Zn SOD in oxidative stress protection显示文摘 | AMIT R R LARAN T J AMORNRAT N | 2009 | Free Radical Biology &Medicine2009，46，： | 1 |
| 7 | Behavioral Consistency and Inconsistency 显示文摘 | Laran | 2009 | JCR2009，，35： | 1 |
| 8 | Choosing Your Future: Temporal Distance and the Balance Between Self- Control and Indulgence 显示文摘 | Laran J | 2010 | Journal of Consumer Research2010，36，6： | 1 |
| 9 | Choosing Your Future:Temporal Distance and the Balance between Self-Control and Indulgence显示文摘 | Laran J | | 0，，06： | 1 |
| 10 | Implications of expected changes in the seller' s price in Name-Your-Own-Price auctions显示文摘 | Fay S Laran J | 2009 | Management Science2009，55，11： | 1 |
| 11 | Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome显示文摘Shwachman-Diamond syndrome(SDS) is a multi-system disorder characterized by bone marrow failure, pancreatic insufficiency,skeletal abnormalities, and increased risk of leukemic transformation. Most patients with SDS contain mutations in the ShwachmanBodian-Diamond syndrome gene(SBDS), encoding a highly conserved protein that has been implicated in ribosome biogenesis.Emerging evidence also suggests a distinct role of SBDS beyond protein translation. Using the yeast model of SDS, we examined the underlying mechanisms that cause cells lacking Sdo1 p, the yeast SBDS ortholog, to exhibit reduced tolerance to various stress conditions.Our analysis indicates that the environmental stress response(ESR), heat shock response(HSR), and endoplasmic reticulum unfolded protein response(UPR) of sdo1 D cells are functional and that defects in these pathways do not produce the phenotypes observed in sdo1 D yeast. Depletion of mitochondrial DNA(mt DNA) was observed in sdo1 D cells, and this is a probable cause of the mitochondrial insufficiency in SDS. Prior disruption of POR1, encoding the mitochondrial voltage dependent anion channel(VDAC), abrogated the effects of SDO1 deletion and substantially restored resistance to environmental stressors and protected against damage to mt DNA.Conversely, wild-type cells over-expressing POR1 exhibited growth impairment and increased stress sensitivity similar to that seen in sdo1 D cells. Overall, our results suggest that specific VDAC inhibitors may have therapeutic benefits for SDS patients. | Waruenada Kanprasoet Laran T.Jensen Suwimon Sriprach Kanate Thitiananpakorn Khanti Rattanapornsompong Amornrat Naranuntarat Jensen | 2015 | Journal of Genetics and Genomics2015，42，12： | 1 |
| 12 | Choosing Your Future: Temporal Distance and the Balance between Self-Control and Indulgence 显示文摘 | Laran J | 2010 | Journal of Consumer Research2010，36，6： | 1 |
| 13 | Implications of Expected Changes in the Seller’s Price in Name-Your-Own-Price Auctions显示文摘 | Scott Fay Juliano Laran | 2009 | Management Science2009，，： | 1 |
| 14 | Metalloregulation of FRE1 and FRE2 Homologs in Saccharomyces cerevisiae 显示文摘 | Laura J Martins Laran T | 1998 | J Biol Chem1998，273，23： | 1 |
| 15 | The curious case of behavioral backlash: Why brands produce priming effects and slogans produce re verse priming effects 显示文摘 | Laran J el al | 2011 | Journal of Consumer Research2011，37，6： | 1 |
| 16 | Hair follicles are viable after delayed FUE pro-cedure 显示文摘 | Mohebbipour Laran A Mirmohammadi R Rezaei BanaM | 2015 | J Cosmet Laser Ther2015，17，6： | 1 |
| 17 | Choosing Your Future: Temporal Distance and the Balance between Self-Control and Indulgence显示文摘 | Laran J | 2010 | Journal of Consumer Research2010，36，6： | 1 |
| 18 | Behavioral Consistency and Inconsistency in the Resolution of Goal Conflict 显示文摘 | Laran J and Janiszewski C | 2009 | Journal of Consumer Research2009，，35： | 1 |
| 19 | The Curious Case of Behavioral Backlash: Why Brands Produce Priming Effects and Slogans Produce Re- verse Priming Effects显示文摘 | LARAN J DALTON A N ANDRADE E B | 2011 | Journal of Consumer Re- search2011，37，6： | 1 |
| 20 | Choosing Your Future: Temporal Distance and the balance between self-control and indulgence显示文摘 | LARAN J | 2010 | J Consumer Res2010，36，6： | 1 |
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