|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 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 | A common nonsense mutation results in α-actinn-3 deficiency in the general population显示文摘 | NORTH K N YANG N WATTANASIRICHAIGOON D | 1999 | Nature Genet1999，21，4： | 1 |
| 3 | Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart s hydrops fetalis显示文摘 | Wattanasirichaigoon D Promsonthi P Chuansumrit A | 2008 | Clin Genet2008，74，3： | 1 |
| 4 | Ischemic preconditioning ameliorates ischemia and reperfusion -induced intestinal epithelial hyperpermeability in rats显示文摘 | MeCallion K Wattanasirichaigoon S Gardincr KR | 1997 | Shock1997，14，4： | 1 |
| 5 | A common nonsense mutation results in alpha -actinin - 3 deficiency in the general population 显示文摘 | North KN Yang N Wattanasirichaigoon D | 1999 | Nat Genet1999，21，4： | 1 |
| 6 | A common nonsense mutation results in alpha-actinin-3 defi- ciency in the general population 显示文摘 | NORTH K N YANG N WATTANASIRICHAIGOON D | 1999 | Nat Genet1999，21，4： | 1 |
| 7 | A common nonsense mutation results in alpha-actinin-3 deficiency in the general population显示文摘 | North KN Yang N Wattanasirichaigoon D | 1999 | Nat Genet1999，21，4： | 1 |
| 8 | Effect of mesenteric isehemia and reperfusion or hemorrhagic shock on intestinal mucosal permeability and ATP content in rats 显示文摘 | WATTANASIRICHAIGOON S MENCONI M J DELUDE R L | 1999 | Shock1999，12，2： | 1 |
| 9 | Ischemic preconditioning ameliorates ischemia and reperfusion-induced intestinal epithelial hyperpermeability in rats 显示文摘 | McCallion K Wattanasirichaigoon S Gardiner KR | 2000 | Shock2000，14，4： | 1 |
| 10 | Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy显示文摘 | Nowak KJ Wattanasirichaigoon D Goebel HH et ai | 1999 | Nat Genet1999，23，2： | 1 |
| 11 | A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria显示文摘 | Sirachainan N Wattanasirichaigoon D Suwannarat P | 2009 | J Pediatr Hematol Oncol2009，31，10： | 1 |
| 12 | Effect of mesenteric ischemia and reperfusion or hemorrhagic shock on intestinal mueosal permeability and ATP content in rats 显示文摘 | Wattanasirichaigoon S Menconi M J Delude RL | 1999 | Shock1999，12，2： | 1 |
| 13 | Ringer's ethyl pyruvate solution ameliorates ischemia/reperfusion induced intestinal mucosal injury in rats显示文摘 | SIMS C A WATTANASIRICHAIGOON S MENCONI M J | 2001 | J Crit Care Med2001，29，8： | 1 |
| 14 | Mutation of the gene for Iksassociated with both Jervell and Lange Nielsen and Romano-ward forms of long QT syndrome显示文摘 | 17,Duggal P Vesely B Wattanasirichaigoon D | 1998 | Circulation1998，97，： | 1 |
| 15 | High prevalence of V37I genetic variant in the eonnexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals显示文摘 | Wattanasirichaigoon D Limwongse C Jariengprasert C | 2004 | Clin Genet2004，66，： | 1 |
| 16 | Mutation of the gene for IsK associated with both jervell and lange-nielsen and romano-ward forms of long-QT syndrome显示文摘 | Duggal P MR Vesely D Wattanasirichaigoon | 1998 | Circulation1998，97，2： | 1 |
| 17 | Mutation of the gene for IsK associated with both Jervell and lange-Nielsen and Romano-Ward forms of Long QT syndrome显示文摘 | vesely MR Wattanasirichaigoon D | 1998 | Circulation1998，97，： | 1 |
| 18 | Ringer's ethyl pyruvate solution ameliorates ischemia/reperfusion-induced intestinal mucosal injury in rats显示文摘 | Sims CA Wattanasirichaigoon S Menconi MJ | | 0，，08： | 1 |
| 19 | Ringer' s ethyl pyruvate solution ameliorates isehemiafreperfusion-induced intestinal mueosal injury in rats 显示文摘 | Sims CA Wattanasirichaigoon S Meneoni MJ | 2001 | Crit Care Med2001，29，8： | 1 |
| 20 | Ringer' s ethyl pyruvate solution ameliorates ischemia/reperfusion-in- duced intestinal mucosal injury in rats显示文摘 | Sims CA Wattanasirichaigoon S Menconi M J | 2001 | Crit Care Med2001，29，8： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员