Experts and Doctors on point mutation in Taiwan

Summary

Locale: Taiwan
Topic: point mutation

Top Publications

  1. Chen Y, Chang Y, Chang J, Wu S. Genotyping of K-ras codons 12 and 13 mutations in colorectal cancer by capillary electrophoresis. J Chromatogr A. 2009;1216:5147-54 pubmed publisher
    ..Ninety colorectal cancer patients were blindly genotyped using this developed method. The results showed good agreement with those of DNA sequencing method. The SSCP-CE was feasible for mutation screening of K-ras gene in populations. ..
  2. Chou C, Lieu A, Wu C, Chang L, Loh J, Lin R, et al. Differential expression of hedgehog signaling components and Snail/E-cadherin in human brain tumors. Oncol Rep. 2010;24:1225-32 pubmed
    ..Taken together, our results demonstrate that Hh signaling components, the expression and mutations of Snail and the expression of E-cadherin may play an important role in human brain tumorigenesis. ..
  3. Wu H, Chang S, Lee N, Huang W, Wu B, Yang C, et al. Evaluation of macrolide resistance and enhanced molecular typing of Treponema pallidum in patients with syphilis in Taiwan: a prospective multicenter study. J Clin Microbiol. 2012;50:2299-304 pubmed publisher
    ..In conclusion, we found that type 14 f/f was the most common T. pallidum strain in this multicenter study on syphilis in Taiwan and that none of the isolates exhibited 23S rRNA mutations causing resistance to macrolides. ..
  4. Lee C, Su Y, Cheng W, Lin M, Wang J, Wu M, et al. Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases. Acta Obstet Gynecol Scand. 2005;84:1134-40 pubmed
    ..The increased percentage of homozygous TT genotypes might contribute to the pathogenesis of valvular PS and PA + IVS. ..
  5. Fang I, Yang C, Yang C, Chen M. Overexpression of integrin alpha6 and beta4 enhances adhesion and proliferation of human retinal pigment epithelial cells on layers of porcine Bruch's membrane. Exp Eye Res. 2009;88:12-21 pubmed publisher
    ..Modification of integrin expression by ex vivo genetic manipulation in RPE might be an alternative strategy to increase the success of RPE transplantation. ..
  6. Lee C, Tung Y, Hsiao P, Lee J, Tsai W. Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era. J Formos Med Assoc. 2010;109:148-55 pubmed publisher
    ..Laboratory tests, including serum 17-hydroxyprogesterone, androstenedione, and testosterone levels are more sensitive than serum cortisol or dehydroepiandrosterone sulfate levels for diagnosing 21-OHD in prepubertal children. ..
  7. Lee H, Tsai F, Lee Y, Yang Y. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P. Mol Genet Metab. 2006;88:372-7 pubmed
    ..Therefore, the CYP21A2 haplotype not only presents a 3.7-kb TaqI fragment but also may possibly exist in multiple forms including both 6.2- and 3.2-kb fragments. ..
  8. Hsieh F, Chang T, Ko T, Wang A. Enhanced specificity of mint geranyl pyrophosphate synthase by modifying the R-loop interactions. J Mol Biol. 2010;404:859-73 pubmed publisher
    ..We conclude that the R-loop may be used not only to conserve the GPPS activity but also to produce portions of C(20)-GGPP in mint. ..
  9. Sheu D, Chen W, Lai Y, Chang R. Mutations derived from the thermophilic polyhydroxyalkanoate synthase PhaC enhance the thermostability and activity of PhaC from Cupriavidus necator H16. J Bacteriol. 2012;194:2620-9 pubmed publisher
    ..The highly thermostable and active PHA synthase will provide advantages for its promising applications to in vitro PHA synthesis and recombinant E. coli PHA fermentation. ..

More Information

Publications79

  1. Lin Y, Chen S, Liu C, Nieh S. The chemoadjuvant potential of grape seed procyanidins on p53-related cell death in oral cancer cells. J Oral Pathol Med. 2012;41:322-31 pubmed publisher
    ..GSP displays chemoadjuvant potential via cell cycle blockage and apoptotic induction. Our findings clearly suggest that GSP may play a role as a novel chemopreventive or therapeutic agent for OSCC. ..
  2. Chang Y, Yeh K, Chang T, Chai C, Lu H, Hsu N, et al. Fast simultaneous detection of K-RAS mutations in colorectal cancer. BMC Cancer. 2009;9:179 pubmed publisher
    ..002 and 0.025). No association was observed between codon 61 and 146 and clinicopathological features. We demonstrated a simple and fast way to identify K-RAS mutation. ..
  3. Chang Y, Chen H, Pan M, Lee B, You S, Lin C, et al. Intratypic variants of human papillomavirus type 16 and risk of cervical neoplasia in Taiwan. J Med Virol. 2013;85:1567-76 pubmed publisher
    ..Molecular mechanisms accounting for varied cervical neoplasia risk among different HPV 16 variants warrant further investigation. ..
  4. Chen R, Chang W, Lin Y, Cheng P, Chen Y. Alzheimer's amyloid-? oligomers rescue cellular prion protein induced tau reduction via the Fyn pathway. ACS Chem Neurosci. 2013;4:1287-96 pubmed publisher
    ..Overall, our results demonstrated that PrP(C) down-regulated tau via the Fyn pathway and the effect can be regulated by A? oligomers. Our study facilitated the understanding of molecular mechanisms among PrP(C), tau, and A? oligomers. ..
  5. Lee H, Hsu L, Yin P, Lee L, Chi C. Heteroplasmic mutation of mitochondrial DNA D-loop and 4977-bp deletion in human cancer cells during mitochondrial DNA depletion. Mitochondrion. 2007;7:157-63 pubmed
    ..Mitochondrial genome instability and reduced mtDNA copy number may independently occur in human cancer. ..
  6. Yu S, Wang T, Au L. Specific repression of mutant K-RAS by 10-23 DNAzyme: sensitizing cancer cell to anti-cancer therapies. Biochem Biophys Res Commun. 2009;378:230-4 pubmed publisher
    ..These results offer a potential of using allele-specific 10-23 DNAzyme in combination with other cancer therapies to achieve better effectiveness on cancer treatment. ..
  7. Lin C, Tsai J, Lo Y, Yan M, Yang S, Lin S. Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel. Eur J Pediatr. 2009;168:1129-33 pubmed publisher
    ..The cautious use of NSAIDs, aggressive correction of hypokalemia, and avoidance of severe volume depletion may prevent the irreversible renal damage in patients with BS due to a Cl- channel defect. ..
  8. Chang T, Lu P, Li H, Chang C, Chen T, Chang L. Characterization of fluoroquinolone resistance mechanisms and their correlation with the degree of resistance to clinically used fluoroquinolones among Escherichia coli isolates. J Chemother. 2007;19:488-94 pubmed
    ..In conclusion, mutations in the QRDR are the primary mechanism for increasing fluoroquinolone resistance, and in combination with efflux pump over-expression, contribute to high-level resistance. ..
  9. Wu Y, Wu C, Chao C, Kuan C, Zhang W, Wang C, et al. Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:229-34 pubmed publisher
    ..67, 95% confidence interval: 0.48-0.94, P = 0.021). The results of Parkin mutation/polymorphism screening may contribute to our understanding of PD. ..
  10. Sung M, Zhang S, Lopez Beltran A, Montironi R, Wang M, Davidson D, et al. Urothelial carcinoma following augmentation cystoplasty: an aggressive variant with distinct clinicopathological characteristics and molecular genetic alterations. Histopathology. 2009;55:161-73 pubmed publisher
    ..UroVysion FISH analysis may offer a surveillance strategy in patients who undergo augmentation cystoplasty. ..
  11. Chang S, Ko W, Kao J, Chang L, Sun H, Chen M, et al. Association of single-nucleotide polymorphism 3 and c.553G>T of APOA5 with hypertriglyceridemia after treatment with highly active antiretroviral therapy containing protease inhibitors in hiv-infected individuals in Taiwan. Clin Infect Dis. 2009;48:832-5 pubmed publisher
    ..553G>T variants or APOA5 SNP1T/SNP2G/SNP3C/c.553T haplotype were statistically significantly associated with development of extreme hypertriglyceridemia (triglyceride level, >500 mg/dL). ..
  12. Hsu L, Ko Y, Wu S, Teng M, Peng T, Chen C, et al. Association between a novel 11-base pair deletion mutation in the promoter region of the scavenger receptor class B type I gene and plasma HDL cholesterol levels in Taiwanese Chinese. Arterioscler Thromb Vasc Biol. 2003;23:1869-74 pubmed
    ..A genetic variant at the SR-BI gene promoter region might explain a significant proportion of individual differences in HDL-C levels among Taiwanese Chinese. Our results require further replication in an independent population. ..
  13. Chang P, Lin Y, Liu K, Yeh S, Ni Y. Risk of hyperbilirubinemia in breast-fed infants. J Pediatr. 2011;159:561-5 pubmed publisher
    ..08 to 138.62; P < .05), and vaginal delivery (3.55; 95% CI, 1.64 to 7.66; P < .001). Breast-fed neonates who are 211 variants in the UGT1A1, G6PD deficiency, and vaginal delivery are at high-risk for hyperbilirubinemia. ..
  14. Lin C, Shieh J. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996;37:115-21 pubmed
    ..8 in infantile patients with Chinese Pompe disease and 0 in normal individuals. These results therefore indicate that Asp-645-->Glu mutation results in infantile form of Pompe disease as the major cause in Chinese patients in Taiwan. ..
  15. Chou M, Yang M. Analyses of binding sequences of the PhaR protein of Rhodobacter sphaeroides FJ1. FEMS Microbiol Lett. 2010;302:138-43 pubmed publisher
    ..These results suggest that PhaR regulates the expression of phaP in R. sphaeroides FJ1...
  16. Shanmugam V, Tsednee M, Yeh K. ZINC TOLERANCE INDUCED BY IRON 1 reveals the importance of glutathione in the cross-homeostasis between zinc and iron in Arabidopsis thaliana. Plant J. 2012;69:1006-17 pubmed publisher
    ..We conclude that glutathione is required for the cross-homeostasis between Zn and Fe in Arabidopsis...
  17. Liang Y, Chang H, Wang C, Yu W. DYRK1A stabilizes HPV16E7 oncoprotein through phosphorylation of the threonine 5 and threonine 7 residues. Int J Biochem Cell Biol. 2008;40:2431-41 pubmed publisher
    ..Our findings suggest that DYRK1A increases the transforming potential of HPV16-infected cells because of the greater stability of HPV16E7...
  18. Wu J, Liu H. In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants. J Biomol Struct Dyn. 2012;29:937-59 pubmed
  19. Chang H, Kuo C. The activation gate and gating mechanism of the NMDA receptor. J Neurosci. 2008;28:1546-56 pubmed publisher
    ..g., A652E(NR1)+A651R(NR2B)]. The side chain of A7 thus plays a determinant role in the intersubunit distance at this level, which is directly responsible for the activation gate and activation-deactivation gating of the NMDA receptor. ..
  20. Hung C, Lee C, Chang C, Jong Y, Chen C, Hsieh W, et al. Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. Clin Biochem. 2008;41:162-6 pubmed publisher
    ..It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene...
  21. Lin M, Chi M, Naveen V, Li Y, Lin L, Hsiao C. Bacillus licheniformis trehalose-6-phosphate hydrolase structures suggest keys to substrate specificity. Acta Crystallogr D Struct Biol. 2016;72:59-70 pubmed publisher
    ..Mutation of these residues resulted in significant decreases in the enzymatic activity of BlTreA. Strikingly, the (281)HHLK(284) motif and Lys292 play critical roles in substrate discrimination by BlTreA. ..
  22. Jeng Y, Hsu H. KLF6, a putative tumor suppressor gene, is mutated in astrocytic gliomas. Int J Cancer. 2003;105:625-9 pubmed
    ..We conclude that mutations of the KLF6 gene play a role in the pathogenesis of astrocytic gliomas. ..
  23. Liu R, Hou C, You H, Huang C, Hock Liew -, Chou F, et al. Selective occurrence of ras mutations in benign and malignant thyroid follicular neoplasms in Taiwan. Thyroid. 2004;14:616-21 pubmed
    ..The selective occurrence of ras mutations in benign and malignant follicular neoplasms indicates that ras gene alterations have a specific and early role in the development of follicular type of thyroid tumors in Taiwan. ..
  24. Tang K, Yang H, Choo K, Lin H, Fang S, Braverman L. A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. Eur J Endocrinol. 1999;141:374-8 pubmed
  25. Yu L, Twu Y, Chang C, Lin M. Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. J Biol Chem. 2001;276:10247-52 pubmed
    ..The segment contains all of the known positions responsible for characterizing different Kell antigens, and this explains the lack of all Kell antigens in Ko red cells. ..
  26. Yang C, Su Y, Chiou P, Fietz M, Yu C, Hwu W, et al. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. J Neurol Neurosurg Psychiatry. 2005;76:592-5 pubmed
    ..These are the first NPC1 mutations reported from Chinese patients with NPC. ..
  27. Lin K, Chern C, Chu P, Chang C, Wang H, Sheu M, et al. Genetic analysis of recent Taiwanese isolates of a variant of coxsackievirus A24. J Med Virol. 2001;64:269-74 pubmed
    ..The evolutionary rate was re-estimated to be 3 x 10(- 3) 30 years after the emergence of the virus...
  28. Lee Y, Chang C, Kuo C, Chen M, Yu C, Lin P, et al. Subunit oligomerization and substrate recognition of the Escherichia coli ClpYQ (HslUV) protease implicated by in vivo protein-protein interactions in the yeast two-hybrid system. J Bacteriol. 2003;185:2393-401 pubmed
    ..Thus, we demonstrated in vivo hetero- and homointeractions of ClpQ and ClpY molecules, as well as a direct association between ClpY and substrate SulA, thereby supporting previous in vitro biochemical findings...
  29. Pan H, Agate D, King B, Wu M, Roderick S, Leiter E, et al. A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein. FEBS Lett. 2006;580:5953-8 pubmed
    ..Consistent with the structure-based predictions, functional studies demonstrated that Arg120His PC-TP was inactive, suggesting that this mutation contributes to the deficiencies in phosphatidylcholine metabolism observed in NZO mice. ..
  30. Kao H, Cheng C, Chen Y, Hung S, Huang C, Millington D, et al. ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit. Hum Mol Genet. 2006;15:3569-77 pubmed
    ..This mouse model will be useful to further investigate the mechanisms underlying arrhythmogenesis relating to lipotoxic cardiomyopathy and to investigate pathophysiology and treatment strategies for human MTP deficiency. ..
  31. Chen L, Ko T, Chang Y, Lin K, Chang C, Wang A, et al. Crystal structure of the left-handed archaeal RadA helical filament: identification of a functional motif for controlling quaternary structures and enzymatic functions of RecA family proteins. Nucleic Acids Res. 2007;35:1787-801 pubmed
    ..These observations support the hypothesis that RecA family protein filaments may function as rotary motors...
  32. Chang J, Liu J, Juang S, Liu T, Chen L. Novel mutation of topoisomerase I in rendering cells resistant to camptothecin. Cancer Res. 2002;62:3716-21 pubmed
    ..Therefore, quantitative and qualitative changes in Top I were responsible for CPT resistance in CPT30 cells. CPT resistance in CPT30R cells was caused by mutation of Top I. ..
  33. Sung C, Cheng C, Lo Y, Lin M, Yang S, Hsu Y, et al. Genotype and phenotype analysis of patients with sporadic periodic paralysis. Am J Med Sci. 2012;343:281-5 pubmed publisher
  34. Ueng Y, Chen C, Chung Y, Liu T, Chang Y, Lo W, et al. Mechanism-based inhibition of cytochrome P450 (CYP)2A6 by chalepensin in recombinant systems, in human liver microsomes and in mice in vivo. Br J Pharmacol. 2011;163:1250-62 pubmed publisher
    ..Formation of an epoxide could be a key step in this inactivation. 'Poor metabolizers' carrying CYP2A6*7 or *10 may be less susceptible to inhibition by chalepensin. Given in vivo, chalepensin decreased CYP2A activity in mice. ..
  35. Chiu Y, Chang Y, Chang Y, Niu D, Yang Y, Ye J, et al. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. J Hum Genet. 2012;57:145-52 pubmed publisher
    ..In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified. ..
  36. Chang C, Lin S, Su W, Ho C, Jou Y. Somatic LMCD1 mutations promoted cell migration and tumor metastasis in hepatocellular carcinoma. Oncogene. 2012;31:2640-52 pubmed publisher
    ..Together, our results suggest that LMCD1 mutations are potential oncogenic events in HCC metastasis to promote cell migration through the Rac1-signaling pathway. ..
  37. Hsu S, Lee M, Hsieh S, Scaravilli F, Hsieh S. Cutaneous and sympathetic denervation in neonatal rats with a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 gene. Neurobiol Dis. 2004;16:335-45 pubmed
    ..In conclusion, there is regional skin denervation with diffuse sympathetic denervation in P7 mf rats. These results suggest that the mutation in Cct4 underlies cutaneous nerve degeneration in mf rats. ..
  38. Hung W, Wu C, Yin P, Chang C, Li A, Chi C, et al. Somatic mutations in mitochondrial genome and their potential roles in the progression of human gastric cancer. Biochim Biophys Acta. 2010;1800:264-70 pubmed publisher
    ..Our results suggest that somatic mtDNA mutations and mitochondrial dysfunction may play an important role in the malignant progression of gastric cancer...
  39. Hou S, Yen F, Cheng C, Tsai S, Hong C. X-box binding protein 1 (XBP1) C--116G polymorphisms in bipolar disorders and age of onset. Neurosci Lett. 2004;367:232-4 pubmed
    ..These negative findings suggest that the XBP1 C--116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations. ..
  40. Su C, Lan K, Li C, Chao Y, Lin H, Lee S, et al. Phosphorylation accelerates geldanamycin-induced Akt degradation. Arch Biochem Biophys. 2013;536:6-11 pubmed publisher
    ..In this report, we show that GA-mediated transient activation of Akt accelerates its association with the E3 ligase CHIP (C-terminal Hsp70-interacting protein)-mediated ubiquitination and subsequent proteasome degradation. ..
  41. Chu P, Huang L, Hsu C, Liang C, Guan J, Hung T, et al. Tyrosine phosphorylation of growth factor receptor-bound protein-7 by focal adhesion kinase in the regulation of cell migration, proliferation, and tumorigenesis. J Biol Chem. 2009;284:20215-26 pubmed publisher
    ..Our data provide a better understanding on the signal transduction event for FAK*Grb7-mediated cellular functions as well as to shed light on a potential therapeutic in cancers. ..
  42. Cheng H, Jiang M, Chen C, Liu S, Wong L, Lomasney J, et al. Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis. J Biol Chem. 1995;270:5495-505 pubmed
  43. Lin P, Tsai G. Meta-analyses of the association between genetic polymorphisms of neurotrophic factors and schizophrenia. Schizophr Res. 2004;71:353-60 pubmed
    ..These results suggested that the variations at the NT3 and the CNTF genes do not influence the schizophrenia risk, but a role in the susceptibility of subgroups of the patients cannot be excluded. ..
  44. Jeng J, Yeh T, Lee J, Lin S, Fong T, Hsieh R. Maintenance of mitochondrial DNA copy number and expression are essential for preservation of mitochondrial function and cell growth. J Cell Biochem. 2008;103:347-57 pubmed
    ..These experimental results provide direct evidence to substantiate that downregulation of mtDNA copy number and expression may compromise mitochondrial function and subsequent cell growth and morphology. ..
  45. Tsai W, Lo G, Hsu P, Lai K, Lin C, Chan H, et al. Role of genotype and precore/basal core promoter mutations of hepatitis B virus in patients with chronic hepatitis B with acute exacerbation. Scand J Gastroenterol. 2008;43:196-201 pubmed publisher
    ..HBV precore mutation may confer less severe liver disease during acute exacerbation of chronic HBV. Genotype and BCP mutations did not have a significant association with the occurrence of hepatic decompensation. ..
  46. Wang Y, Bai Y, Chen J, Lin C, Lai I, Liou Y. Polymorphism of the adrenergic receptor alpha 2a -1291C>G genetic variation and clozapine-induced weight gain. J Neural Transm (Vienna). 2005;112:1463-8 pubmed
    ..45 +/- 7.2 Kg) with higher mean body weight gain than genotype CC (2.79 +/- 6.1 Kg) (p = 0.023). The finding identify a genetic factor associated with clozapine-induced weight gain in schizophrenic patients. ..
  47. Liu Y, Chen W, Lin Y, Yang R, Lin M, Li L, et al. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005;352:2294-301 pubmed
    ..Most cases of ANFH are sporadic, but we identified three families in which there was autosomal dominant inheritance of the disease and mapped the chromosomal position of the gene to 12q13...
  48. Hsiao P, Lin S, Chiang S, Wu Y, Chen H, Lin Y. NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formos Med Assoc. 2010;109:192-200 pubmed publisher
    ..Mutational analysis of the NEMO gene was helpful in diagnosing incontinentia pigmenti among participants with a nearly normal phenotype or an incomplete form of the disease that only caused hyperpigmentation symptoms. ..
  49. Wong R, Du C, Wang J, Chan C, Luo J, Cheng T. XRCC1 and CYP2E1 polymorphisms as susceptibility factors of plasma mutant p53 protein and anti-p53 antibody expression in vinyl chloride monomer-exposed polyvinyl chloride workers. Cancer Epidemiol Biomarkers Prev. 2002;11:475-82 pubmed
    ..Our results suggest that susceptible XRCC1 and CYP2E1 genotypes may modulate the mutation of the p53 gene among VCM-exposed workers. ..
  50. Chuang T, Lee K, Lou Y, Lu C, Tarn W. A Point Mutation in the Exon Junction Complex Factor Y14 Disrupts Its Function in mRNA Cap Binding and Translation Enhancement. J Biol Chem. 2016;291:8565-74 pubmed publisher
    ..These results reveal a residue of Y14 that confers cap-binding activity and is essential for Y14-mediated enhancement of translation. Finally, we demonstrated that Y14 may selectively and differentially modulate protein biosynthesis. ..
  51. Wang H, Shih Y, Chen C, Chao H, Lee M, Hsueh Y. Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. J Clin Invest. 2011;121:4820-37 pubmed publisher
    ..The data presented here demonstrate that there is a link between IBMPFD and NF1 and indicate a role for VCP in synapse formation...
  52. Chen R, Huang C, Lee C, Wai Y, Hsi M, Pang C, et al. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand. 1993;87:494-8 pubmed
    ..In this report, we document the fluctuating CT changes and emphasize the importance of molecular analysis in patients with overlapping syndrome of mitochondrial encephalomyopathies...
  53. Shieh J, Lin C. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. Hum Mutat. 1998;11:306-12 pubmed
    ..95 and 0.17, respectively (P<0.005, chi2 = 66.018). This result suggests that the C1935A mutation in Chinese patients with infantile form of GSD II is due to the founder effect. ..
  54. Chen C, Chern S, Wang T, Wang W, Wang K, Jeng C. Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod. 1999;14:664-70 pubmed
  55. Tsai J, Yang P, Lin H, Cheng K, Yang Y, Wu M, et al. Association between GABA(A) receptor subunit gene cluster and zolpidem-induced complex sleep behaviors in Han Chinese. Sleep. 2013;36:197-202 pubmed publisher
    ..99, 95% CI = 1.82, 74.87; P = 0.013). The finding reveals that the A15G variant at the GABA(A) ?1 receptor subunit gene confers a high risk of zolpidem-induced CSBs and may be considered in clinical services. ..
  56. Wang Y, Tu P, Lin K, Lin S, Ko J, Jou Y. Identification of oncogenic point mutations and hyperphosphorylation of anaplastic lymphoma kinase in lung cancer. Neoplasia. 2011;13:704-15 pubmed
    ..Furthermore, targeting oncogenic mutant ALKs with inhibitors could be a promising strategy to improve the therapeutic efficacy of fatal lung cancers. ..
  57. Tjiu J, Lin P, Wu W, Cheng Y, Chiu H, Thong H, et al. SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. Br J Dermatol. 2011;164:47-53 pubmed publisher
    ..Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. The presence of wild-type SLURP-1 is essential for normal T-cell activation. ..
  58. Shih J, Tsai T, Chao C, Wu Lee Y. Candidate tumor suppressor DDX3 RNA helicase specifically represses cap-dependent translation by acting as an eIF4E inhibitory protein. Oncogene. 2008;27:700-14 pubmed
    ..Altogether, this study demonstrates regulatory roles and action mechanisms for DDX3 in translation, cell growth and likely viral replication. ..
  59. Chou Y, Ou C, Hsu T, Liou C, Lee C, Tso D, et al. Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome. Prenat Diagn. 2004;24:367-70 pubmed
    ..The phenotypic diversity in two offspring with similar higher levels of mutant mtDNA suggests that prenatal genetic diagnosis of cultured amniotic cells may yield results that are poor prognosticators of fetal outcome...
  60. Mao C, Holt I. Clinical and molecular aspects of diseases of mitochondrial DNA instability. Chang Gung Med J. 2009;32:354-69 pubmed
    ..This report should help medical staff understand the complexity of these diseases and encourage them in further investigations. ( ..
  61. Huang C, Wang T, Lin B, Wang Y, Johnson S, Yu J. Collagen IX is required for the integrity of collagen II fibrils and the regulation of vascular plexus formation in zebrafish caudal fins. Dev Biol. 2009;332:360-70 pubmed publisher
  62. Chang Y, Ko T, Lee C, Chang Y, Lin K, Chang C, et al. Three new structures of left-handed RADA helical filaments: structural flexibility of N-terminal domain is critical for recombinase activity. PLoS ONE. 2009;4:e4890 pubmed publisher
    ..These results support our previous hypothesis that ATP-dependent axial rotation of RadA nucleoprotein helical filament promotes homologous recombination. ..
  63. Wang P, Chang W, Lu C, Chao D, Schrag C, Pan T. New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools. Proteomics. 2006;6:1029-37 pubmed
    ..This is the first paper to integrate both genomic and proteomic concepts for analyzing the possible mechanism of CTX and provides more information for related study in the future. ..
  64. Chang S, Leu J. A tradeoff drives the evolution of reduced metal resistance in natural populations of yeast. PLoS Genet. 2011;7:e1002034 pubmed publisher
    ..Our results provide a rare example of a selective sweep in yeast populations driven by a tradeoff in metal resistance. ..
  65. Lee H, Yang C, Chen C, Au L. Single point mutation of microRNA may cause butterfly effect on alteration of global gene expression. Biochem Biophys Res Commun. 2011;404:1065-9 pubmed publisher
    ..Provided that over 800 miRNAs have been identified in humans to date, mutation of miRNA is expected to play a critical role in species evolution and individual diversity. ..
  66. Lin C, Huang J, Wu C, Hsu C, Chaw S. Comparative chloroplast genomics reveals the evolution of Pinaceae genera and subfamilies. Genome Biol Evol. 2010;2:504-17 pubmed publisher
    ..Specifically, our views on subfamilial classifications differ from previous studies in terms of the rank of Cedrus and with recognition of more than two subfamilies...
  67. Hong C, Lai I, Liou L, Tsai S. Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder. Neurosci Lett. 2004;355:69-72 pubmed
    ..Determination of the functional impact of the -2 bp variant in the nervous system and, in particular, the effect of harboring more than two alleles of the -2 bp deletion needs further exploration. ..
  68. Huang C, Chang S, Yang H, Chien C, Chang M. Clathrin-mediated post-Golgi membrane trafficking in the morphogenesis of hepatitis delta virus. J Virol. 2009;83:12314-24 pubmed publisher
    ..Thus, the clathrin box and the nuclear export signal at the C terminus of HDAg-L are potential new molecular targets for HDV therapy. ..
  69. Hong C, Liu H, Liu T, Liao D, Tsai S. Association studies of the adenosine A2a receptor (1976T > C) genetic polymorphism in Parkinson's disease and schizophrenia. J Neural Transm (Vienna). 2005;112:1503-10 pubmed
    ..Our findings suggest that it is unlikely that the A2aAR 1976T > C polymorphism plays a major role in the pathogenesis of PD, schizophrenia, or antipsychotic-induced tardive dyskinesia in the Chinese population. ..
  70. Wright J, Lim C. Mechanism of DNA-binding loss upon single-point mutation in p53. J Biosci. 2007;32:827-39 pubmed