Experts and Doctors on mutation in Seoul, South Korea


Locale: Seoul, South Korea
Topic: mutation

Top Publications

  1. Kim S, Kim U, Chae J, Kim D, Oh H, Kim B, et al. Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis. Nephrol Dial Transplant. 2001;16:939-44 pubmed
    ..However, there are few reports about the mutations of CACNA1S gene in other races...
  2. Eo H, Lee J, Ahn C, Cho J, Hwang D, Hwang Y, et al. Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. Clin Genet. 2002;62:169-74 pubmed
    ..Our findings indicate that many different PKD1 mutations are likely to be responsible for ADPKD in the Korean population, as in the Western population. ..
  3. Lee J, Lim C, Lee S, Kim H, Nukina N, Kaang B. Aggregate formation and the impairment of long-term synaptic facilitation by ectopic expression of mutant huntingtin in Aplysia neurons. J Neurochem. 2003;85:160-9 pubmed
    ..This study demonstrates the stability of polyQ-based aggregates and their specific effects on long-term synaptic plasticity. ..
  4. Kim C, Hwang H, Song S, Paik K, Kwon E, Moon K, et al. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum Mutat. 2003;21:449-50 pubmed
    ..We hope that these findings will further the understanding of the underlying mechanisms associated with the disease...
  5. Lee B, Han J, Im J, Morrone A, Johung K, Goodwin E, et al. Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell. 2006;5:187-95 pubmed
    ..SA-beta-gal induction during senescence was due at least in part to increased expression of the lysosomal beta-galactosidase protein. These results also indicate that SA-beta-gal is not required for senescence. ..
  6. Lee S, Cho N, Choi M, Yoo E, Kim J, Kang G. Clinicopathological features of CpG island methylator phenotype-positive colorectal cancer and its adverse prognosis in relation to KRAS/BRAF mutation. Pathol Int. 2008;58:104-13 pubmed publisher
  7. Han J, Ahn Y, Choi K, Hong S. Involvement of AMP-activated protein kinase and p38 mitogen-activated protein kinase in 8-Cl-cAMP-induced growth inhibition. J Cell Physiol. 2009;218:104-12 pubmed publisher
    ..These results demonstrate that 8-Cl-cAMP induced growth inhibition through AMPK activation and p38 MAPK acts downstream of AMPK in this signaling pathway. ..
  8. Kim S, Ko H, Yu Y, Hwang J, Lee J, Kim S, et al. Molecular genetic characteristics of X-linked retinoschisis in Koreans. Mol Vis. 2009;15:833-43 pubmed
    ..Many genetic studies had focused on the patients in Western countries. We characterized the mutational spectrum of the RS1 gene in Korean patients with XLRS, and aimed to provide genetic information of XLRS in an Asian population...
  9. Jang Y, Lim S, Kim M, Chung H, Yoo H, Byeon J, et al. Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet. 2010;200:34-9 pubmed publisher
    ..4612_4613delGA) were detected. The MUTYH mutation was not detected in any of the four FAP patients without an APC mutation. This finding of three novel mutations in a group of Korean FAP patients broadens the spectrum of APC mutations. ..

More Information

Publications502 found, 100 shown here

  1. Park M, Cho S, Lee H, Sibley C, Rhie H. Alternative thymidylate synthase, ThyX, involved in Corynebacterium glutamicum ATCC 13032 survival during stationary growth phase. FEMS Microbiol Lett. 2010;307:128-34 pubmed publisher
  2. Lee S, Kodaki T, Park Y, Seo J. Effects of NADH-preferring xylose reductase expression on ethanol production from xylose in xylose-metabolizing recombinant Saccharomyces cerevisiae. J Biotechnol. 2012;158:184-91 pubmed publisher
    ..25 g l?¹ h?¹ ethanol productivity and 39% ethanol yield based on the xylose consumed, which were 1.8, 4.2 and 2.2 times higher than the corresponding values of recombinant S. cerevisiae expressing XR(MUT), XDH and XK only. ..
  3. Lee B, Cho H, Lee H, Han K, Kang H, Ha I, et al. Genetic basis of Bartter syndrome in Korea. Nephrol Dial Transplant. 2012;27:1516-21 pubmed publisher
  4. Jeong H, Kim Y, Kim S, Kim Y, Lee I, Kim Y, et al. Nonsense-mediated mRNA decay factors, UPF1 and UPF3, contribute to plant defense. Plant Cell Physiol. 2011;52:2147-56 pubmed publisher
    ..Taken together, our results suggest that UPF1 and UPF3, which are key NMD factors, may act as defense-related regulators associated with plant immunity. ..
  5. Goo E, Majerczyk C, An J, Chandler J, Seo Y, Ham H, et al. Bacterial quorum sensing, cooperativity, and anticipation of stationary-phase stress. Proc Natl Acad Sci U S A. 2012;109:19775-80 pubmed publisher
  6. Ko S, Kim B, Kwon S, Kim K, Kim J, Choe W, et al. Clonal evolution of hepatitis B virus polymerase gene mutations during lamivudine-adefovir combination treatment. World J Gastroenterol. 2012;18:6437-46; discussion p.6445 pubmed publisher
    ..Add-on lamivudine therapy with adefovir for adefovir resistance may not suppress the pre-existing adefovir-resistant mutation that develops during lamivudine-adefovir sequential monotherapy. ..
  7. Seo J, Lee K, Yoo K, Sung K, Koo H, Kim S, et al. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. Clin Genet. 2016;89:222-7 pubmed publisher
    ..Lys193Gln substitution. The frequency of FHL5 was ~1% (1/72) in Korean pediatric patients with HLH. This is the first study on FHL5 in Korea, and the data from a nationwide patient cohort provide another piece of genetic profiles of FHL. ..
  8. Nik Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534:47-54 pubmed publisher
  9. Park C, Dutton D, Hazelbauer G. Effects of glutamines and glutamates at sites of covalent modification of a methyl-accepting transducer. J Bacteriol. 1990;172:7179-87 pubmed
    ..These defects were evident for cells in which other transducers were not available to contribute to balanced signaling or were present at lower levels than the mutant proteins. ..
  10. Yoo H, Kim G, Lee D. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. J Inherit Metab Dis. 1996;19:31-42 pubmed
    ..This missense mutation has been described previously and is known to eliminate a TaqI recognition site in exon 5...
  11. Lee S, Park S, Oh K, Hong S, Kim S. Improvement for the production of clavulanic acid by mutant Streptomyces clavuligerus. Lett Appl Microbiol. 2002;34:370-5 pubmed
    ..Clavulanic acid decomposition was considerably reduced as a result of the pH shift control. The results of this study can be applied for the efficient production of beta-lactamase inhibitory antibiotics. ..
  12. Kim D, Kim Y, Kim S, Kim S, Zylstra G, Kim Y, et al. Monocyclic aromatic hydrocarbon degradation by Rhodococcus sp. strain DK17. Appl Environ Microbiol. 2002;68:3270-8 pubmed
  13. Choi K, Kim S, Kim S, Kim M, Hyun Y, Lee H, et al. SUPPRESSOR OF FRIGIDA3 encodes a nuclear ACTIN-RELATED PROTEIN6 required for floral repression in Arabidopsis. Plant Cell. 2005;17:2647-60 pubmed
    ..Subcellular localization using a green fluorescent protein fusion showed that Arabidopsis ARP6 is located at distinct regions of the nuclear periphery. ..
  14. Park B, Lee S, Kim E, Cho K, Riddell S, Cho S, et al. Redox regulation facilitates optimal peptide selection by MHC class I during antigen processing. Cell. 2006;127:369-82 pubmed publisher
    ..These results establish a link between thiol-based redox regulation and antigen processing...
  15. Kang S, Kang H, Shin J, Kim H, Shin D, Kim S, et al. Identical epidermal growth factor receptor mutations in adenocarcinomatous and squamous cell carcinomatous components of adenosquamous carcinoma of the lung. Cancer. 2007;109:581-7 pubmed
    ..Attempts to investigate the EGFR mutation status in each component of adenosquamous carcinoma and to characterize the patients according to mutation status may help to understand the histogenesis of adenosquamous carcinoma...
  16. Jeong Y, Mun J, Kim H, Lee S, Kim S. An upstream region in the first intron of petunia actin-depolymerizing factor 1 affects tissue-specific expression in transgenic Arabidopsis (Arabidopsis thaliana). Plant J. 2007;50:230-9 pubmed
    ..In addition, we have also shown that intron-mediated enhancement is a conserved mechanism, which regulates the expression of the petunia and Arabidopsis ADF genes that are expressed in vegetative tissues...
  17. Yoon J, Park H, Yoo S, Namkung W, Jo M, Koo S, et al. Heterogeneity in the processing defect of SLC26A4 mutants. J Med Genet. 2008;45:411-9 pubmed publisher
    ..These results indicate that the processing of pendrin mutant protein is determined by mutant specific mechanisms, and that a mutant specific method would be required to rescue the conformational defects of each folding mutant. ..
  18. Kwon M, Boo S, Kim H, Cho Y, Chung W, Hong S. A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. Acta Otolaryngol. 2009;129:688-93 pubmed publisher
    ..To the best of our knowledge, this is the first report of a splice site mutation in a family with BO syndrome without renal involvement, further extending the phenotypic-genotypic heterogeneity of BOR/BO syndrome. ..
  19. Xi H, Park J, Ding G, Lee Y, Li Y. SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. Nucleic Acids Res. 2009;37:D913-20 pubmed publisher
    ..Based on this system, SysPIMP will be the platform for efficiently and intensively studying human diseases caused by mutation. ..
  20. Lee Y, Chung Y, Kim J, Kim S, Shin J, Kim K, et al. Hepatitis B virus with the rtL80V/I mutation is associated with a poor response to adefovir dipivoxil therapy. Liver Int. 2009;29:552-6 pubmed publisher
    ..These results provide evidence that rtL80V/I variants of HBV may be associated with a poor antiviral response to ADV in CHB patients with YMDD mutants. ..
  21. Hussain Z, Jung H, Ryu D, Ryu W. Genetic dissection of naturally occurring basal core promoter mutations of hepatitis B virus reveals a silent phenotype in the overlapping X gene. J Gen Virol. 2009;90:2272-81 pubmed publisher
    ..Therefore, it was concluded that these BCP mutations do not affect expression of the overlapping X gene or impair its stimulatory effect on viral genome replication. ..
  22. Kim Y, Song S, Kim S, An C, Lee S, Yoo N. Mutational and expressional analysis of RFC3, a clamp loader in DNA replication, in gastric and colorectal cancers. Hum Pathol. 2010;41:1431-7 pubmed publisher
    ..Our data indicate RFC3 mutation and loss of RFC3 expression occur in large fractions of GC and CRC and suggest that these alterations may contribute to the cancer pathogenesis by deregulating DNA repair and replication. ..
  23. Park J, Park S, Nepal K, Han A, Ban Y, Yoo Y, et al. Discovery of parallel pathways of kanamycin biosynthesis allows antibiotic manipulation. Nat Chem Biol. 2011;7:843-52 pubmed publisher
    ..These results complete our understanding of kanamycin biosynthesis and demonstrate the potential of pathway engineering for direct in vivo production of clinically useful antibiotics and more robust aminoglycosides. ..
  24. Kim S, Kim T, Kim D, Go H, Keam B, Lee S, et al. Heterogeneity of genetic changes associated with acquired crizotinib resistance in ALK-rearranged lung cancer. J Thorac Oncol. 2013;8:415-22 pubmed publisher
    ..Genetic changes associated with crizotinib resistance are heterogeneous in ALK-rearranged NSCLC patients who respond to crizotinib and subsequently develop resistance. ..
  25. Kim W, Park T, Yoo S, Jun A, Ahn J. Generation and analysis of a complete mutant set for the Arabidopsis FT/TFL1 family shows specific effects on thermo-sensitive flowering regulation. J Exp Bot. 2013;64:1715-29 pubmed publisher
    ..This study proposes that this mutant population will be useful in further investigation of the functions of the FT/TFL1 family genes in plant development. ..
  26. Pyo J, Kang G, Kim D, Chae S, Park C, Kim K, et al. Activation of nuclear factor-κB contributes to growth and aggressiveness of papillary thyroid carcinoma. Pathol Res Pract. 2013;209:228-32 pubmed publisher
    ..The expression pattern of NF-κB may serve as a prognostic marker and a potential therapeutic target. ..
  27. Jeong Y, Shim J, Oh S, Yoon H, Kim C, Moon S, et al. An odorant-binding protein required for suppression of sweet taste by bitter chemicals. Neuron. 2013;79:725-37 pubmed publisher
    ..These findings demonstrate an unexpected role for an OBP in taste and identify a molecular player involved in the integration of opposing attractive and aversive gustatory inputs. ..
  28. Jung E, Seong Y, Seo J, Kwon Y, Song H. Cell cycle-dependent regulation of Aurora kinase B mRNA by the Microprocessor complex. Biochem Biophys Res Commun. 2014;446:241-7 pubmed publisher
    ..Thus, we propose a novel mechanism by which the Microprocessor complex regulates stability of Aurora kinase B mRNA and cell cycle progression. ..
  29. Luchini C, Veronese N, Solmi M, Cho H, Kim J, Chou A, et al. Prognostic role and implications of mutation status of tumor suppressor gene ARID1A in cancer: a systematic review and meta-analysis. Oncotarget. 2015;6:39088-97 pubmed publisher
    ..For its role, this gene should be considered as an important potential target for personalized medicine in cancer treatment. ..
  30. Hwang B, Kim Y, Kim H, Hwang H, Kim J, Lee H. Analysis of Corynebacterium glutamicum methionine biosynthetic pathway: isolation and analysis of metB encoding cystathionine gamma-synthase. Mol Cells. 1999;9:300-8 pubmed
    ..The growth rate of the mutant strain was also comparable to that of the parental strain. These data indicate that, in addition to the transsulfuration pathway, other methionine biosynthetic pathways may be present in C. glutamicum. ..
  31. Cho I, Kim S. Oltipraz inhibits 3-methylcholanthrene induction of CYP1A1 by CCAAT/enhancer-binding protein activation. J Biol Chem. 2003;278:44103-12 pubmed
    ..These results provide evidence that oltipraz suppresses 3-MC induction of CYP1A1 gene expression and that activation of C/EBPbeta by oltipraz contributes to suppression of 3-MC-inducible AhR-mediated CYP1A1 expression. ..
  32. Han S, Park K, Lee G, Huh Y, Min B. Mutation and aberrant expression of Caveolin-1 in human oral squamous cell carcinomas and oral cancer cell lines. Int J Oncol. 2004;24:435-40 pubmed
    ..These results provide genetic evidence showing that the inactivation of Caveolin-1 by a mutation or by reduced expression may play a role in the pathogenesis of oral cancer. ..
  33. Lee G, Kim C, Kim J, Jung H, Song I. [Frequency analysis of NOD2 gene mutations in Korean patients with Crohn's disease]. Korean J Gastroenterol. 2005;45:162-8 pubmed
    ..Our results indicate that although three NOD2 mutations are associated with susceptibility to CD in Western populations, these might be rare and may not be associated with susceptibility to CD in Korean patients. ..
  34. Sung J, Lee H, Jeong E, Oh Y, Park J, Kang K, et al. Alpha-synuclein overexpression reduces gap junctional intercellular communication in dopaminergic neuroblastoma cells. Neurosci Lett. 2007;416:289-93 pubmed
    ..These findings suggest that alpha-synuclein can modulate GJIC in a dopaminergic neuronal cell line through specific binding to Cx32. ..
  35. Kim M, Jeong E, Chae B, Lee J, Soung Y, Nam S, et al. Pro-apoptotic PUMA and anti-apoptotic phospho-BAD are highly expressed in colorectal carcinomas. Dig Dis Sci. 2007;52:2751-6 pubmed
  36. Cheong H, Cho H, Kim J, Yu Y, Ha I, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol. 2007;22:1283-9 pubmed
    ..VUR is not a cardinal renal manifestation of RCS. The possibility of germline mosaicism should be considered during molecular diagnosis and genetic counseling for PAX2 mutations. ..
  37. Choi Y, Choi Y, Cho E, Shin Y, Sung K, Hwang Y, et al. Expression of Bmi-1 protein in tumor tissues is associated with favorable prognosis in breast cancer patients. Breast Cancer Res Treat. 2009;113:83-93 pubmed publisher
    ..Bmi-1 expression assessed with Immunohistochemistry may be associated with favorable overall survival in breast cancer patients, especially in patients with ER-positive breast cancer. ..
  38. Yum M, Ko T, Yoo H, Chung S. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations. Pediatr Neurol. 2008;38:367-9 pubmed publisher
    ..One child exhibits a novel sporadic mutation, and the other child demonstrates autosomal-dominant inheritance. ..
  39. Mok J, Kim H, Joo C. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye (Lond). 2009;23:895-903 pubmed publisher
    ..Our data constitute the first report of a heterozygous Q455V mutation of the COL8A2 gene in Korean patients with FECD. Q455V may be the causative defect in the development and progression of Korean FECD patients. ..
  40. Baek I, Kim J, Cho K, Cha D, Cho J, Park J, et al. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. Mamm Genome. 2009;20:350-8 pubmed publisher
    ..In the present study we describe the phenotype, histological morphology, and molecular etiology of an animal model of MUHH, the hairpoor mouse. ..
  41. Kim J, Roh S, Cho D, Kim T, Yoon S, Kim C, et al. Chemoresponsiveness associated with canonical molecular changes in colorectal adenocarcinomas. Anticancer Res. 2009;29:3115-23 pubmed
  42. Hwang J, Shin J, Han B, Ko E, Kang S, Kim J, et al. Papillary thyroid carcinoma with BRAFV600E mutation: sonographic prediction. AJR Am J Roentgenol. 2010;194:W425-30 pubmed publisher
    ..However, these findings are not specific enough to predict the presence or absence of the BRAF(V600E) mutation of a papillary thyroid carcinoma. ..
  43. Mun H, Lee S, Kim H, Hwang E, Kook Y, Kim B. Novel F141L pre-S2 mutation in hepatitis B virus increases the risk of hepatocellular carcinoma in patients with chronic genotype C infections. J Virol. 2011;85:123-32 pubmed publisher
    ..So, the F141L mutation examined in this study could serve as a diagnostic marker for the prognosis of HCC. ..
  44. Lee E, Song K, Kim D, Jang Y, Hwang T, Kim S. The BRAF(V600E) mutation is associated with malignant ultrasonographic features in thyroid nodules. Clin Endocrinol (Oxf). 2011;75:844-50 pubmed publisher
    ..The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules. ..
  45. Kim B, Hwang J, Kim M, Choi S. Cooperative regulation of the Vibrio vulnificus nan gene cluster by NanR protein, cAMP receptor protein, and N-acetylmannosamine 6-phosphate. J Biol Chem. 2011;286:40889-99 pubmed publisher
    ..The combined results propose a model in which NanR, CRP, and N-acetylmannosamine 6-phosphate cooperate for precise adjustment of the expression level of the V. vulnificus nan cluster. ..
  46. Kim S, Ryu M, Kim W. Suppression of Arabidopsis RING-DUF1117 E3 ubiquitin ligases, AtRDUF1 and AtRDUF2, reduces tolerance to ABA-mediated drought stress. Biochem Biophys Res Commun. 2012;420:141-7 pubmed publisher
    ..These results are discussed in the context that AtRDUF1 and AtRDUF2 play combinatorial, but still distinguishable, roles in ABA-mediated dehydration stress responses. ..
  47. Park S, Mun H, Eom Y, Baek H, Jung T, Kim C, et al. Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914. Clin Endocrinol (Oxf). 2013;78:687-93 pubmed publisher
    ..Further clinical study will be needed to validate the effectiveness of calcilytics in treatment of ADH in vivo. ..
  48. Kim H, Kwon S, Jang Y, Nam M, Chung J, Na Y, et al. GDSL LIPASE1 modulates plant immunity through feedback regulation of ethylene signaling. Plant Physiol. 2013;163:1776-91 pubmed publisher
    ..We propose a model explaining how GLIP1 regulates the fine-tuning of ethylene signaling and ethylene-salicylic acid cross talk. ..
  49. Seol H, Kang H, Kang H, Lee S, Kim N, Kim T, et al. Development and characterization of a colon PDX model that reproduces drug responsiveness and the mutation profiles of its original tumor. Cancer Lett. 2014;345:56-64 pubmed publisher
    ..We thus present an effective, reproducible preclinical model for testing various personalized therapeutic options in colon cancer patients. ..
  50. Jang Y, Moon S, Kim J, Lee I, Lee J, Kim H. A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex. Korean J Intern Med. 2015;30:730-4 pubmed publisher
  51. Cho A, Hur J, Moon Y, Hong S, Suh Y, Kim Y, et al. Correlation between EGFR gene mutation, cytologic tumor markers, 18F-FDG uptake in non-small cell lung cancer. BMC Cancer. 2016;16:224 pubmed publisher
    ..The cytologic tumor marker c-CYFRA was positively associated with EGFR mutations in NSCLC. EGFR mutation-positive NSCLCs have relatively lower glycolysis compared with NSCLCs without EGFR mutation. ..
  52. Jung Y, Lee J, Agrawal G, Rakwal R, Kim J, Shim J, et al. The rice (Oryza sativa) blast lesion mimic mutant, blm, may confer resistance to blast pathogens by triggering multiple defense-associated signaling pathways. Plant Physiol Biochem. 2005;43:397-406 pubmed
  53. Oh J, Kim H, Kim H, Kim W, Lee S. Aberrant methylation of p14ARF gene correlates with poor survival in osteosarcoma. Clin Orthop Relat Res. 2006;442:216-22 pubmed
    ..Prognostic study, Level II (retrospective study). See the Guidelines for Authors for a complete description of levels of evidence. ..
  54. Kim K, Kang D, Moon W, Park J, Park C, Sohn J, et al. PKCtheta expression in gastrointestinal stromal tumor. Mod Pathol. 2006;19:1480-6 pubmed
    ..Together with c-kit, PKCtheta immunostaining can be used as an important diagnostic tool in the pathologic diagnosis of gastrointestinal stromal tumors with its high specificity and sensitivity. ..
  55. Lim C, Choi J, Kim I, Lee S, Hwang Y, Lee C, et al. Improved resistance to oxidative stress by a loss-of-function mutation in the Arabidopsis UGT71C1 gene. Mol Cells. 2008;25:368-75 pubmed
  56. Oh H, Kim M, Choi K, Moon S, Park D, Lee S, et al. Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitis. Pancreas. 2009;38:180-3 pubmed publisher
    ..PRSS1 and SPINK1 mutations were not rare in Korean patients with idiopathic and familial pancreatitis. SPINK1 IVS3+2T>C was a prevalent mutation in this population. ..
  57. Lee S, Kim J, Jang S, Kim D, Do Y, Suh G, et al. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. J Korean Med Sci. 2009;24:69-76 pubmed publisher
    ..Despite the small number of patients investigated, we firstly report Korean patients with genetically confirmed HHT, and show the genetic and allelic heterogeneity underlying HHT. ..
  58. Lee M, Paik S, Lee M, Kim Y, Kim S, Nahm M, et al. Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development. Dev Biol. 2009;330:250-62 pubmed publisher
    ..Together, our results suggest that Atl controls synapse development and ER and Golgi morphogenesis by regulating microtubule stability. ..
  59. Ham J, Shin S, Joo K, Park S, Sung H, Kim J, et al. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. Korean J Intern Med. 2009;24:274-8 pubmed publisher
  60. Lee S, Cho K, Cho S, Kim I, Oh C, Ahn K. Protein disulphide isomerase is required for signal peptide peptidase-mediated protein degradation. EMBO J. 2010;29:363-75 pubmed publisher
    ..Together, our data suggest that PDI is a component of the SPP-mediated ER-associated degradation machinery. ..
  61. Jang J, Jung K, Yoo C, Rhie G. Regulation of hemagglutinin/protease expression by the VarS/VarA-CsrA/B/C/D system in Vibrio cholerae. Microb Pathog. 2010;48:245-50 pubmed publisher
    ..cholerae 2740-80 through HapR regulation, and also that VarS/VarA controls expression of sigma(s) for HapA regulation. ..
  62. Kim O, Cho M, Kim B, Huh J. A splicing mutation in the gene encoding phytoene synthase causes orange coloration in Habanero pepper fruits. Mol Cells. 2010;30:569-74 pubmed publisher
    ..Interestingly, the PSY gene of red Habanero has a conserved splice acceptor dinucleotide AG. Further analysis suggests that red Habanero is a wild type revertant of the PSY mutant orange Habanero. ..
  63. Kim K, Woo G. Expression of acrB and ramA in fluoroquinolone resistant mutants from multi-drug resistant Salmonella enterica serovar Haardt. Lett Appl Microbiol. 2011;52:484-90 pubmed publisher
    ..This study demonstrates how continuous usage of antimicrobials affects the increase of drug-resistance in Salmonella enterica induced by QRDR mutation and efflux pump related genes. ..
  64. Lee D, Lee H, Hong S, Choi B, Kim H, Han S, et al. Inositol 1,4,5-trisphosphate 3-kinase A is a novel microtubule-associated protein: PKA-dependent phosphoregulation of microtubule binding affinity. J Biol Chem. 2012;287:15981-95 pubmed publisher
    ..These results suggest that PKA-dependent phosphorylation and microtubule binding of IP(3)K-A are involved in its regulatory mechanism for activity-dependent neuronal events such as local calcium signaling and its synaptic targeting. ..
  65. Park J, Lee D, Kwon O, Oh D, Bahn Y, Kang H. Unraveling unique structure and biosynthesis pathway of N-linked glycans in human fungal pathogen Cryptococcus neoformans by glycomics analysis. J Biol Chem. 2012;287:19501-15 pubmed publisher
    ..Our data present the first report on the unique structure and biosynthesis pathway of N-glycans in C. neoformans. ..
  66. Choi H, Yoo J, Jeong M, Park S, Shin D, Jang S, et al. Protein kinase A phosphorylates NCoR to enhance its nuclear translocation and repressive function in human prostate cancer cells. J Cell Physiol. 2013;228:1159-65 pubmed publisher
    ..Taken together, these results uncover a regulatory mechanism by which PKA positively modulates NCoR function in transcriptional regulation in prostate cancer. ..
  67. Lee H, Seo J, Cho J, Jung H, Kim J, Lee J, et al. Oryza sativa COI homologues restore jasmonate signal transduction in Arabidopsis coi1-1 mutants. PLoS ONE. 2013;8:e52802 pubmed publisher
    ..These results indicate that the three OsCOIs are orthologues of COI1 and play key roles in JA signaling. ..
  68. Yang N, Lee Y, Lee H, Kim Y, Lee S. Glucocerebrosidase, a new player changing the old rules in Lewy body diseases. Biol Chem. 2013;394:807-18 pubmed publisher
  69. Min H, Lee C, Jung K. Correlation of immunohistochemical markers and BRAF mutation status with histological variants of papillary thyroid carcinoma in the Korean population. J Korean Med Sci. 2013;28:534-41 pubmed publisher
    ..043). Immunohistochemical evaluation showed characteristic patterns in histological variants. PTEN and S100A4 expression are suggested as indicators of regional lymph node metastasis. ..
  70. Kim H, Kim K, Yu S, Jang E, Yu J, Cho G, et al. Development of biomarkers for screening hepatocellular carcinoma using global data mining and multiple reaction monitoring. PLoS ONE. 2013;8:e63468 pubmed publisher
    ..This efficacious integrative strategy is applicable to the development of markers for cancer and other diseases. ..
  71. Jang Y, Byun Y, Lee K, Park E, Lee Y, Lee Y, et al. Host defense mechanism-based rational design of live vaccine. PLoS ONE. 2013;8:e75043 pubmed publisher
  72. Lee J, Hwang Y, Ryu H, Kowall N, Ryu H. Nucleolar dysfunction in Huntington's disease. Biochim Biophys Acta. 2014;1842:785-90 pubmed publisher
    ..This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease. ..
  73. Hong Y, Lee J, Park J, Choi Y, Hyun Y, Yoon B, et al. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease. BMC Med Genet. 2013;14:125 pubmed publisher
    ..Therefore, this study is the first report of a new subtype of autosomal recessive axonal CMT by a compound heterozygous mutation in HADHB, and will expand the clinical and genetic spectrum of HADHB. ..
  74. Chang H, Shin B, Kim A, Kim H, Kim B. DNA methylation analysis for the diagnosis of thyroid nodules - a pilot study with reference to BRAF(V) (600E) mutation and cytopathology results. Cytopathology. 2016;27:122-30 pubmed publisher
    ..Further studies are needed on larger samples to assess the potential value of methylation analysis of thyroid FNA. ..
  75. Lim B, Kim C, Kim J, Kwon W, Lee W, Kim J, et al. Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites. Oncotarget. 2016;7:8055-66 pubmed publisher
    ..These results provide a genome-wide molecular understanding of GC peritoneal carcinomatosis and its clinical implications, thereby facilitating the development of effective therapeutics. ..
  76. Choi Y, Song Y, Lee H, Yi K, Kim Y, Suh K, et al. MicroRNA Expression Signatures Associated With BRAF-Mutated Versus KRAS-Mutated Colorectal Cancers. Medicine (Baltimore). 2016;95:e3321 pubmed publisher
    ..Our results suggest that the DE-miRNAs in BRAF-mutated CRCs in comparison to KRAS-mutated CRCs are implicated in the aggressive phenotype of the BRAF-mutated CRCs. Further experimental validation is required to confirm these results. ..
  77. Lee J, Kwak J, Moon J, Eom S, Liong E, Pedelacq J, et al. Crystal structure and functional analysis of the SurE protein identify a novel phosphatase family. Nat Struct Biol. 2001;8:789-94 pubmed publisher
    ..In the vanadate- and tungstate-complexed structures, the inhibitors bind adjacent to the divalent metal ion. Our structural and functional analyses identify the SurE proteins as a novel family of metal ion-dependent phosphatases...
  78. Shin J, Kim D, Bianchi R, Wong R, Shin H. Genetic dissection of theta rhythm heterogeneity in mice. Proc Natl Acad Sci U S A. 2005;102:18165-70 pubmed
    ..The results genetically define the existence of at least two subtypes of theta rhythms and reveal their association with different behaviors. ..
  79. Bae Y, Kang S, Park K. Drosophila melanogaster Parkin ubiquitinates peanut and septin1 as an E3 ubiquitin-protein ligase. Insect Biochem Mol Biol. 2007;37:430-9 pubmed
    ..Therefore, our findings in the present study demonstrate that Parkin possibly influences septin protein effects on p53-mediated apoptosis, helping to extend the utility of Drosophila as a model system for the study of neurodegeneration. ..
  80. Cho H, Hwang D, Jung S, Yoon J. Schizosaccharomyces pombe nup97, which Genetically Interacts with mex67, is essential for growth and involved in mRNA export. J Microbiol. 2007;45:344-9 pubmed
    ..These results suggest that nup97 is involved in mRNA export from the nucleus to cytoplasm. ..
  81. Park C, Kim T, Son S, Hwang J, Lee S, Chang S, et al. Brassinosteroids control AtEXPA5 gene expression in Arabidopsis thaliana. Phytochemistry. 2010;71:380-7 pubmed publisher
    ..These findings indicate that AtEXPA5 is a growth-regulating gene whose expression is controlled by brassinosteroid signaling downstream of BZR1 in A. thaliana. ..
  82. Lee S, Kim H, Hwang H, Jeong Y, Na S, Woo J, et al. Identification of tyrosyl-DNA phosphodiesterase as a novel DNA damage repair enzyme in Arabidopsis. Plant Physiol. 2010;154:1460-9 pubmed publisher
    ..These results indicate that AtTDP plays a clear role in the repair of topoisomerase I-DNA complexes in Arabidopsis. ..
  83. Kim H, Kim H, Lee J, Yun J, Kim S, Park S, et al. Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations. J Neurol. 2011;258:2260-7 pubmed publisher
    ..Otherwise, motor and nonmotor symptoms did not differ between them. Subgroup analysis of EOPD with an AAO of ?35 years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations. ..
  84. Lee S, Lee D, Kim J, Kwon M, Kim J, Hong Y, et al. Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. Clin Endocrinol (Oxf). 2011;75:715-21 pubmed publisher
    ..In addition, the low rate of mutation positivity suggests significant genetic heterogeneity of CH in the Korean population. ..
  85. Kim S, Lee B, Lim J, Ryu H, Yang J, Chung J, et al. Determination of the carrier frequencies of selected GJB2 mutations in the Korean population. Int J Audiol. 2011;50:694-8 pubmed publisher
    ..04%, respectively. The carrier frequency of either the 235delC or V37I mutation was estimated to be 0.88% with 95% binomial CI, 0.44-1.56. These results will facilitate diagnosis of, and genetic counseling for, hearing loss in Koreans. ..
  86. Park S, Ryu M, Ryoo B, Im S, Kwon H, Lee S, et al. Sorafenib in patients with metastatic gastrointestinal stromal tumors who failed two or more prior tyrosine kinase inhibitors: a phase II study of Korean gastrointestinal stromal tumors study group. Invest New Drugs. 2012;30:2377-83 pubmed publisher
    ..Sorafenib showed antitumor activity in this population of imatinib and sunitinib pretreated GIST. With sorafenib, about one third of patients can maintain disease control for more than 24 weeks. ..
  87. Jung J, Seo P, Ahn J, Park C. Arabidopsis RNA-binding protein FCA regulates microRNA172 processing in thermosensory flowering. J Biol Chem. 2012;287:16007-16 pubmed publisher
    ..We propose that the FCA-miR172 regulon provides an adaptive strategy that fine tunes the onset of flowering under fluctuating ambient temperature conditions. ..
  88. Kim A, Lee J, Lee S, Kim C, Lee S, Jang W, et al. Coexistent mutations of KRAS and PIK3CA affect the efficacy of NVP-BEZ235, a dual PI3K/MTOR inhibitor, in regulating the PI3K/MTOR pathway in colorectal cancer. Int J Cancer. 2013;133:984-96 pubmed publisher
    ..Based on these results, coexistent KRAS and PIK3CA mutations confer resistance to BEZ235 via suppression of BIM-induced apoptosis, suggesting that combined treatment with conventional chemoagents is a potential strategy in the clinic. ..
  89. Lee S, Lee K, Song S, Hyun H, Lee S, Kim J. A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. Biomed Res Int. 2013;2013:948181 pubmed publisher
    ..This may induce cell stress and damage processing and/or transport of dentin matrix proteins or other critical proteins. ..
  90. Chung K, Lee J, Lee J, Ahn J. Fruit indehiscence caused by enhanced expression of NO TRANSMITTING TRACT in Arabidopsis thaliana. Mol Cells. 2013;35:519-25 pubmed publisher
    ..In seed crops, a reduction in pod dehiscence can increase yield by decreasing seed dispersal; therefore, our results may prove useful as a basis to improve crop yield. ..
  91. Lee S, Jung C, Kim T, Bae J, Jung S, Choi Y, et al. Molecular genotyping of follicular variant of papillary thyroid carcinoma correlates with diagnostic category of fine-needle aspiration cytology: values of RAS mutation testing. Thyroid. 2013;23:1416-22 pubmed publisher
    ..The follicular variant of papillary thyroid carcinoma (FVPTC) presents distinct histologic subtypes and molecular genotyping. The preoperative diagnosis of FVPTC through fine-needle aspiration cytology (FNAC) is challenging...
  92. Jang E, Park H, Hong J, Hwang E. Lysine 313 of T-box is crucial for modulation of protein stability, DNA binding, and threonine phosphorylation of T-bet. J Immunol. 2013;190:5764-70 pubmed publisher
    ..Thus, multiple posttranslational modifications of T-bet are involved in fine-tuning cytokine production during Th cell development. ..