- A mutation in QRDR in the ParC subunit of topoisomerase IV was responsible for fluoroquinolone resistance in clinical isolates of Streptococcus pneumoniae
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Choi H, Lee HJ, Lee Y
- KMID: 711596
- Yonsei Med J.
- 1998 Dec;39(6):541-545.
- doi: 10.3349/ymj.1998.39.6.541
Forty-one strains of Streptococcus pneumoniae were isolated at Seoul National University Children's Hospital from 1991 to 1997. Isolates were divided into six groups based on MICs of three quinolones, ciprofloxacin,... -
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- Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer Patients
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Cho U, Oh WJ, Bae JS, Lee S, Lee YS, Park GS, Lee YS, Jung CK
- KMID: 2129598
- J Korean Med Sci.
- 2014 Aug;29(8):1054-1060.
- doi: 10.3346/jkms.2014.29.8.1054
The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. We investigated the clinicopathological features of thyroid cancer with rare BRAF mutations.... -
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- Uterine carcinosarcoma/malignant mixed Mullerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy
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Wilson BT, Cordell HJ
- KMID: 2345913
- J Gynecol Oncol.
- 2015 Oct;26(4):249-251.
- doi: 10.3802/jgo.2015.26.4.249
No abstract available. -
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- Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II
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Iijima S, Ohzeki T, Maruo Y
- KMID: 1779679
- Yonsei Med J.
- 2011 Mar;52(2):369-372.
- doi: 10.3349/ymj.2011.52.2.369
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in... -
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- Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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Ko J, Lee HJ, Lee JS, Yoon JS
- KMID: 2418951
- Yonsei Med J.
- 2017 Sep;58(5):1078-1080.
- doi: 10.3349/ymj.2017.58.5.1078
A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To... -
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- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
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Cho HK, Jeon IS
- KMID: 1734937
- J Korean Med Sci.
- 2014 Mar;29(3):452-455.
- doi: 10.3346/jkms.2014.29.3.452
Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due... -
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- Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans
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Song K, Dube MP, Lim J, Hwang I, Lee I, Kim JJ
- KMID: 1103687
- Exp Mol Med.
- 2007 Feb;39(1):114-120.
Dilated cardiomyopathy (DCM) is characterized by cardiac dilation and systolic dysfunction. So far sixteen genes have been shown to cause autosomal dominant familial dilated cardiomyopathy (FDC). We identified a large... -
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- Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas
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Cho YG, Kim CJ, Song JH, Rhie DJ, Park YK, Kim SY, Nam SW, Yoo NJ, Lee JY, Park WS
- KMID: 1094150
- Exp Mol Med.
- 2006 Jun;38(3):247-255.
The potassium channels are ubiquitous multisubunit membrane proteins, and potassium-dependent alterations in the membrane potential play an important role in the proliferation of many types of cells. This study analyzed... -
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- Lack of Aberrant Methylation in an Adjacent Area of Left-Sided Colorectal Cancer
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Sambuudash O, Kim HS, Cho MY
- KMID: 2419080
- Yonsei Med J.
- 2017 Jul;58(4):749-755.
- doi: 10.3349/ymj.2017.58.4.749
PURPOSE: The molecular nature and the rate-limiting step of epigenetic field defects in the evolution of left-sided colorectal cancer (LCA) remain uncertain. MATERIALS AND METHODS: The methylation status of 27 candidate... -
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- Calcium cycling proteins in heartfailure, cardiomyopathy and arrhythmias
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Minamisawa S, Sato Y, Cho MC
- KMID: 1097100
- Exp Mol Med.
- 2004 Jun;36(3):193-203.
A growing body of evidence, including studies using genetically engineered mouse models, has shown that Ca2+ cycling and Ca2+ -dependent signaling pathways play a pivotal role in cardiac hypertrophy and... -
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- JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis
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Kim BH, Cho YU, Bae MH, Jang S, Seo EJ, Chi HS, Choi Y, Kim DY, Lee JH, Lee JH, Lee KH, Park YM, Lee JK, Park CJ
- KMID: 2164472
- J Korean Med Sci.
- 2015 Jul;30(7):882-888.
- doi: 10.3346/jkms.2015.30.7.882
Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF... -
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- Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene
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Choi H, Kim S, Moon JH, Lee YH, Rhee Y, Kang ES, Ahn CW, Cha BS, Lee EJ, Kim KR, Lee HC, Jeong SY, Kim HJ, Lim SK
- KMID: 1793203
- Yonsei Med J.
- 2008 Aug;49(4):655-661.
- doi: 10.3349/ymj.2008.49.4.655
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid... -
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- KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty
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Rhie YJ, Lee KH, Ko JM, Lee WJ, Kim JH, Kim HS
- KMID: 2129608
- J Korean Med Sci.
- 2014 Aug;29(8):1120-1125.
- doi: 10.3346/jkms.2014.29.8.1120
Kisspeptin/G-protein couple receptor-54 (GPR54) system plays a key role in the activation of the gonadotropic axis at puberty. Central precocious puberty (CPP) is caused by the premature activation of hypothalamic... -
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- Rarity of TLR4 Asp299Gly and Thr399Ile Polymorphisms in the Korean Population
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Kim YS, Hwang YJ, Kim SY, Yang SM, Lee KY, Park IB
- KMID: 2396087
- Yonsei Med J.
- 2008 Feb;49(1):58-62.
PURPOSE: Activation of the innate immune system and chronic low-grade inflammation are thought to be involved in the pathogenesis of atherosclerosis and also thought to be associated with type 2... -
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- Characterization of newly established oral cancer cell lines derived from six squamous cell carcinoma and two mucoepidermoid carcinoma cells
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Lee EJ, Kim J, Lee SA, Kim EJ, Chun YC, Ryu MH, Yook JI
- KMID: 1089447
- Exp Mol Med.
- 2005 Oct;37(5):379-390.
Since genetic abnormalities of human cancer are greatly geographically dependent, cultural and environmental backgrounds are thought to be closely related to the carcinogenic process. In the present study, eight human... -
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- Phosphatidylinositol phosphates directly bind to neurofilament light chain (NF-L) for the regulation of NF-L self assembly
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Kim SK, Kim H, Yang YR, Suh PG, Chang JS
- KMID: 1109404
- Exp Mol Med.
- 2011 Mar;43(3):153-160.
- doi: 10.3858/emm.2011.43.3.019
Phosphatidylinositol phosphates (PtdInsPs) are ubiquitous membrane phospholipids that play diverse roles in cell growth and differentiation. To clarify the regulation mechanism acting on neurofilament light chain (NF-L) self assembly, we... -
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- Genotype analysis of Cryptosporidium spp. prevalent in a rural village in Hwasun-gun, Republic of Korea
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Park JH, Guk SM, Han ET, Shin EH, Kim JL, Chai JY
- KMID: 1091833
- Korean J Parasitol.
- 2006 Mar;44(1):27-33.
- doi: 10.3347/kjp.2006.44.1.27
Two species of Cryptosporidium are known to infect man; C. hominis which shows anthroponotic transmission between humans, and C. parvum which shows zoonotic transmission between animals or between animals and... -
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- Neural cell adhesion molecule (NCAM) induces neuronal phenotype acquisition in dominant negative MEK1-expressing hippocampal neural progenitor cells
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Kim BW, Son H
- KMID: 1115952
- Exp Mol Med.
- 2006 Dec;38(6):732-738.
It has been shown that neural cell adhesion molecule (NCAM)-induced neuronal differentiation is extracellular signal-regulated kinase (ERK)-dependent. However, an involvement of the mitogen activated protein kinase (MAPK) kinase (MEK), an... -
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- Neuropathic Pain Model of Peripheral Neuropathies Mediated by Mutations of Glycyl-tRNA Synthetase
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Lee SJ, Seo AJ, Park BS, Jo HW, Huh Y
- KMID: 2129611
- J Korean Med Sci.
- 2014 Aug;29(8):1138-1144.
- doi: 10.3346/jkms.2014.29.8.1138
Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. Previous studies have found that, according to CMT patients, neuropathic pain is an occasional symptom of CMT. However,... -
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