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Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing

Ko J, Lee HJ, Lee JS, Yoon JS

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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Lack of Aberrant Methylation in an Adjacent Area of Left-Sided Colorectal Cancer

Sambuudash O, Kim HS, Cho MY

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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JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis

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

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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Uterine carcinosarcoma/malignant mixed Mullerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy

Wilson BT, Cordell HJ

No abstract available.
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Neuropathic Pain Model of Peripheral Neuropathies Mediated by Mutations of Glycyl-tRNA Synthetase

Lee SJ, Seo AJ, Park BS, Jo HW, Huh Y

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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KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty

Rhie YJ, Lee KH, Ko JM, Lee WJ, Kim JH, Kim HS

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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Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer Patients

Cho U, Oh WJ, Bae JS, Lee S, Lee YS, Park GS, Lee YS, Jung CK

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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Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene

Cho HK, Jeon IS

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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Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Iijima S, Ohzeki T, Maruo Y

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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Phosphatidylinositol phosphates directly bind to neurofilament light chain (NF-L) for the regulation of NF-L self assembly

Kim SK, Kim H, Yang YR, Suh PG, Chang JS

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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Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

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

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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Rarity of TLR4 Asp299Gly and Thr399Ile Polymorphisms in the Korean Population

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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Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans

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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A human mutant CD4 molecule resistant to HIV-1 binding restores helper T-lymphocyte functions in murine CD4-deficient mice

Kim DK, Tahara-Hanaoka S, Shinohara , Nakauchi H

  • KMID: 1103675
  • Exp Mol Med.
  • 2007 Feb;39(1):1-7.
CD4 is a cell surface glycoprotein that acts as a co-receptor for the T cell antigen receptor by binding to a non-polymorphic portion of MHC molecules. CD4 also functions as...
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Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas

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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Genotype analysis of Cryptosporidium spp. prevalent in a rural village in Hwasun-gun, Republic of Korea

Park JH, Guk SM, Han ET, Shin EH, Kim JL, Chai JY

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

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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Characterization of newly established oral cancer cell lines derived from six squamous cell carcinoma and two mucoepidermoid carcinoma cells

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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Calcium cycling proteins in heartfailure, cardiomyopathy and arrhythmias

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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Transgenic expression of Korean type hepatitis C virus core protein and related mutants in mice

Wang AG, Moon HB, Lee YH, Yu SL, Kwon HJ, Han YH, Fang W, Lee TH, Jang KL, Kim SK, Yu DY, Lee DS

  • KMID: 1103328
  • Exp Mol Med.
  • 2004 Dec;36(6):588-592.
Hepatitis C virus (HCV) is a major causative agent in liver disease. In order to investigate if Korean type HCV core protein and its related mutants, S99Q and S116I, are...
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