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Recent Advances in Molecular Basis of Lung Aging and Its Associated Diseases

Kang MJ

Aging is often viewed as a progressive decline in fitness due to cumulative deleterious alterations of biological functions in the living system. Recently, our understanding of the molecular mechanisms underlying...
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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

Park J, Yoo HM, Sul HJ, Shin S, Lee SW, Kim JG

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors....
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2019 Novel Coronavirus Disease Outbreak and Molecular Genetic Characteristics of Severe Acute Respiratory Syndrome-Coronavirus-2

Jeong YS

The 2019 novel coronavirus disease (COVID-19) outbreaks that emerged in Wuhan city, Hubei province, have led to a formidable number of confirmed cases that resulted in >5,700 deaths globally, including...
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Review of a novel disease entity, immunoglobulin G4-related disease

Maehara T, Moriyama M, Nakamura S

Immunoglobulin G4 (IgG4)-related dacryoadenitis and sialoadenitis (IgG4-DS) are part of a multiorgan fibroinflammatory condition of unknown etiology termed IgG4-related disease (IgG4-RD), which has been recognized as a single diagnostic entity...
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Molecular Genetic and Serologic Analysis of the O allele in the Korean Population

Lee JY, Song SA, Oh SH

BACKGROUND: The recent expansion of knowledge about various ABO alleles has led to the need for a comprehensive measure to cover the numerous polymorphisms dispersed in the ABO gene. A...
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OryzaGP: rice gene and protein dataset for named-entity recognition

Larmande P, Do H, Wang Y

Text mining has become an important research method in biology, with its original purpose to extract biological entities, such as genes, proteins and phenotypic traits, to extend knowledge from scientific...
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Various Classification of Gastric Adenocarcinoma

Moon HS, Jeong HY

Despite its declining incidence, gastric cancer is globally, still, the third most common cause of cancer-related mortality. Gastric cancer is a heterogeneous disease with diverse pathogenesis and molecular backgrounds. Therefore...
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Effect of Ghrelin on Memory Impairment in a Rat Model of Vascular Dementia

Park JM, Kim YJ

PURPOSE: The purpose of this study was to identify the effect of ghrelin on memory impairment in a rat model of vascular dementia induced by chronic cerebral hypoperfusion. METHODS: Randomized controlled...
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Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

Lee YK, Kim HJ, Lee K, Park SH, Song SH, Seong MW, Kim M, Han JY

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence...
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Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Choe JY, Jang KM, Min SY, Hwang SK, Kang B, Choe BH

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as...
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A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

Lee JW, Song J, Shin TJ, Hyun HK, Kim YJ, Lee SH, Kim J, Kim JW

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription...
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Molecular and Clinicopathological Features of Gastrointestinal Stromal Tumors in Vietnamese Patients

Ngo QD, Pham QT, Phan DA, Hoang AV, Hua TN, Nguyen ST

BACKGROUND: Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal neoplasms of the gastrointestinal tract. Management of GIST patients is currently based on clinicopathological features and associated genetic changes. However,...
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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD...
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Comparison of responsiveness to cancer development and anti-cancer drug in three different C57BL/6N stocks

Kang MJ, Kim JE, Park JW, Choi HJ, Bae SJ, Kim KS, Jung YS, Cho JY, Hwang DY, Song HK

In our efforts to understand the systemic features of tumors, the importance of animal models is increasing due to the recent growth in the development of immunotherapy and targeted therapies....
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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Bak NR, Song ES, Yang EM, Kim CJ

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological...
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“Hairiness” is a Facsimile of Reorganized Cytoskeletons: A Cytopathic Effect of Coxiella burnetii

Lee WY

In 1993, I reported that Coxiella burnetii transforms human B cells into hairy cells (cbHCs), the first hairy cell reported outside of hairy cell leukemia (HCL). Over last few decades,...
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Acute Monoblastic Leukemia with t(11;17)(q23;q21): Fusion of the KMT2A(MLL) and MLLT6(AF17) Genes

Park CG, Mun SH, Lee AJ, Jeon CH, Suh HS, Kim SG

The KMT2A (formerly MLL) gene is associated with at least 10% of all cases of acute leukemia. More than 80 translocation partner genes of KMT2A have been discovered to date,...
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Rhoptry antigens as Toxoplasma gondii vaccine target

Foroutan M, Ghaffarifar F, Sharifi Z, Dalimi A, Jorjani O

Toxoplasmosis is a cosmopolitan zoonotic infection, caused by a unicellular protozoan parasite known as Toxoplasma gondii that belongs to the phylum Apicomplexa. It is estimated that over one-third of the...
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A Novel Bio-Psychosocial-Behavioral Treatment Model of Panic Disorder

Park SC, Kim YK

To conceptualize a novel bio-psychosocial-behavioral treatment model of panic disorder (PD), it is necessary to completely integrate behavioral, psychophysiological, neurobiological, and genetic data. Molecular genetic research on PD is specifically...
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The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Baek MS, Kim SH, Lee YM

PURPOSE: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease....
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