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Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review

Lee JH, Davaatseren M, Lee S

Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the...
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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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Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment

Yoon KA, Woo SM, Kim YH, Kong SY, Lee MK, Han SS, Kim TH, Lee WJ, Park SJ

BACKGROUND/AIMS: Pancreatic ductal adenocarcinoma (PDA) is associated with an extremely poor prognosis. This study assessed the genetic diversity among patients with PDA and compared their mutational profiles before and after...
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Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations

Cho MA, Yoon JG, Kim V, Kim H, Lee R, Lee MG, Kim D

Human cytochrome P450 2C9 is a highly polymorphic enzyme that is required for drug and xenobiotic metabolism. Here, we studied eleven P450 2C9 genetic variants—including three novel variants F69S, L310V,...
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Prediction of Chemotherapy-Induced Peripheral Neuropathy in Patients with Lymphoma and Myeloma: the Roles of Brain-Derived Neurotropic Factor Protein Levels and A Gene Polymorphism

Azoulay D, Giryes S, Nasser R, Sharon R, Horowitz N

BACKGROUND AND PURPOSE: Brain-derived neurotrophic factor (BDNF) is a neuronal growth factor that plays an essential role in the maintenance of the nervous system. We have evaluated the peripheral blood...
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Diversity of Genetic Environment of bla(CTX-M) Genes and Antimicrobial Susceptibility in Extended-spectrum β-lactamase producing Escherichia coli Isolated in Korea

Yang YY, Suh MH

Increasing resistance due to the production of extended-spectrum β-lactamase (ESBL) in Escherichia coli is a major problem to public health and CTX-M enzymes have become the most prevalent ESBL worldwide....
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Familial Creutzfeldt–Jakob Disease with a PRNP Mutation at Codon 180 Presented with Visual Hallucinations and Illusions

Ryu DW, Hong YJ, Park JW, Lee SB, Kim SH, Kim Y, Seong MJ, Kim BS

No abstract available.
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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
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Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease

Wang J, Xiao K, Zhou W, Shi Q, Dong XP

BACKGROUND AND PURPOSE: Gerstmann-Sträussler-Scheinker disease (GSS) with a proline-to-leucine mutation at codon 102 (P102L) in the PRNP gene is the most frequently reported GSS subtype worldwide. This study aimed to...
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Structural Characteristics of Seven IL-32 Variants

Sohn DH, Nguyen TT, Kim S, Shim S, Lee S, Lee Y, Jhun H, Azam T, Kim J, Kim S

IL-32 exists as seven mRNA transcripts that can translate into distinct individual IL-32 variants with specific protein domains. These translated protein domains of IL-32 variants code for specific functions that...
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CRISPR/Cas9-mediated generation of a Plac8 knockout mouse model

Lee H, Kim JI, Park JS, Roh JI, Lee J, Kang BC, Lee HW

Placenta specific 8 (PLAC8, also known as ONZIN) is a multi-functional protein that is highly expressed in the intestine, lung, spleen, and innate immune cells, and is involved in various...
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Generation of knockout mouse models of cyclin-dependent kinase inhibitors by engineered nuclease-mediated genome editing

Park BM, Roh JI, Lee J, Lee HW

Cell cycle dysfunction can cause severe diseases, including neurodegenerative disease and cancer. Mutations in cyclin-dependent kinase inhibitors controlling the G1 phase of the cell cycle are prevalent in various cancers....
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Genome Sequencing of Human Cytomegalovirus Strain LCW and Identification of Asia-specific Cluster

Kang JH, Yoon JH, Hwang HR, Lee CH

Human cytomegalovirus (HCMV) is a ubiquitous human pathogen and contains double stranded DNA genome with approximately 230 kbp. Molecular genomic studies of HCMV have been attempted in order to understand...
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STADIUM: Species-Specific tRNA Adaptive Index Compendium

Yoon J, Chung YJ, Lee M

Due to the increasing interest in synonymous codons, several codon bias-related terms were introduced. As one measure of them, the tRNA adaptation index (tAI) was invented about a decade ago....
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Genomic Insights into the Rice Blast Fungus through Estimation of Gene Emergence Time in Phylogenetic Context

Choi J, Lee JJ, Jeon J

The rice blast fungus, Magnaporthe oryzae, is an important pathogen of rice plants. It is well known that genes encoded in the genome have different evolutionary histories that are related...
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate...
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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea

Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS

OBJECTIVE: We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations. METHODS: All ovarian cancer...
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A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy

Kanwal S, Yoo DH, Tahir S, Lee SJ, Lee MH, Choi BO, Chung KW

No abstract available.
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Patterns of rpoC Mutations in Drug-Resistant Mycobacterium tuberculosis Isolated from Patients in South Korea

Yun YJ, Lee JS, Yoo JC, Cho E, Park D, Kook YH, Lee KH

BACKGROUND: Rifampicin (RFP) is one of the principal first-line drugs used in combination chemotherapies against Mycobacterium tuberculosis, and its use has greatly shortened the duration of chemotherapy for the successful...
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Mitochondrial 10398A>G NADH-Dehydrogenase Subunit 3 of Complex I Is Frequently Altered in Intra-Axial Brain Tumors in Malaysia

Mohamed Yusoff AA, Zulfakhar , Mohd Khair SZN, Wan Abdullah WS, Abdullah J, Idris Z

BACKGROUND: Mitochondria are major cellular sources of reactive oxygen species (ROS) generation which can induce mitochondrial DNA damage and lead to carcinogenesis. The mitochondrial 10398A>G alteration in NADH-dehydrogenase subunit 3...
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