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Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers

Yoo SK, Song YS, Park YJ, Seo JS

Anaplastic thyroid cancer (ATC) is a lethal human cancer with a 5-year survival rate of less than 10%. Recently, its genomic and transcriptomic characteristics have been extensively elucidated over 5...
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Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience

Lee DE, Kim H, Park J, Yun T, Park DY, Kim M, Ryu HM

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility...
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The Cancer Precision Medicine Diagnosis and Treatment (K-MASTER) Enterprise

Choi YJ, Kim YH

“Precision” trials, using reasonably integrated biomarker targets and molecularly selective anticancer agents, have become a major concern for both patients and their physicians. As next-generation sequencing, which is a parallel...
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Molecular Characterization of Primary Human Astrocytes Using Digital Gene Expression Analysis

Kim JW, Jeong JH

OBJECTIVE: Astrocyte dysfunctions are related to several central nervous system (CNS) pathologies. Transcriptomic profiling of human mRNAs to investigate astrocyte functions may provide the basic molecular-biological data pertaining to the...
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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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Discussion on critical points for a tailored therapy to cure hepatitis C virus infection

Marascio N, Quirino A, Barreca GS, Galati L, Costa C, Pisani V, Mazzitelli M, Matera G, Liberto MC, Focà A, Torti C

Hepatitis C virus (HCV) infects around 71 million people worldwide and in 2018 it is still a major health problem. Since 2011, anti-HCV therapy with availability of direct-acting antiviral drugs...
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Search for Novel Mutational Targets in Human Endocrine Diseases

Park SY, Seo MH, Lee S

The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the...
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Genomic Characterization of Differentiated Thyroid Carcinoma

Song YS, Park YJ

Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies of differentiated thyroid carcinoma (DTC) using massively-parallel sequencing (MPS) have been...
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Comprehensive Molecular Characterization of Urological Malignancies: Literature Review of Landmark Studies

Suh J, Jeong CW

Owing to recent advancements in next-generation sequencing and bioinformatics, genetic data of urological malignancies exponentially studied and published. Application of precision medicine strategies for cancer diagnosis, management is just around...
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A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Recent Update in Pathologic Diagnosis for Pancreatic Cystic Neoplasm

Jang KT

Pancreas cystic neoplasm is a relatively common disease. However, its' pathologic diagnosis is not easy. The most frequent problem is low cellularity when compared to another organ cytology or biopsy...
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The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer

Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R

In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her...
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Using low-coverage whole genome sequencing technique to analyze the chromosomal copy number alterations in the exfoliative cells of cervical cancer

Ren T, Suo J, Liu S, Wang S, Shu S, Xiang Y, Lang JH

OBJECTIVES: We analyzed the chromosomal-arm-level copy number alterations (CNAs) in the cervical exfoliative cell and tissue samples by using the low-coverage whole genomic sequencing technique. METHODS: In this study, we retrospectively...
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Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing

Yu HJ, Lee YJ, Shim JW, Kim DS, Shim JY, Park MS, Woo HY, Park H, Jung HL, Kwon MJ

No abstract available.
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A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong S, Lee CG

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused...
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Construction of a Transcriptome-Driven Network at the Early Stage of Infection with Influenza A H1N1 in Human Lung Alveolar Epithelial Cells

Chung M, Cho SY, Lee YS

We aimed to understand the molecular changes in host cells that accompany infection by the seasonal influenza A H1N1 virus because the initial response rapidly changes owing to the fact...
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Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor

Bae JM, Won JK, Park SH

Recent discoveries of brain tumor-related genes and fast advances in genomic testing technologies have led to the era of molecular diagnosis of brain tumor. Molecular profiling of brain tumor became...
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Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

Baldassarri M, Fallerini , Cetta F, Ghisalberti M, Bellan C, Furini S, Spiga O, Crispino S, Gotti G, Ariani F, Paladini P, Renieri A, Frullanti

PURPOSE: Lung cancer is strongly associated to tobacco smoking. However, global statistics estimate that in females the proportion of lung cancer cases that is unrelated to tobacco smoking reaches fifty...
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COEX-Seq: Convert a Variety of Measurements of Gene Expression in RNA-Seq

Kim SC, Yu D, Cho SB

Next generation sequencing (NGS), a high-throughput DNA sequencing technology, is widely used for molecular biological studies. In NGS, RNA-sequencing (RNA-Seq), which is a short-read massively parallel sequencing, is a major...
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