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Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy

Li Q

The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds...
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Characteristics of DNMT3A mutations in acute myeloid leukemia

Park DJ, Kwon A, Cho BS, Kim HJ, Hwang KA, Kim M, Kim Y

BACKGROUND: DNMT3A mutations occur in approximately 20% of AML cases and are associated with changes in DNA methylation. CDKN2B plays an important role in the regulation of hematopoietic progenitor cells...
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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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ABO*B3.01 Found in the A1B3 Phenotype Showing ABO Discrepancy: The First Case in Korea

Kim N, Yu H, Lee J, Kim DS, Lee HS, Chung YN, Cho YG, Cho D

B₃ is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a...
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A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
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Identification and Characterization of Two New S-Adenosylmethionine-Dependent Methyltransferase Encoding Genes Suggested Their Involvement in Stipe Elongation of Flammulina velutipes

Huang Q, Mukhtar I, Zhang Y, Wei Z, Han X, Huang R, Yan J, Xie B

Two new SAM-dependent methyltransferase encoding genes (fvsmt1 and fvsmt2) were identified from the genome of Flammulina velutipes. In order to make a comprehensive characterization of both genes, we performed in...
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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is...
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Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Cascais M, Pereira E, Vieira A, Venâncio , Ramos L, Moleiro P

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of...
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Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

Kim HJ, Nam MS, Choo HK, Kim SH

PURPOSE: To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history. CASE SUMMARY: A 51-year-old female patient without any...
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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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Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

Kim JS

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold...
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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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Discordance of Epidermal Growth Factor Receptor Mutation between Brain Metastasis and Primary Non-Small Cell Lung Cancer

Kim KM, Lee SH, Kim SM, Kim NY, Gwak HS, Shin SH, Kwon JW, Yoo H

BACKGROUND: The aim of this study was to compare epidermal growth factor receptor (EGFR) mutations between non-small cell lung cancer (NSCLC) and corresponding brain metastases (BMs) in Korea society. METHODS: From...
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Loss of LKB1 Protein Expression Correlates with Increased Risk of Recurrence and Death in Patients with Resected, Stage II or III Colon Cancer

Sfakianaki M, Papadaki C, Tzardi M, Trypaki M, Alam S, Lagoudaki , Messaritakis I, Zoras O, Mavroudis , Georgoulias V, Souglakos

PURPOSE: The purpose of this study was to investigate the prognostic significance of liver kinase b1 (LKB1) loss in patients with operable colon cancer (CC). MATERIALS AND METHODS: Two hundred sixty-two...
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FusionScan: accurate prediction of fusion genes from RNA-Seq data

Kim P, Jang YE, Lee S

Identification of fusion gene is of prominent importance in cancer research field because of their potential as carcinogenic drivers. RNA sequencing (RNA-Seq) data have been the most useful source for...
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Heo S, Jang JH, Yu J

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused...
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Clarithromycin resistance and female gender affect Helicobacter pylori eradication failure in chronic gastritis

Chang YW, Ko WJ, Oh CH, Park YM, Oh SJ, Moon JR, Cho JH, Kim JW, Jang JY

BACKGROUND/AIMS: The eradication rate of the first-line triple therapy (a proton pump inhibitor, clarithromycin, and amoxicillin) for Helicobacter pylori infection has gradually decreased in Korea. We evaluated whether clinical parameters,...
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Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse

Kim MJ, Lee RU, Oh J, Choi JE, Kim H, Lee K, Hwang SK, Lee JH, Lee JA, Kaang BK, Lim CS, Lee YS

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the...
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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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