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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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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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Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up

Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW

BACKGROUND/AIMS: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the...
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The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea

Han JH, Je YJ, Yoon HJ, Ahn JG, Lee JS, Park JW, Park HJ

Cryopyrin-associated periodic syndrome (CAPS) is a hereditary autoinflammatory syndrome caused by mutations in NLRP3 (encoding cryopyrin), which presents with fever, fatigue and arthralgia. Thus far, however there have been no...
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An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The...
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

Kim HN, Shin MH, Lee R, Park MH, Kweon SS

Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary...
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Clinical Outcomes of EGFR Exon 20 Insertion Mutations in Advanced Non-small Cell Lung Cancer in Korea

Byeon S, Kim Y, Lim SW, Cho JH, Park S, Lee J, Sun JM, Choi YL, Lee SH, Ahn JS, Park K, Ahn MJ

PURPOSE: Epidermal growth factor receptor (EGFR) exon 20 insertion mutations account for approximately 4% of all EGFR mutations. Given the rarity of this mutation, its clinical outcomes are not fully...
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Efficacy and Safety of Afatinib for EGFR-mutant Non-small Cell Lung Cancer, Compared with Gefitinib or Erlotinib

Kim Y, Lee SH, Ahn JS, Ahn MJ, Park K, Sun JM

PURPOSE: We tried to evaluate whether there are any specific features in treatment outcomes of firstline afatinib in patients with epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer (NSCLC),...
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Weak D type 33 Found in a Patient with a Weak D Phenotype: The First Case in Korea

Yu H, Park JE, Park G, Cho D

RHD genotyping is a useful adjunct to serologic testing. Although the use of RHD genotyping in the detection of Asia type DEL in serological D negative Koreans is gradually increasing,...
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Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report

Hyun SE, Choi BS, Jang JH, Jeon I, Jang DH, Ryu JS

Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any...
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Effects of Pre-analytical Variables on Cell-free DNA Extraction for Liquid Biopsy

Jeong TD, Kim MH, Park S, Chung HS, Lee JW, Chang JH, Huh J

BACKGROUND: Extraction of cell-free DNA (cfDNA) is a key step for determining the quality of cfDNA-related molecular diagnostics. We evaluated the effect of sample containers and sample storage conditions on...
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A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

Kim YA, Kim SH, Cheon CK, Kim YM

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene,...
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Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Yu Y, Yang Y, Lu J, Jin Y, Yang Y, Hong E, Shi J, Chen F, Han S, Chu P, Guo Y, Ni X

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4...
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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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