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14-3-3γ Haploinsufficient Mice Display Hyperactive and Stress-sensitive Behaviors

Kim DE, Cho CH, Sim KM, Kwon O, Hwang EM, Kim HW, Park JY

14-3-3γ plays diverse roles in different aspects of cellular processes. Especially in the brain where 14-3-3γ is enriched, it has been reported to be involved in neurological and psychiatric diseases...
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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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Evolutionary Hypotheses of Mental Disorder and Their Limitations

Park H

Like the body of Hominin, mind is the result of natural selection. Therefore, an evolutionary approach in the biological aspects is essential for an intrinsic understanding of mental disorders. However,...
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Severity of Nonalcoholic Fatty Liver Disease in Type 2 Diabetes Mellitus: Relationship between Nongenetic Factors and PNPLA3/HSD17B13 Polymorphisms

Bellan M, Colletta C, Barbaglia , Salmi L, Clerici R, Mallela VR, Castello L, Saglietti , Carnevale Schianca GP, Minisini R, Pirisi M

BACKGROUND: The prevalence of nonalcoholic fatty liver disease (NAFLD) in patients with type 2 diabetes mellitus (T2DM) is high, though its severity is often underestimated. Our aim is to provide...
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Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Mo EY, Lee JY, Kim SY, Kim MJ, Kim ES, Lee S, Han JH, Moon SD

BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other...
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not...
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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Kim KH, Song JS, Park CW, Ki CS, Heo K

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin...
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Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Choi JY, Kim SE, Lee SE, Kim SC

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential...
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Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

Jang MJ, Lee CG, Kim HJ

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM...
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Ischemic Stroke in a Patient with Heterozygote Fabry's Disease

Yang SW, Choi JC, Kim HW, Jeong JH, Hyun CL, Koh MJ

It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb...
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Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

Huh HJ, Jhun BW, Choi SR, Kim YJ, Yun SA, Nham E, Kong T, Ki CS, Koh WJ

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with...
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Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

Lee CJ, Oum CY, Lee Y, Park S, Kang SM, Choi D, Jang Y, Lee JH, Lee SH

We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from...
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Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism

Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX

The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism...
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A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by...
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Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW

PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries....
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A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

Sagong B, Baek JI, Lee KY, Kim UK

OBJECTIVES: We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female...
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Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G

Kim MS, Cho YU, Jang S, Seo EJ, Im HJ, Park CJ

No abstract available.
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Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis

Zhang S, Wang XB, Han YD, Wang C, Zhou Y, Zheng F

PURPOSE: Numerous studies have assessed the association of SP110 gene variants with tuberculosis (TB), but the results were inconsistent. Through a comprehensive review and meta-analysis, our study aimed to clarify...
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Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

Jin HS, Song HY, Cho SY, Ki CS, Yang SH, Kim OH, Kim SJ

No abstract available.
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First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

Cho YY, Song JS, Park HD, Kim YN, Kim HI, Kim TH, Chung JH, Ki CS, Kim SW

Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to...
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