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Congenital unilateral hypoplasia of depressor anguli oris muscle in adult

Oh SJ

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist...
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Vagal Transient Receptor Potential Ankyrin 1 Mediates Stress-exacerbated Visceral Mechanonociception After Antral Cold Exposure

Chen X, Luo Q, Yan X, Li W, Chen S

  • KMID: 2454643
  • J Neurogastroenterol Motil.
  • 2019 Jul;25(3):442-460.
  • doi: 10.5056/jnm19014
BACKGROUND/AIMS: Abdominal pain can be evoked or exacerbated after gastrointestinal cold stimulation in some patients with diarrhea-predominant irritable bowel syndrome (IBS-D), indicating a low temperature-induced sensitization of visceral perception. We...
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Antifungal Mechanism of Action of Lauryl Betaine Against Skin-Associated Fungus Malassezia restricta

Do E, Lee HG, Park M, Cho YJ, Kim DH, Park SH, Eun D, Park T, An S, Jung WH

Betaine derivatives are considered major ingredients of shampoos and are commonly used as antistatic and viscosity-increasing agents. Several studies have also suggested that betaine derivatives can be used as antimicrobial...
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Integrative Omics Reveals Metabolic and Transcriptomic Alteration of Nonalcoholic Fatty Liver Disease in Catalase Knockout Mice

Na J, Choi SA, Khan A, Huh JY, Piao L, Hwang I, Ha H, Park YH

The prevalence of nonalcoholic fatty liver disease (NAFLD) has increased with the incidence of obesity; however, the underlying mechanisms are unknown. In this study, high-resolution metabolomics (HRM) along with transcriptomics...
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A PAS-Containing Histidine Kinase is Required for Conidiation, Appressorium Formation, and Disease Development in the Rice Blast Fungus, Magnaporthe oryzae

Shin JH, Gumilang A, Kim MJ, Han JH, Kim KS

Rice blast disease, caused by the ascomycete fungus Magnaporthe oryzae, is one of the most important diseases in rice production. PAS (period circadian protein, aryl hydrocarbon receptor nuclear translocator protein,...
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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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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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Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which...
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Mutation Analysis of Synthetic DNA Barcodes in a Fission Yeast Gene Deletion Library by Sanger Sequencing

Lee M, Choi SJ, Han S, Nam M, Kim D, Kim DU, Hoe KL

Incorporation of unique barcodes into fission yeast gene deletion collections has enabled the identification of gene functions by growth fitness analysis. For fine tuning, it is important to examine barcode...
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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

Hyun JK, Jung YJ

The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and...
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Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis

Yun JM, Na KS, Kim MS, Kim HS, Hwang HB

PURPOSE: To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked...
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Identification of Genes Related to Fungicide Resistance in Fusarium fujikuroi

Choi Y, Jung B, Li T, Lee J

We identified two genes related to fungicide resistance in Fusarium fujikuroi through random mutagenesis. Targeted gene deletions showed that survival factor 1 deletion resulted in higher sensitivity to fungicides, while...
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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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Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report

Lee SH, Ryoo E, Tchah H

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas,...
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X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P

There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion...
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Two cases of TSC2/PKD1 contiguous gene deletion syndrome

You J, Kang E, Kim Y, Lee BH, Ko TS, Kim GH, Choi JH, Yoo HW

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation,...
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Clinicopathological Implications of Mitochondrial Genome Alterations in Pediatric Acute Myeloid Leukemia

Kang MG, Kim YN, Lee JH, Szardenings M, Baek HJ, Kook H, Kim HR, Shin MG

BACKGROUND: To the best of our knowledge, the association between pediatric AML and mitochondrial aberrations has not been studied. We investigated various mitochondrial aberrations in pediatric AML and evaluated their...
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The enhanced expression of IL-17-secreting T cells during the early progression of atherosclerosis in ApoE-deficient mice fed on a western-type diet

Jeon US, Choi JP, Kim YS, Ryu SH, Kim YK

Atherosclerosis is a chronic progressive inflammatory disorder and the leading cause of cardiovascular mortality. Here we assessed the dynamic changes of T-cell-derived cytokines, such as inteferon (IFN)-gamma, interleukin (IL)-17 and...
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A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)

Lee JM, Lee SB, Lee SW, Shim SY, Cho SJ, Park EA, Huh JW

Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose...
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First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome

Yu N, Shin S, Lee KA

No abstract available.
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