- A PAS-Containing Histidine Kinase is Required for Conidiation, Appressorium Formation, and Disease Development in the Rice Blast Fungus, Magnaporthe oryzae
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Shin JH, Gumilang A, Kim MJ, Han JH, Kim KS
- KMID: 2470180
- Mycobiology.
- 2019 Dec;47(4):473-482.
- doi: 10.1080/12298093.2019.1689037
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
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Kim J, Ko JM, Shin SH, Kim EK, Kim HS
- KMID: 2470099
- J Genet Med.
- 2019 Dec;16(2):62-66.
- doi: 10.5734/JGM.2019.16.2.62
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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- Congenital unilateral hypoplasia of depressor anguli oris muscle in adult
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Oh SJ
- KMID: 2456820
- Arch Craniofac Surg.
- 2019 Aug;20(4):265-269.
- doi: 10.7181/acfs.2019.00297
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
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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
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Do E, Lee HG, Park M, Cho YJ, Kim DH, Park SH, Eun D, Park T, An S, Jung WH
- KMID: 2455704
- Mycobiology.
- 2019 Jun;47(2):242-249.
- doi: 10.1080/12298093.2019.1625175
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
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Na J, Choi SA, Khan A, Huh JY, Piao L, Hwang I, Ha H, Park YH
- KMID: 2442004
- Biomol Ther.
- 2019 Feb;27(2):134-144.
- doi: 10.4062/biomolther.2018.175
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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- Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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Hyun JK, Jung YJ
- KMID: 2435953
- J Genet Med.
- 2018 Dec;15(2):115-119.
- doi: 10.5734/JGM.2018.15.2.115
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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- Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S
- KMID: 2422481
- Ann Pediatr Endocrinol Metab.
- 2018 Sep;23(3):158-161.
- doi: 10.6065/apem.2018.23.3.158
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
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Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW
- KMID: 2435972
- J Genet Med.
- 2018 Jun;15(1):38-42.
- doi: 10.5734/JGM.2018.15.1.38
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
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Lee M, Choi SJ, Han S, Nam M, Kim D, Kim DU, Hoe KL
- KMID: 2422818
- Genomics Inform.
- 2018 Jun;16(2):22-29.
- doi: 10.5808/GI.2018.16.2.22
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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- 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
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Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P
- KMID: 2397560
- J Bone Metab.
- 2017 Nov;24(4):257-261.
- doi: 10.11005/jbm.2017.24.4.257
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 Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis
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Yun JM, Na KS, Kim MS, Kim HS, Hwang HB
- KMID: 2388190
- J Korean Ophthalmol Soc.
- 2017 Aug;58(8):993-997.
- doi: 10.3341/jkos.2017.58.8.993
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
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Choi Y, Jung B, Li T, Lee J
- KMID: 2385658
- Mycobiology.
- 2017 Jun;45(2):101-104.
- doi: 10.5941/MYCO.2017.45.2.101
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
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Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW
- KMID: 2419120
- Yonsei Med J.
- 2017 May;58(3):613-618.
- doi: 10.3349/ymj.2017.58.3.613
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
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Lee SH, Ryoo E, Tchah H
- KMID: 2375281
- Pediatr Gastroenterol Hepatol Nutr.
- 2017 Mar;20(1):65-70.
- doi: 10.5223/pghn.2017.20.1.65
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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- Two cases of TSC2/PKD1 contiguous gene deletion syndrome
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You J, Kang E, Kim Y, Lee BH, Ko TS, Kim GH, Choi JH, Yoo HW
- KMID: 2327701
- J Genet Med.
- 2016 Jun;13(1):36-40.
- doi: 10.5734/JGM.2016.13.1.36
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
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Kang MG, Kim YN, Lee JH, Szardenings M, Baek HJ, Kook H, Kim HR, Shin MG
- KMID: 2373508
- Ann Lab Med.
- 2016 Mar;36(2):101-110.
- doi: 10.3343/alm.2016.36.2.101
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
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Jeon US, Choi JP, Kim YS, Ryu SH, Kim YK
- KMID: 2155655
- Exp Mol Med.
- 2015 May;47(5):e163.
- doi: 10.1038/emm.2015.19
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)
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Lee JM, Lee SB, Lee SW, Shim SY, Cho SJ, Park EA, Huh JW
- KMID: 2052170
- Neonatal Med.
- 2015 May;22(2):112-116.
- doi: 10.5385/nm.2015.22.2.112
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
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Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
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