- Postoperative Prognostic Predictors of Bile Duct Cancers: Clinical Analysis and Immunoassays of Tissue Microarrays
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Chung HH, Seo SH, Kim H, Kim Y, Kim DW, Lee KH, Lee KT, Heo JS, Han IW, Park SM, Jang KT, Lee JK, Park JK
- KMID: 2538167
- Gut Liver.
- 2023 Jan;17(1):159-169.
- doi: 10.5009/gnl220044
Background/Aims: Cholangiocarcinoma frequently recurs even after curative resection. Expression levels of proteins such as epidermal growth factor receptor (EGFR), Snail, epithelial cadherin (E-cadherin), and interleukin-6 (IL-6) examined by immunohistochemistry have... -
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- Clinical application of prenatal chromosomal microarray
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Seol CA
- KMID: 2537685
- J Genet Med.
- 2022 Dec;19(2):43-48.
- doi: 10.5734/JGM.2022.19.2.43
A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that... -
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- Proximal 16p11.2 Deletion in a Term Infant with Unilateral Microtia and Aural Atresia: A Case Report
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Kim J, Kim WD
- KMID: 2533893
- Perinatology.
- 2022 Sep;33(3):166-169.
- doi: 10.14734/PN.2022.33.3.166
The 16p11.2 deletion phenotype is characterized by developmental delays, intellectual disability and autistic features. In addition, the deletion of 16p11.2 is associated with epilepsy and obesity in childhood. We have... -
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- Chromosomal Microarray Analysis and Pre natal Diagnosis: What Obstetricians Should Know
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Son H, Choi ES, Ju Y, Park JS, Lee SM
- KMID: 2533887
- Perinatology.
- 2022 Sep;33(3):121-126.
- doi: 10.14734/PN.2022.33.3.121
Chromosomal microarray (CMA) is a high-resolution technique that can analyze the entire genome and can detect submicroscopic aberration. CMA can be performed in prenatal settings by using fetal DNA. Compared... -
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- Additional diagnostic value of component resolved diagnosis in children with kiwifruit allergy
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Lee J, Kim H, Jeong K, Jeon SA, Lee S
- KMID: 2529478
- Allergy Asthma Respir Dis.
- 2022 Apr;10(2):105-109.
- doi: 10.4168/aard.2022.10.2.105
Purpose: In food allergy, significant component antigens can be assessed by using the microarray. The purpose of this study was to evaluate the diagnostic value of component resolved diagnosis (CRD)... -
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- Urinary hsv2-miR-H9 to hsa-miR-3659 ratio is an effective marker for discriminating prostate cancer from benign prostate hyperplasia in patients within the prostate-specific antigen grey zone
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Kang HW, Byun YJ, Moon SM, Kim K, Piao XM, Zheng CM, Moon SK, Choi YH, Kim WT, Kim YJ, Lee SC, Yun SJ, Kim WJ
- KMID: 2526896
- Investig Clin Urol.
- 2022 Mar;63(2):238-244.
- doi: 10.4111/icu.20210493
Purpose: Tumor microRNAs (miRNAs) are released to biofluids directly or indirectly. Although urinary miRNAs are promising noninvasive biomarkers for the diagnosis of prostate cancer (PCa), their clinical application is challenging... -
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- A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature
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Ha DJ, Park JS, Jang W, Jung Ny, Kim SJ, Moon Y, Lee J
- KMID: 2524736
- J Genet Med.
- 2021 Dec;18(2):110-116.
- doi: 10.5734/JGM.2021.18.2.110
Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions... -
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- Modeling of endothelial cell dysfunction using human induced pluripotent stem cells derived from patients with end-stage renal disease
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Kim KW, Shin YJ, Kim BM, Cui S, Ko EJ, Lim SW, Yang CW, Chung BH
- KMID: 2524412
- Kidney Res Clin Pract.
- 2021 Dec;40(4):698-711.
- doi: 10.23876/j.krcp.20.252
Background: Endothelial cell (EC) dysfunction is a frequent feature in patients with end-stage renal disease (ESRD). The aim of this study was to generate human induced pluripotent stem cells, differentiate... -
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- Expression profiling of cultured podocytes exposed to nephrotic plasma reveals intrinsic molecular signatures of nephrotic syndrome
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Panigrahi S, Pardeshi VC, Chandrasekaran K, Neelakandan K, PS H, Vasudevan A
- KMID: 2517619
- Clin Exp Pediatr.
- 2021 Jul;64(7):355-363.
- doi: 10.3345/cep.2020.00619
Background: Nephrotic syndrome (NS) is a common renal disorder in children attributed to podocyte injury. However, children with the same diagnosis have markedly variable treatment responses, clinical courses, and outcomes,... -
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- The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
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Jang JA, Sohn YB, Lee JH, Park MS
- KMID: 2517212
- J Genet Med.
- 2021 Jun;18(1):48-54.
- doi: 10.5734/JGM.2021.18.1.48
Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies... -
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- Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
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Park HS, Kim A, Shin KS, Son BR
- KMID: 2517209
- J Genet Med.
- 2021 Jun;18(1):31-37.
- doi: 10.5734/JGM.2021.18.1.31
Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in... -
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- Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus
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Cho SB, Jang JH, Chung MG, Kim SC
- KMID: 2514199
- Diabetes Metab J.
- 2021 Mar;45(2):231-240.
- doi: 10.4093/dmj.2019.0163
Background Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation. Methods We analyzed... -
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- Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities
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Lee JY, Kwon JY, Na S, Choe SA, Seol HJ, Kim M, Kim MA, Park CW, Kim K, Ryu HM, Hwang HS, Shim JY
- KMID: 2510965
- J Korean Med Sci.
- 2021 Jan;36(4):e26.
- doi: 10.3346/jkms.2021.36.e26
The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for... -
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- Transcriptional profiling of mouse cavernous pericytes under high-glucose conditions: Implications for diabetic angiopathy
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Yin GN, Wu J, Cui Y, Lin C, Shi L, Gao ZL, Suh JK, Ryu JK, Jin HR
- KMID: 2509866
- Investig Clin Urol.
- 2021 Jan;62(1):100-110.
- doi: 10.4111/icu.20200272
Purpose: Penile erection requires integrative interactions between vascular endothelial cells, pericytes, smooth muscle cells, and autonomic nerves. Furthermore, the importance of the role played by pericytes in the pathogenesis of... -
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- A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test
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Park CE, Chung ML, Hwang JH, Lee MK
- KMID: 2510275
- Kosin Med J.
- 2020 Dec;35(2):143-150.
- doi: 10.7180/kmj.2020.35.2.143
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial... -
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- 14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
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Kwon JH, Song YH, Yoon JM, Cheon EJ, Ko KO, Lim JW, Kim HJ
- KMID: 2510828
- Neonatal Med.
- 2020 Nov;27(4):207-213.
- doi: 10.5385/nm.2020.27.4.207
14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing... -
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- Novel Antihypertension Mechanism of β-Glucan by Corin and ANP-Mediated Natriuresis in Mice
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Lee SJ, Lee DH, Kim HW
- KMID: 2509088
- Mycobiology.
- 2020 Oct;48(5):399-409.
- doi: 10.1080/12298093.2020.1812150
Many of the β-glucans are known to have antihypertensive activities, but, except for angiotensin-converting enzyme II inhibition, the underlying mechanisms remain unclear. Corin is an atrial natriuretic peptide (ANP)-converting enzyme.... -
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- Transcriptomic profiles and their correlations in saliva and gingival tissue biopsy samples from periodontitis and healthy patients
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Jeon YS, Cha JK, Choi SH, Lee JH, Lee JS
- KMID: 2511806
- J Periodontal Implant Sci.
- 2020 Oct;50(5):313-326.
- doi: 10.5051/jpis.1905460273
Purpose: This study was conducted to analyze specific RNA expression profiles in gingival tissue and saliva samples in periodontitis patients and healthy individuals, and to determine their correlations in light... -
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- Characterization of changes in global gene expression in the hearts and kidneys of transgenic mice overexpressing human angiotensin-converting enzyme 2
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Lee SH, Jee SW, Hwang DY, Kang JK
- KMID: 2507226
- Lab Anim Res.
- 2020 Sep;36(3):177-187.
- doi: 10.1186/s42826-020-00056-y
Human angiotensin-converting enzyme 2 (hACE2) has recently received a great attention due to it play a critical role as SARS-CoV receptor in the infection of human body. However, no further... -
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- Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion
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Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ
- KMID: 2504138
- Lab Med Online.
- 2020 Jul;10(3):255-261.
- doi: 10.3343/lmo.2020.10.3.255
We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had... -
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