- A Frameshift Mutation of the Pro-Apoptotic VDAC1 Gene in Cancers with Microsatellite Instability
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Yoo NJ, Park SW, Lee SH
- KMID: 2284251
- Gut Liver.
- 2011 Dec;5(4):548-549.
No abstract available. -
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- Case of D-Variant from a Frameshift Mutation RHD 711delC
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Ma T, Yu H, Jeon S, Cho D, Chun S, Shin MG
- KMID: 2457176
- Korean J Blood Transfus.
- 2019 Aug;30(2):168-173.
- doi: 10.17945/kjbt.2019.30.2.168
D antigens are clinically significant, and routine tests on the D antigen requires the inclusion of weak D testing, which is performed using indirect antihuman immunoglobulin methods. On the other... -
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- A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
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Kim DH, Kim SY, Im M, Lee Y, Seo YJ, Lee JH
- KMID: 2265979
- Ann Dermatol.
- 2013 Feb;25(1):95-98.
- doi: 10.5021/ad.2013.25.1.95
A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of... -
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- Mutation of the Chk1 Gene in Gastric Cancers with Microsatellite Instability
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Lee JH, Cho YG, Song JW, Park CH, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS
- KMID: 2372791
- J Korean Gastric Cancer Assoc.
- 2005 Dec;5(4):260-265.
PURPOSE: The protein kinase Chk1 is required for cell cycle arrest in response to DNA damage and is shown to play an important role in the G2/M checkpoint. The aim... -
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- Frameshift Mutation of MARS Gene Encoding an Aminoacyl-tRNA Synthetase in Gastric and Colorectal Carcinomas with Microsatellite Instability
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Park SW, Kim SS, Yoo NJ, Lee SH
- KMID: 1974153
- Gut Liver.
- 2010 Sep;4(3):430-431.
No abstract available. -
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- A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II
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Boo SH, Song MJ, Kim HJ, Cho YS, Chu H, Ko MH, Chung WH, Kim JW, Hong SH
- KMID: 2278520
- Clin Exp Otorhinolaryngol.
- 2013 Mar;6(1):41-44.
Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has... -
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- Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family
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Park JK, Oh YS, Choi JH, Yoon SK
- KMID: 1793058
- J Korean Med Sci.
- 2013 Sep;28(9):1388-1393.
- doi: 10.3346/jkms.2013.28.9.1388
Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We... -
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- A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)
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Park BM, Kim YO, Kim MK, Woo YJ
- KMID: 2451622
- J Genet Med.
- 2019 Jun;16(1):19-22.
- doi: 10.5734/JGM.2019.16.1.19
The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual... -
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- Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
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Lee SC, Min JW, Kim YM, Chang MC
- KMID: 1709075
- Korean J Endocr Surg.
- 2014 Mar;14(1):7-11.
PURPOSE: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to summarize the characteristics of germline... -
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- Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
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Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH
- KMID: 2148505
- Cancer Res Treat.
- 2015 Jul;47(3):534-538.
- doi: 10.4143/crt.2013.151
We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a... -
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- A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation
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Kim SW, Lee SJ, Kim HS, Kim JY, Jung ED, Jung DS
- KMID: 1497766
- Endocrinol Metab.
- 2010 Dec;25(4):374-377.
- doi: 10.3803/EnM.2010.25.4.374
Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that is characterized by an early stage of either multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor (HPT-JT) syndrome.... -
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- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
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Park JM, Lee YJ, Park JS
- KMID: 2435949
- J Genet Med.
- 2018 Dec;15(2):97-101.
- doi: 10.5734/JGM.2018.15.2.97
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male... -
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- SLC26A4 Mutations in Korean Population
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Kim BG
- KMID: 1963750
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2014 Nov;57(11):733-737.
- doi: 10.3342/kjorl-hns.2014.57.11.733
SLC26A4 mutations are common cause of congenital hearing loss in East Asia. The carrier frequency of SLC26A4 mutations is 1 in 75 in Korean populations. The SLC26A4 mutation spectrum varies... -
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- Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
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Baek JE, Lee SM, Eun HS, Park MS, Park KI, Namgung R, Lee C
- KMID: 2312960
- Neonatal Med.
- 2014 Feb;21(1):64-68.
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition... -
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- Jagged1 mutation analysis in Alagille syndrome patients
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Ko JS, Yang HR, Kim KM, Seo JK
- KMID: 2278564
- Korean J Pediatr.
- 2006 May;49(5):519-522.
- doi: 10.3345/kjp.2006.49.5.519
PURPOSE: Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has... -
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- A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
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Kim HJ, Lee BH, Kim YM, Kim GH, Kim OH, Yoo HW
- KMID: 2055567
- J Genet Med.
- 2012 Jun;9(1):31-34.
- doi: 10.5734/JGM.2012.9.1.31
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings... -
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- A Novel Germline Mutation of MEN1 Gene in a Young-aged Multiple Insulinoma with Hyperparathyroidism
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Park YJ
- KMID: 2308577
- Korean J Endocr Surg.
- 2015 Dec;15(4):99-102.
- doi: 10.16956/kaes.2015.15.4.99
Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia... -
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- Rare Frameshift Mutation Cys475Tyrfs*11 in the BCR/ABL Kinase Domain Contributes to Imatinib Mesylate Resistance in 2 Korean Patients with Chronic Myelogenous Leukemia
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Park SH, Chi HS, Kwon MR, Cho YU, Jang S, Park CJ
- KMID: 2434491
- Ann Lab Med.
- 2012 Nov;32(6):452-454.
No abstract available. -
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- A Case of von Hippel-Lindau Disease Presenting with Pancreatic Neuroendocrine Tumor
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Ohn JH, Kim J, Lee HJ, Seo WW, Hwang-Bo Y, Hong ES, Park JJ, Kim SY
- KMID: 2169131
- Endocrinol Metab.
- 2011 Mar;26(1):89-91.
- doi: 10.3803/EnM.2011.26.1.89
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that results from a germline mutation of the VHL gene. The affected individuals might develop several benign or malignant tumors such... -
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- Mutational Analysis of TTK Gene in Gastric and Colorectal Cancers with Microsatellite Instability
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Ahn CH, Kim YR, Kim SS, Yoo NJ, Lee SH
- KMID: 1972676
- Cancer Res Treat.
- 2009 Dec;41(4):224-228.
PURPOSE: The TTK gene plays a crucial role in regulation of the mitotic checkpoint. The TTK gene has an A9 mononucleotide repeat in the coding sequences, which harbors mutations in... -
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