- Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome
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Oh SJ, Kim SE, Lee SE, Kim SC
- KMID: 2344826
- Ann Dermatol.
- 2016 Aug;28(4):503-505.
- doi: 10.5021/ad.2016.28.4.503
No abstract available. -
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- Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
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Sung JY, Bae EJ, Park S, Kim SY, Hyun YJ, Park SS, Seong MW
- KMID: 1791957
- Ann Lab Med.
- 2014 Sep;34(5):395-398.
- doi: 10.3343/alm.2014.34.5.395
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among... -
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- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear... -
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- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
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Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS
- KMID: 1104807
- Exp Mol Med.
- 2008 Oct;40(5):533-540.
- doi: 10.3858/emm.2008.40.5.533
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause... -
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- Novel foot-and-mouth disease virus in Korea, July-August 2014
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Park JH, Tark D, Lee KN, Lee SY, Ko MK, Lee HS, Kim SM, Ko YJ, Seo MG, Chun JE, Lee MH, Kim B
- KMID: 2152701
- Clin Exp Vaccine Res.
- 2016 Jan;5(1):83-87.
- doi: 10.7774/cevr.2016.5.1.83
Despite nation-wide immunization with O, A, and Asia 1 type vaccines in Republic of Korea, foot-and-mouth disease type O occurred again in July 2014 after three years and three months.... -
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- Growth Hormone Treatment and Its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome
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Kwun C, Cho SY, Maeng SH, Jung YJ, Jin DK
- KMID: 1434713
- Ann Pediatr Endocrinol Metab.
- 2012 Sep;17(3):175-178.
- doi: 10.6065/apem.2012.17.3.175
PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis,... -
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- Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
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Rim JH, Kim SW, Han SH, Yoo J
- KMID: 2345909
- Yonsei Med J.
- 2015 Nov;56(6):1742-1744.
- doi: 10.3349/ymj.2015.56.6.1742
No abstract available. -
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- A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
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Lee EK, Eem YJ, Chung NG, Kim MS, Jeong DC
- KMID: 2353173
- Korean J Pediatr.
- 2013 Jun;56(6):265-268.
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in... -
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- Activation domain in P67phox regulates the steady state reduction of FAD in gp91phox
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Han CH, Lee MH
- KMID: 1103471
- J Vet Sci.
- 2000 Jun;1(1):27-31.
An activation domain in p67(phox) (residues 199-210) is critical for regulating NADPH oxidase activity in cell-free system [10] To determine the steady state reduction of FAD, thioacetamide-FAD was reconstituted in... -
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- Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction
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Jang MA, Lee ST, Oh YL, Kim SW, Chung JH, Ki CS, Kim JW
- KMID: 1381693
- Ann Lab Med.
- 2012 May;32(3):238-241.
- doi: 10.3343/alm.2012.32.3.238
Papillary thyroid carcinoma (PTC) is the most common malignant thyroid tumor, and 36-69% of PTC cases are caused by mutations in the BRAF gene. The substitution of a valine for... -
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- Characterization of yeast deoxyhypusine synthase: PKC-dependent phosphorylation in vitro and functional domain identification
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Kang KR, Chung SI
- KMID: 1029929
- Exp Mol Med.
- 1999 Dec;31(4):210-216.
The biosynthesis of hypusine [Nepsilon-(4-amino-2-hydroxybutyl)-lysine] occurs in the eIF-5A precursor protein through two step posttranslational modification involving deoxyhypusine synthase which catalyzes transfer of the butylamine moiety of... -
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- Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family
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Kim JM, Kim JS, Ki CS, Jeon BS
- KMID: 1980468
- J Clin Neurol.
- 2006 Dec;2(4):268-271.
- doi: 10.3988/jcn.2006.2.4.268
Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in... -
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- F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients
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Jung YY, Ha HI, Jung SH, Lee MG, Lee HW, Yoon JH, Choi JW, Yeh BI
- KMID: 755114
- Exp Mol Med.
- 2001 Mar;33(1):29-31.
Mutations of the transmembrane conductance regulator (CFTR) gene in cystic fibrosis lead to dysfunction of the lung, pancreas, and sweat glands, etc. To investigate the possibility of the relationship between... -
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- Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament
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Wada K, Kanaya K, Murata Y, Kato Y
- KMID: 2270174
- Asian Spine J.
- 2015 Apr;9(2):286-289.
- doi: 10.4184/asj.2015.9.2.286
Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures.... -
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- Sequence Variations of Hepatitis B Virus Promotor Regions in Vertically Transmitted Mother-child Pairs
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Lee CW, Han YN, Lee JH, Lee KC, Ha YM
- KMID: 2275154
- Korean J Pediatr Gastroenterol Nutr.
- 2002 Mar;5(1):39-50.
Hepatitis B viral infection which affect about 10% of Korean population manifests asymptomatic carrier, chronic hepatitis and liver cirrhosis and even associates with hepatocellular carcinoma. Clinical manifestations induced by hepatitis... -
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- Mutation Analysis of the Dystrophin Gene by Application of PCR in Duchenne Muscular Dystrophy
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Han SK, Kim JW, Son BK, Chae JH, Hwang YS
- KMID: 2329228
- J Korean Child Neurol Soc.
- 2000 Dec;8(2):221-230.
PURPOSE: Large rearrangements in the dystrophin gene is detected in about 65-70% of patients by multiplex PCR or Southern blot, although detection of point mutations and microlesions is currently in progress. The... -
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- Weakening of the repressive YY-1 site on the thrombospondin-1 promoter via c-Jun/YY-1 interaction
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Kang JH, Chang SY, Yeom DH, Kim SA, Um SH, Hong KJ
- KMID: 1094074
- Exp Mol Med.
- 2004 Aug;36(4):300-310.
Thrombospondin-1 (TSP-1) level is tightly regulated at the transcriptional level. To determine the detailed molecular mechanisms of TSP-1 expression, nine serial 5'-deletion constructs of the human genomic tsp-1 promoter (nucleotides... -
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- Interplay between Epigenetics and Genetics in Cancer
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Choi JD, Lee JS
- KMID: 2166498
- Genomics Inform.
- 2013 Dec;11(4):164-173.
- doi: 10.5808/GI.2013.11.4.164
Genomic instability, which occurs through both genetic mechanisms (underlying inheritable phenotypic variations caused by DNA sequence-dependent alterations, such as mutation, deletion, insertion, inversion, translocation, and chromosomal aneuploidy) and epigenomic aberrations... -
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- First detection and genetic characterization of porcine parvovirus 7 from Korean domestic pig farms
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Ouh IO, Park S, Lee JY, Song JY, Cho IS, Kim HR, Park CK
- KMID: 2427036
- J Vet Sci.
- 2018 Nov;19(6):855-857.
- doi: 10.4142/jvs.2018.19.6.855
Porcine parvovirus 7 (PPV7) was first detected in Korean pig farms in 2017. The detection rate of PPV7 DNA was 24.0% (30/125) in aborted pig fetuses and 74.9% (262/350) in... -
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- c-kitMutation and Immunohistochemical Expression in Gastrointestinal Stromal Tumors
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Kang DW, Kim JH, Kim DH, Kim KH, Park MJ, Kang DY
- KMID: 2011751
- Korean J Pathol.
- 2003 Aug;37(4):246-254.
BACKGROUND: Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract. The aim of this study is to investigate the correlation among the clinicopathologic features,... -
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