- Molecular genetic characterization of alternatively spliced CD44 transcripts in human stomach carcinoma
-
Kim YS, Chi SG, Kim YW, Park YK, Yoon C
- KMID: 645110
- J Korean Med Sci.
- 1997 Dec;12(6):505-513.
- doi: 10.3346/jkms.1997.12.6.505
CD44 is a member of cell surface glycoproteins which are involved in cell-matrix adhesion and tumor metastasis. Certain types of tumors express complex CD44 isoforms generated by alternative splicing... -
- CITED
-
- Close
- SHARE
-
- Close
- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Genomic organization and expression of parkin in Drosophila melanogaster
-
Bae YJ, Park KS, Kang SJ
- KMID: 1093612
- Exp Mol Med.
- 2003 Oct;35(5):393-402.
We report here the isolation, characterization on genomic structure and expression of the D. melanogaster homolog of human parkin. The 2,122 bp parkin gene sequence contains six exons that form... -
- CITED
-
- Close
- SHARE
-
- Close
- Analysis of the variations in IL-28RA gene and their association with allergic rhinitis
-
Chae SC, Park YR, Li CS, Lee JH, Yang YS, Zhang Q, Kim KS, Chung HT
- KMID: 1094156
- Exp Mol Med.
- 2006 Jun;38(3):302-309.
IL-28RA is one of the important candidate genes for complex trait of genetic diseases, but there is no published information of the genetic variation in this gene. We scanned the... -
- CITED
-
- Close
- SHARE
-
- Close
- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
-
Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca , Ragalmuto , Chiavetta , Micciche S, Romano V
- KMID: 983980
- Exp Mol Med.
- 2010 Feb;42(2):81-86.
- doi: 10.3858/emm.2010.42.2.009
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning... -
- CITED
-
- Close
- SHARE
-
- Close
- 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
- 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.... -
- CITED
-
- Close
- SHARE
-
- Close
- Molecular variations in Th1-specific cell surface gene Tim-3
-
Chae SC, Song JH, Pounsambath P, Yuan HY, Lee JH, Kim JJ, Lee YC, Chung HT
- KMID: 1097110
- Exp Mol Med.
- 2004 Jun;36(3):274-278.
The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3)... -
- CITED
-
- Close
- SHARE
-
- Close
- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
-
Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX
- KMID: 2419100
- Yonsei Med J.
- 2017 Jul;58(4):888-890.
- doi: 10.3349/ymj.2017.58.4.888
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism... -
- CITED
-
- Close
- SHARE
-
- Close
- Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis
-
Shin SY, Kim HY, Kim HJ, Kim HG
- KMID: 2419129
- Yonsei Med J.
- 2017 May;58(3):665-667.
- doi: 10.3349/ymj.2017.58.3.665
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with... -
- CITED
-
- Close
- SHARE
-
- Close
- Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course
-
Cho JT, Guay-Woodford LM
- KMID: 1099795
- J Korean Med Sci.
- 2003 Feb;18(1):65-68.
- doi: 10.3346/jkms.2003.18.1.65
Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of... -
- CITED
-
- Close
- SHARE
-
- Close
- Production of α1,3-galactosyltransferase targeted pigs using transcription activator-like effector nuclease-mediated genome editing technology
-
Kang JT, Kwon DK, Park AR, Lee EJ, Yun YJ, Ji DY, Lee K, Park KW
- KMID: 2363339
- J Vet Sci.
- 2016 Mar;17(1):89-96.
- doi: 10.4142/jvs.2016.17.1.89
Recent developments in genome editing technology using meganucleases demonstrate an efficient method of producing gene edited pigs. In this study, we examined the effectiveness of the transcription activator-like effector nuclease... -
- CITED
-
- Close
- SHARE
-
- Close
