- Characterization of aberrant FHIT transcripts in gastric adenocarcinomas
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Lee SH, Kim CJ, Park HK, Koh JW, Cho MH, Baek MJ, Lee MS
- KMID: 938875
- Exp Mol Med.
- 2001 Sep;33(3):124-130.
Aberrant transcripts of FHIT (fragile histidine triad) have been reported in several types of primary tumors and cell lines, including gastric carcinoma. The role of these aberrant transcripts in tumorigenesis... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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- Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
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Choi HW, Kim HR, Baek HJ, Kook H, Cho D, Shin JH, Suh SP, Ryang DW, Shin MG
- KMID: 2363158
- Ann Lab Med.
- 2015 Jan;35(1):118-122.
- doi: 10.3343/alm.2015.35.1.118
BACKGROUND: Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies. These mutations have been comprehensively... -
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- Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
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Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW
- KMID: 1022044
- Korean J Lab Med.
- 2010 Oct;30(5):516-520.
- doi: 10.3343/kjlm.2010.30.5.516
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA... -
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- HPV E6 antisense induces apoptosis in CaSki cells via suppression of E6 splicing
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Cho CW, Poo H, Cho YS, Cho MC, Lee KA, Lee SJ, Park SN, Kim IK, Jung YK, Choe YK, Yeom YI, Choe IS, Yoon DY
- KMID: 1081466
- Exp Mol Med.
- 2002 May;34(2):159-166.
Cervical cancer is known to be highly associated with viral oncogene E6 and E7 of human papilloma virus. Down-regulation of oncogene expression by antisense-based gene therapy has been extensively studied.... -
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- Recent advances in the diagnosis and management of primary myelofibrosis
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Takenaka K, Shimoda K, Akashi K
- KMID: 2415993
- Korean J Intern Med.
- 2018 Jul;33(4):679-690.
- doi: 10.3904/kjim.2018.033
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) in which dysregulation of the Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathways is the major pathogenic mechanism. Most patients... -
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- Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
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Lee ES, Cho AR, Ki CS
- KMID: 1380094
- Ann Lab Med.
- 2012 Jul;32(4):312-315.
- doi: 10.3343/alm.2012.32.4.312
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene,... -
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- Identification of CD44 splice variant in Korean colorectal cancers and cell lines
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Suh SI, Baek WK, Park JW, Bae OS, Suh MH, Choe BK
- KMID: 1054340
- J Korean Med Sci.
- 1995 Jun;10(3):169-175.
- doi: 10.3346/jkms.1995.10.3.169
CD44 is a glycoprotein expressed in a wide variety of cell types. Recently expression of some alternatively-spliced variants of CD44 transcripts (CD44v) has been suggested to play a potential role... -
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