- Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
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Chaturvedi LS, Mukherjee , Srivastava S, Mittal RD, Mittal B
- KMID: 1457538
- Exp Mol Med.
- 2001 Dec;33(4):251-256.
Duchenne and Becker muscular dystrophies (D/BMD) are caused by mutations in the dystrophin gene. Two-thirds of patients have large intragenic deletions or duplications and the remaining one-third have point mutations,... -
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- A double point mutation in PCL-gamma1 (Y509A/F510A) enhances Y783 phosphorylation and inositol phospholipid-hydrolyzing activity upon EGF stimulation
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Chung SH, Kim SK, Kim JK, Yang YR, Suh PG, Chang JS
- KMID: 946654
- Exp Mol Med.
- 2010 Mar;42(3):216-222.
- doi: 10.3858/emm.2010.42.3.023
Growth factor stimulation induces Y783 phosphorylation of phosphoinositide-specific PLC-gamma1, and the subsequent activation of this enzyme in a cellular signaling cascade. Previously, we showed that a double point mutation, Y509A/F510A,... -
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- Detection of single nucleotide insertion of BCR/ABL region in imatinib-resistant human myelogenous leukemia SR-1 cells
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Park TH, Kwon HC, Kim HJ, Han JY, Jeong JS, Han H, Seo CY, Kwak JY, Park JI
- KMID: 1089462
- Exp Mol Med.
- 2005 Oct;37(5):507-511.
Imatinib mesylate is a selective Bcr/Abl kinase inhibitor and an effective anticancer agent for Bcr/Abl-positive chronic myelogenous leukemia. Most patients in chronic phase maintain durable responses; however, many in blast... -
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- A point mutant of apolipoprotein A-I, V156K, exhibited potent anti-oxidant and anti-atherosclerotic activity in hypercholesterolemic C57BL/6 mice
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Cho KH, Park SH, Han JM, Kim HC, Chung YJ, Choi I, Kim JR
- KMID: 1094656
- Exp Mol Med.
- 2007 Apr;39(2):160-169.
In our previous study, two point mutants of apolipoprotein A-I, designated V156K and A158E, revealed peculiar characteristics in their lipid-free and lipid-bound states. In order to determine the putative therapeutic... -
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