- Evolutionary and Comparative Genomics to Drive Rational Drug Design, with Particular Focus on Neuropeptide Seven-Transmembrane Receptors
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Furlong M, Seong JY
- KMID: 2367619
- Biomol Ther.
- 2017 Jan;25(1):57-68.
- doi: 10.4062/biomolther.2016.199
Seven transmembrane receptors (7TMRs), also known as G protein-coupled receptors, are popular targets of drug development, particularly 7TMR systems that are activated by peptide ligands. Although many pharmaceutical drugs have... -
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- Detection of hydin Gene Duplication in Personal Genome Sequence Data
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Kim JI, Ju YS, Kim S, Hong D, Seo JS
- KMID: 1469575
- Genomics Inform.
- 2009 Sep;7(3):159-162.
Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome... -
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- Congenital leukemia of fetus with acquired AML1 gene duplication
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Kang SY, Lee YJ, Park KH, Jun SE, Kim SC, Joo JK, Kim IS, Lee EY
- KMID: 1841546
- Obstet Gynecol Sci.
- 2014 Jul;57(4):325-329.
- doi: 10.5468/ogs.2014.57.4.325
Congenital leukemia is very rare, and its prevalence according to recently published papers is from 1 to 5 per million live births. This can be often diagnosed in postpartum throughout... -
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- A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report
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Rim JH, Kim JA, Yoo J
- KMID: 2418909
- Yonsei Med J.
- 2017 Nov;58(6):1241-1244.
- doi: 10.3349/ymj.2017.58.6.1241
Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient... -
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- Prenatal detection of de novo inversion of chromosome 9 with duplicated heterochromatic region and postnatal follow-up
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Kim JJ, Rhee HS, Chung YT, Park SY, Choi SK
- KMID: 755041
- Exp Mol Med.
- 1999 Sep;31(3):134-136.
We report the first de novo case of a heterochromatic duplication on the long arm of the chromosome 9, which then was pericentrically inverted at p11q13. This condition was detected prenatally and... -
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- Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye
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Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC
- KMID: 1130046
- J Korean Med Sci.
- 2003 Oct;18(5):727-732.
- doi: 10.3346/jkms.2003.18.5.727
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients... -
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- Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
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Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS
- KMID: 1713470
- J Korean Med Sci.
- 2008 Apr;23(2):328-331.
- doi: 10.3346/jkms.2008.23.2.328
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on... -
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- Comparison of Clinical and Electrophysiological Characteristics between CMTX with Cx32 Missense Mutation and CMT1A with PMP22 Duplication
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Choi BO, Chung KW, Park KD, Kim SM, Shin SH, Sunwoo IN
- KMID: 1956950
- J Korean Neurol Assoc.
- 2004 Jun;22(3):226-234.
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. Connexin32 (Cx32) gene mutations on Xq13.1 cause the X-linked form of CMT disease, and PMP22 gene duplication on 17p11.2-p12... -
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- Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
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Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB
- KMID: 2157987
- J Korean Med Sci.
- 2012 Dec;27(12):1586-1590.
- doi: 10.3346/jkms.2012.27.12.1586
Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently... -
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- Genomic Organization of ht eGene for Human Mig Chemokine
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Lee HH, Park KS
- KMID: 1557236
- Korean J Immunol.
- 1998 Dec;20(4):365-373.
"Mig is a gamma interferon-inducible T cell chemoattractant that is a member of the chemokine family of cytokines. In order to gain a better understanding of the molecular mechanisms that... -
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- Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
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Oh M, Cho IJ, Shin S, Lee ST, Choi JR
- KMID: 2373525
- Ann Lab Med.
- 2016 Mar;36(2):191-193.
- doi: 10.3343/alm.2016.36.2.191
No abstract available. -
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- An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
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Yoon JG, Shin S, Jung JW, Lee ST, Choi JR
- KMID: 2373526
- Ann Lab Med.
- 2016 Mar;36(2):194-196.
- doi: 10.3343/alm.2016.36.2.194
No abstract available. -
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- Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
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Kim MJ, Ahn S, Jeong SH, Jang JH, Han JH, Choi JR, Cho SR
- KMID: 2373538
- Ann Lab Med.
- 2016 May;36(3):263-265.
- doi: 10.3343/alm.2016.36.3.263
No abstract available. -
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- Management of Upper Moiety in Complete Duplex System
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Kim HT, Yoo ES, Chung SK
- KMID: 1873030
- Korean J Urol.
- 2005 Jan;46(1):7-13.
PURPOSE: Our experience of upper moiety in the complete duplex system was retrospectively analyzed to determine its optimum management. MATERIALS AND METHODS: Between 1988 and 2003, 27 patients were treated with... -
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- The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia
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Park S, Park JE, Cho SI, Jeon Y, Park SS, Seong MW
- KMID: 1781447
- Ann Lab Med.
- 2012 Jan;32(1):99-101.
- doi: 10.3343/alm.2012.32.1.99
Hereditary hemolytic anemia comprises a group of disorders in which red blood cells are destroyed faster than they are produced in the bone marrow; various hereditary factors can cause this... -
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