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Alteration of Genomic Imprinting Status of Human Parthenogenetic Induced Pluripotent Stem Cells during Neural Lineage Differentiation

Lee HJ, Choi NY, Lee SW, Lee Y, Ko K, Kim GJ, Hwang HS, Ko K

BACKGROUND AND OBJECTIVES: Genomic imprinting modulates growth and development in mammals and is associated with genetic disorders. Although uniparental embryonic stem cells have been used to study genomic imprinting, there...
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Evolutionary Hypotheses of Mental Disorder and Their Limitations

Park H

Like the body of Hominin, mind is the result of natural selection. Therefore, an evolutionary approach in the biological aspects is essential for an intrinsic understanding of mental disorders. However,...
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No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

Lee HJ, Jung HW, Lee GM, Kim HY, Kim JH, Lee SH, Kim JH, Lee YA, Shin CH, Yang SW

PURPOSE: Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. METHODS:...
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Regulation and Function of the Peg3 Imprinted Domain

He H, Kim J

A subset of mammalian genes differ functionally between two alleles due to genomic imprinting, and seven such genes (Peg3, Usp29, APeg3, Zfp264, Zim1, Zim2, Zim3) are localized within the 500-kb...
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Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation

Park SW, Do HS, Kim D, Ko JY, Lee SH, Han YM

BACKGROUND AND OBJECTIVES: Genomic imprinting is an inheritance phenomenon by which a subset of genes are expressed from one allele of two homologous chromosomes in a parent of origin-specific manner....
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The Molecular Nature of Very Small Embryonic-Like Stem Cells in Adult Tissues

Kim Y, Jeong J, Kang H, Lim J, Heo J, Ratajczak , Ratajczak , Shin DM

Pluripotent stem cells (PSCs) have been considered as the most important cells in regenerative medicine as they are able to differentiate into all types of cells in the human body....
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Genetic syndromes associated with overgrowth in childhood

Ko JM

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology...
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Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome

Kim JH, Yum MS, Choi HW, Lee EH, You SJ, Ko TS, Yoo HW

  • KMID: 1442115
  • J Korean Child Neurol Soc.
  • 2011 Aug;19(2):150-157.
PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic...
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Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

Jin DK

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic...
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Three Cases of Russell-Silver Syndrome in One of Twins Conceived by In Vitro Fertilization

Cho HJ, Song ES, Kim YH, Song TB, Choi YY

  • KMID: 1472013
  • Korean J Perinatol.
  • 2009 Sep;20(3):266-272.
In vitro fertilization (IVF) is a main option for the infertility treatment and its major concerns are the risk of multiple pregnancy, preterm delivery, intrauterine growth retardation (IUGR), and congenital...
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Epigenetics in Head and Neck Cancer

Park IS

While genetic alterations in head and neck cancer have long been documented, the appreciation of epigenetic changes is more recent. Epigenetics of head and neck cancer becomes an area of...
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Understanding of epigenetics and DNA methylation

Oh JH, Kwon YD, Yoon BW, Choi BJ

  • KMID: 2118379
  • J Korean Assoc Maxillofac Plast Reconstr Surg.
  • 2008 May;30(3):302-309.
Epigenetic is usually referring to heritable traits that do not involve changes to the underlying DNA sequence. DNA methylation is known to serve as cellular memory, and is one...
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Methylation Patterns of Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) Related to the Germ Cell Differentiation of Human Germ Cell Tumors

Jun SY, Kim KR, Choi J, Ro JY

  • KMID: 1521691
  • Korean J Pathol.
  • 2007 Feb;41(1):21-29.
BACKGROUND: The histogenesis and interrelationship of the various types of germ cell tumors (GCTs) have been proposed. Dysgerminoma/seminoma (D/S) is a primitive GCT that has not acquired the potential for...
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Single Nucleotide Polymorphisms of a 16 kb Region on Human Chromosome 11p15.5 that Includes the H19 Gene

Park MH, Ku HJ, Lee HJ, Kim KJ, Park C, Oh B, Kimm KC, Lee JY

  • KMID: 1572676
  • Genomics Inform.
  • 2005 Sep;3(3):74-79.
The H19 gene, located at human chromosome 11p15.5, is imprinted in most normal human tissues. However, imprinting is often lost in tumors suggesting H19 is a putative tumor suppressor. We...
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Epigenetic Alterations and Loss of Imprinting in Colorectal Cancer

Kim JW

  • KMID: 2101396
  • J Korean Soc Coloproctol.
  • 2005 Jun;21(3):181-190.
Two forms of genomic instability have been described in colorectal cancer: chromosomal (CIN) and microsatellite instability (MIN). Colorectal cancer has been considered to progress through one of these two major...
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Cancer Epigenetics

Chang DK

  • KMID: 1113291
  • Korean J Gastroenterol.
  • 2004 Jul;44(1):1-12.
Knowledge regarding molecular events of cancer development has been rapidly accumulated during the last decade. The discovery of tumor suppressor gene-silencing by aberrant promoter CpG island hypermethylation and histone-directed chromatin...
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A Study of Prader-Willi Syndrome and Angelman Syndrome with the Deletion of Same Loci in 15 Chromosome

Kim DS, Shin YL, Ko TS, Seo EJ, Yoo HW

  • KMID: 2177042
  • J Korean Child Neurol Soc.
  • 2002 Nov;10(2):226-234.
PURPOSE: In general, genetic disorders have the numerical or structural abnormalities of chromosome. There are clinically two different disorders, Prader-Willi syndrome(PWS) and Angelman syndrome(AS), which have the deletion of specific...
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The Effect of Parental Imprinting on the INS-IGF2 Locus of Korean Type I Diabetic Patients

Kim HS, Lee DW, Lee SJ, Choi BH, Chang SI, Yoon HD, Lee IK

  • KMID: 759564
  • Korean J Intern Med.
  • 2001 Dec;16(4):223-229.
BACKGROUND: Insulin-dependent diabetes mellitus (IDDM) is caused by the autoimmune destruction of pancreatic beta-cells. Susceptibility to IDDM appears to depend on more than one genetic locus. Evidence of a genetic...
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Correlation between Chromosome Abnormalities and Genomic Imprinting in Developing Human 2) Independent Expression of Imprinted Genes, H19 and Insulin-like growth factor II (IGF2), in Androgenetic Hydatidiform Moles

Chang SI, Choi BH, Lee TS, Kim DK, Lee IH

  • KMID: 2092662
  • Korean J Anat.
  • 1998 Aug;31(4):611-617.
Human uniparental gestations such as androgenetic hydatidiform moles provide a model to evaluate the integrity of parent-specific gene expression,-i.e, genomic imprinting,- in the absence of a complementary parental genetic contribution....
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Frequent Biallelic Expression of Insulin-like Growth Factor II (IGF2) in Gynogenetic Ovarian Teratomas: Uncoupling of H19 and IGF2 Imprinting

Chang SI

  • KMID: 1538084
  • J Genet Med.
  • 1998 Mar;2(1):41-48.
Human uniparental gestations such as gynogenetic ovarian teratomas provide a model to evaluate the integrity of parent-specific gene expression - i.e. imprinting - in the absence of a complementary parental...
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