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Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes

Shin YL

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith–Wiedemann syndrome (BWS) and...
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Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

Kang Y, Kim J, Lee HJ, Park HK

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed...
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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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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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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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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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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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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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