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Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure

Sohn IS, Yoo D, Jang DW, Cha YJ, Kim SN, Lee JY, Yun BI, Chung SC, Park KH, Lee BS, Hwang KJ, Zinn AR

  • KMID: 2077124
  • Korean J Obstet Gynecol.
  • 2004 Aug;47(8):1558-1564.
OBJECTIVE: Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic...
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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

Park SH, Shim SH, Jung YW, Kim DH, Kang SJ, Park SO, Cha DH

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the...
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Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency

Yoon SH, Choi YM

OBJECTIVE: The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study...
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The Study of X Chromosome Inactivation Mechanism in Klinefelter's Syndrome by cDNA Microarray Experiment

Jeong YM, Chung IH, Park JH, Lee SH, Chung TG, Kim YS, Kim NS, Yoo HS, Lee S

  • KMID: 1974008
  • Genomics Inform.
  • 2004 Mar;2(1):30-35.
To investigate the XIST gene expression and its effect in a Klinefelter''s patient, we used Klinefelter''s syndrome (XXY) patient with azoospermia and also used a normal male (XY) and a...
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Epigenetic Study of XIST Gene from Female and Male Cells by Pyrosequencing

Kim HH, Yun YJ, Song MA, Lee S

  • KMID: 2288236
  • Korean J Reprod Med.
  • 2010 Mar;37(1):25-31.
OBJECTIVE: X inactivation is the silencing one of the two X chromosomes in female mammals for gene dosage on the X-chromosome between female and male. X inactivation is controlled by...
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X-linked Gene Expression Profiles by RNAi-Mediated BRCA1 Knockdown in MCF7 Cells

Song MA, Park JH, Ahn HJ, Ko JJ, Lee S

  • KMID: 2284675
  • Genomics Inform.
  • 2005 Dec;3(4):154-158.
Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome...
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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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Clonal Analysis of Neurofibroma by PCR Amplification of HUMARA Gene

Lee JH, Han SS, Oh HS, Choi YD, Kim HJ, Lee KH, Nam JH, Choi C, Juhng SW

  • KMID: 1979371
  • Korean J Pathol.
  • 2003 Dec;37(6):421-428.
BACKGROUND: While neurofibromas have generally been regarded as polyclonal hyperplastic lesions, it remains unclear whether the tumor is a true neoplasm or a hyperplastic lesion. METHODS: Determination of clonality by...
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BRCA1 and Breast Cancer: a Review of the Underlying Mechanisms Resulting in the Tissue-Specific Tumorigenesis in Mutation Carriers

Semmler L, Reiter-Brennan C, Klein A

Since the first cloning of BRCA1 in 1994, many of its cellular interactions have been elucidated. However, its highly specific role in tumorigenesis in the breast tissue—carriers of BRCA1 mutations...
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Clonality Assay of Dysplastic Epithelial Lesions of the Stomach

Choi HS, Kim MS, Park JW, Park CS, Kim YJ, Juhng SW

  • KMID: 2372683
  • J Korean Gastric Cancer Assoc.
  • 2001 Sep;1(3):129-135.
PURPOSE: Dysplasia or flat adenoma of the stomach is regarded as a precancerous lesion. However, the frequency and the evolutionary process of malignant transformation of gastric dysplasia are still debated....
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