Publications by authors named "Eun Kyung Ko"

The molecular basis of mullerian aplasia, also known as Mayer-Rokitansky-Kuster Hauser (MRKH) or congenital absence of the uterus and vagina, is largely unknown. We applied a multifaceted genetic approach to studying the pathogenesis of MRKH including exome sequencing of trios and duos, genome sequencing of families, qPCR, RT-PCR, and Sanger sequencing to detect intragenic deletions, insertions, splice variants, single nucleotide variants, and rearrangements in 132 persons with MRKH. We identified two heterozygous variants in ZNHIT3 localized to a commonly involved CNV region at chromosome 17q12 in two different families with MRKH.

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Article Synopsis
  • Chromatin organization is crucial for proper cell differentiation and development, and disruptions in methylation of histone H3 at lysine 36 (H3K36) lead to abnormal changes in epithelial cells.
  • Loss of H3K36 methylation results in increased plasticity and the formation of excessive glandular tissues, such as enlarged salivary and sebaceous glands, as well as a higher risk of squamous tumors.
  • These findings indicate that H3K36 methylation plays a significant role in determining epithelial cell fates and preventing cancer, suggesting potential therapeutic strategies for disorders related to glandular function.
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-methyladenosine (mA) is the most abundant modification on messenger RNAs (mRNAs) and is catalyzed by methyltransferase-like protein 3 (Mettl3). To understand the role of mA in a self-renewing somatic tissue, we deleted in epidermal progenitors in vivo. Mice lacking demonstrate marked features of dysfunctional development and self-renewal, including a loss of hair follicle morphogenesis and impaired cell adhesion and polarity associated with oral ulcerations.

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Recent evidence suggests that the disruption of gene expression by alterations in DNA, RNA, and histone methylation may be critical contributors to the pathogenesis of keratinocyte cancers (KCs), made up of basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC), which collectively outnumber all other human cancers combined. While it is clear that methylation modifiers are frequently dysregulated in KCs, the underlying molecular and mechanistic changes are only beginning to be understood. Intriguingly, it has recently emerged that there is extensive cross-talk amongst these distinct methylation processes.

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Shiga toxin-producing (STEC) strains are important food-borne pathogens that can be transmitted through the consumption of food products derived from pigs. Moreover, antimicrobial resistance in STEC has been a matter of increasing concern. The aim of this study was to investigate the prevalence and antimicrobial characteristics of STEC isolates from pork in Korea.

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Self-renewing somatic tissues depend upon the proper balance of chromatin-modifying enzymes to coordinate progenitor cell maintenance and differentiation, disruption of which can promote carcinogenesis. As a result, drugs targeting the epigenome hold significant therapeutic potential. The histone demethylase, LSD1 (KDM1A), is overexpressed in numerous cancers, including epithelial cancers; however, its role in the skin is virtually unknown.

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Hypothalamic gonadotropin releasing hormone (GnRH) is crucial for the proper function of the hypothalamic-pituitary-gonadal (HPG) axis, subsequent puberty, and reproduction. When GnRH neuron migration or GnRH regulation is impaired, hypogonadotropic hypogonadism results. Mutations in the gene for nasal embryonic luteinizing hormone-releasing factor (NELF) have been identified in GnRH-deficient humans.

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Article Synopsis
  • The hypothalamic-pituitary-gonadal axis, essential for puberty and reproduction, is regulated by GnRH neurons that migrate from the olfactory region to the hypothalamus; disruptions in their formation can lead to delayed puberty and infertility.
  • Mutations in the nuclear protein NELF have been linked to hypogonadotropic hypogonadism, with rare biallelic mutations and common heterozygous mutations often paired with mutations in another gene.
  • Research using a Nelf knockout mouse model revealed that females exhibited delayed vaginal opening and reduced GnRH neuron numbers, while both sexes faced fertility issues, highlighting NELF's role in reproduction and aligning the mouse model findings with human phenotypes for NELF
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The identity of 45 Hanwo and 47 imported beef (non-Hanwoo) samples from USA and Australia were verified using the microsatellite (MS) marker and single nucleotide polymorphism (SNP) methods. Samples were collected from 19 supermarkets located in the city of Seoul and Gyeonggi province, South Korea, from 2009 to 2011. As a result, we obtained a 100% concordance rate between the MS and SNP methods for identifying Hanwoo and non-Hanwoo beef.

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NELF, a protein identified in migratory GnRH neurons, is predominantly nuclear and alternatively spliced. However, specific NELF splice variants expressed in immortalized GnRH neuronal cell lines from mouse and human are not known. RNA from migratory (GN11 and NLT) and postmigratory (GT1-7) cells in mouse, and (FNCB4-hTERT) cells in human was subjected to RT-PCR.

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Chemical investigation of the EtOH extract of Morus alba L. (Moraceae), as guided by free radical scavenging activity, furnished 5,7-dihydroxycoumarin 7-methyl ether (1), two prenylflavones, cudraflavone B (2) and cudraflavone C (3), and oxyresveratrol (4). Compounds 1 and 4 showed superoxide scavenging effects with the IC(50) values of 19.

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