• Title/Summary/Keyword: microphthalmia

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The Suppression Effects of Fat Mass and Obesity Associated Gene on the Hair Follicle-Derived Neural Crest Stem Cells Differentiating into Melanocyte by N6-Methyladenosine Modifying Microphthalmia-Associated Transcription Factor

  • Zhiwei Shang;Haixia Feng;Liye Xia
    • International Journal of Stem Cells
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    • v.16 no.2
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    • pp.135-144
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    • 2023
  • Background and Objectives: Melanocyte (MC), derived from neural crest stem cell (NCSC), are involved in the production of melanin. The mechanism by which NCSC differentiates to MC remains unclear. N6-methyladenosine (m6A) modification was applied to discuss the potential mechanism. Methods and Results: NCSCs were isolated from hair follicles of rats, and were obtained for differentiation. Cell viability, tyrosinase secretion and activity, and transcription factors were combined to evaluated the MC differentiation. RT-qPCR was applied to determine mRNA levels, and western blot were used for protein expression detection. Total m6A level was measured using methylated RNA immunoprecipitation (MeRIP) assay, and RNA immunoprecipitation was used to access the protein binding relationship. In current work, NCSCs were successfully differentiated into MCs. Fat mass and obesity associated gene (FTO) was aberrant downregulated in MCs, and elevated FTO suppressed the differentiation progress of NCSCs into MCs. Furthermore, microphthalmia-associated transcription factor (Mitf), a key gene involved in MC synthesis, was enriched by FTO in a m6A modification manner and degraded by FTO. Meanwhile, the suppression functions of FTO in the differentiation of NCSCs into MCs were reversed by elevated Mitf. Conclusions: In short, FTO suppressed the differentiating ability of hair follicle-derived NCSCs into MCs by m6A modifying Mitf.

A case of Hallermann-Streiff syndrome with aphakia (무수정체안을 동반한 Hallermann-Streiff 증후군 1예)

  • Lee, Myung Chul;Choi, Im Jeong;Jung, Jin Wha
    • Clinical and Experimental Pediatrics
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    • v.51 no.6
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    • pp.646-649
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    • 2008
  • Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.

Multiple congenital ocular defects in a Bedlington terrier dog (Bedlington terrier의 다발성 안기형 1례)

  • Yoo, Sukjong;Ji, Dongbeom;Kim, Hwiyool;Seo, Kangmoon;Jeong, Manbok
    • Korean Journal of Veterinary Research
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    • v.53 no.2
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    • pp.133-136
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    • 2013
  • To report multiple congenital ocular defects in a Bedlington terrier dog aged 2.5 months with blindness. Routine ophthalmic examinations were performed for the clinical signs. Menace responses and cotton ball test were absent in both eyes (OU), but pupillary light reflexes were normal in OU. Slit lamp biomicroscopy reveled corneal dystrophy, posterior subcapsular cataract, microphthalmia in OU and lenticular coloboma in the right eye. In indirect ophthalmoscopy and ultrasonography, retinal detachment and posterior lenticonus were shown in OU. It is the first report of lenticular coloboma and posterior lenticonus in a Bedlington terrier dog.

Amniotic constriction band: a report of two cases with unique clinical presentations

  • Richardson, Sunil;Khandeparker, Rakshit Vijay;Pellerin, Philippe
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.43 no.3
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    • pp.171-177
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    • 2017
  • Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.

Anatomical repair of a bilateral Tessier No. 3 cleft by midfacial advancement

  • Oh, Ji-hyeon;Park, Young-Wook
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.40
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    • pp.9.1-9.4
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    • 2018
  • Background: Bilateral Tessier number 3 clefts are extremely rare, and their surgical treatments have not been well established. Case presentation: The authors describe the case of a patient with a right Tessier number 3, 11 facial cleft with microphthalmia, a left Tessier number 3 facial cleft with anophthalmia, and cleft palate. We repaired simultaneously the bilateral soft tissue clefts by premaxillary repositioning, cleft lip repair, facial cleft repair by nasal lengthening, midfacial advancement, and an upper eyelid transposition flap with repositioning both the medial canthi. Postoperatively, the patient showed an esthetically acceptable face without unnatural scars. Conclusions: We achieved good results functionally and esthetically by midfacial advancement with facial muscle reposition instead of traditional interdigitating Z-plasties. The surgical modality of our anatomical repair and 3 months follow-up results are presented.

Inhibitory effects of Thalictrum rochebrunianum var. grandisepalum on tyrosinase in IBMX-induced B16F10 melanoma cells

  • Jang, Tae-Won;Choi, Ji-Soo;Mun, Jeong-Yun;Im, Jong-Yun;Nam, Su-Hwan;Kim, Do-Wan;Lee, Seung-Hyun;Park, Jae-Ho
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2019.04a
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    • pp.116-116
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    • 2019
  • Thalictrum rochebrunianum var. grandisepalum (TRG) is a Korean endemic plant, and it is widely used for edible, medicinal, landscape materials. In this study, we examined the protein and mRNA expression levels of MITF, tyrosinase, TRP-1 and TRP-2 by TRG extract (TRGE) in IBMX-treated melanocytes to evaluate the possibility of using TRG as a whitening material. IBMX were reported as melanin synthesis enhancers. It could increase intracellular melanin synthesis by activation of the microphthalmia-associated transcription factor (MITF) signaling pathway. TRGE did not show cytotoxicity at concentrations below $100{\mu}g/ml$ in B16F10 cells. TREG dose-dependently inhibited protein and mRNA levels of MITF, tyrosinase, TRP-1 and TRP-2. Therefore, we suggest that TRGE is an important natural resource for cosmetic raw materials for whitening function.

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The Role of Sphingosine-1-phosphate in Melanogenesis

  • Kim, Dong-Seok;Hwang, Eui-Soo;Lee, Jai-Eun;Kwon, Sun-Bang;Park, Kyoung-Chan
    • Proceedings of the PSK Conference
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    • 2003.10b
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    • pp.90.1-90.1
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    • 2003
  • This study shows that sphingosine-1-phosphate (S1P) significantly inhibits melanin synthesis in a concentration-dependent manner, and that the activity of tyrosinase was also reduced in S1P-treated cells. In contrast, a specific extracellular signal-regulated protein kinase (ERK) pathway inhibitor, PD98059 increased tyrosinase activity and melanin production, and PD98059 restored the reduced tyrosinase activity and pigmentation induced by SIP. We also found that S1P induces the sustained activation of ERK and the subsequent degradation of microphthalmia-associated transcription factor (MITF), which plays a key role in melanogenesis. (omitted)

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Whitening activity of Ficus carica L. fruits extract through inhibition of tyrosinase and MITF expression (무화과(Ficus carica L.) 열매 추출물의 tyrosinase 및 MITF 발현 억제를 통한 미백 활성)

  • Min Ji Kim;Si Eun Park;Geun soo Lee;Jin Hwa Kim;Sunwoo Kwon;Hyung Seo Hwang
    • Journal of Applied Biological Chemistry
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    • v.66
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    • pp.204-212
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    • 2023
  • Whitening is inhibitory activity of the melanin synthesis of melanocytes. Recently, whitening materials have been developed on natural materials because of its side effects on skin. Figs (Ficus Carica L.) is a fruit belonging to the Moraceae family and whitening activity was reported in focusing on the fig's stem and leaf components, but whitening activity of the figs fruit was not known. Thus, in this study, we tried to observe its anti-melanogenesis as well as antioxidant and anti-inflammation. The radical scavenging activity of figs fruits extract (FFE) was observed as the level of 34.52±1.98%/60.71±1.26% compared to the control in the its maximum concentration in the DPPH/ABTS assay. Cytotoxicity of FFE was observed at 10% concentration by CCK8 assay, so the maximum concentration was set at 5% and applied to all experiments. FFE concentration dependently decreased NO production associated with inducible nitric oxide synthase, cyclooxygenase-2, interleukin-6 and tumor necrosis factor-α gene expression, these strongly suggesting anti-inflammatory activity. In melanin contents assay, FFE significantly down-regulated melanin production in α-MSH-stimulated B16F10 cell as well as tyrosinase inhibition in vitro. In addition, FFE decreased the Microphthalmia-associated transcription factor (MITF) mRNA expression about 94.34% compared to the α-MSH treatment group in RT-PCR. Finally, FFE significantly reduced the MITF, cAMP response element-binding protein and tyrosinase protein expression in the α-MSH stimulated B16F10 cell. Through these results, we found that FFE can not only directly inhibit tyrosinase enzyme activity but also suppress melanogenesis through regulation of MITF gene expression in α-MSH signal transduction.

The Effects of Polydatin Isolated from Polygonum cuspidatum on Melanogenesis and Wrinkle Formation (호장으로부터 분리한 Polydatin의 미백 및 주름억제 효능에 대한 연구)

  • Jin, Mu-Hyun;Jeong, Eui-Taek;Kim, Mi-Sun;Song, Hye-Jin;Kwak, Taek-jong;Park, Sun-Gyoo;Lee, Sang-Min
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.37 no.4
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    • pp.327-335
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    • 2011
  • 5,4'-dihydroxystilbene-3-O-${\beta}$-D-glucopyranoside (Polydatin) is one of the stilbenes found in Polygonum cuspidatum (P. cuspidatum), however, the effects of polydatin on skin biology remain to be elucidated. In this study, we obtained polydatin from P. cuspidatum and investigated the effects of polydatin in skin-derived melanocytes and fibroblasts. In melanocytes, polydatin inhibited not only the tyrosinase activity and melanin production but the expression of melanogenic factors, tyrosinase and microphthalmia-associated transcription factor (MITF). In addition, the level of type I procollagen in fibroblasts was analyzed, and polydatin significantly induced the production of type I procollagen in a dose-dependent manner. Finally we conformed that topical treatment of polydatin improved wrinkle and induced whitening of human skin in vivo. These data provide evidence that polydatin can be a potent candidate for the improvement of both skin wrinkle and whitening from the point of industry view.

Antioxidant Effect of Nelumbo nucifera G. Leaf Extract and Inhibition of MITF, TRP-1, TRP-2, and Tyrosinase Expression in a B16F10 Melanoma Cell Line (연잎 추출물의 항산화 활성 및 멜라노마 세포(B16F10)에서 MITF, TRP-1, TRP-2, tyrosinase의 발현 저해 효과)

  • Yoo, Dan-Hee;Joo, Da-Hye;Lee, Soo-Yeon;Lee, Jin-Young
    • Journal of Life Science
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    • v.25 no.10
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    • pp.1115-1123
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    • 2015
  • The purpose of this study was to investigate the potential of Nelumbo nucifera G. leaf (NNL) extract as a cosmetic additive. The electron-donating ability of the NNL extract at a concentration of 1,000 μg/ml was 67.83%. In xanthine oxidase, the inhibition effect of the NNL extract was 92.7% at the same concentration. For whitening effects, tyrosinase inhibition effect of NNL extract was 42.7% at a 1,000 μg/ml concentration. The cell toxicity of the NNL extract was examined in melanoma cells (B16F10) using a 3-[4, 5–dimethyl–thiazol–2–yl]-2, 5-diphenyl-tetrazoliumbromide (MTT) assay. The cell toxicity assay revealed that the NNL extract had a toxicity of 81.61% at a concentration of 1,000 μg/ml The microphthalmia-associated transcription factor (MITF), tyrosinase related protein-1 (TRP-1), tyrosinase related protein-2 (TRP-2), and tyrosinase protein expression inhibitory effect by Western blot of NNL extract were measured by a Western blot at concentrations of 25, 50, and 100 μg/ml. At a 100 μg/ml concentration of the NNL extract, the expression of the MITF, TRP-1, TRP-2, and tyrosinase protein was decreased by 69.59%, 27.74%, 67.33%, and 67.78% respectively. The MITF, TRP-1, TRP-2 and tyrosinase mRNA expression inhibitory effect were measured by reverse transcription- polymerase chain reaction (PCR) at concentrations of 25, 50, and 100 μg/ml. GAPDH was used as a positive control. At a concentration of 100 μg/ml of the NNL extract, the expression of MITF, TRP-1, TRP-2, and tyrosinase mRNA was decreased by 67.51%, 71.36%, 85.74%, and 83.64%, respectively. These findings suggest that the NNL extract has antioxidant and whitening effects and that it has great potential as a cosmetic ingredient.