• Title/Summary/Keyword: DAX1

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A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

  • Lee, Juyeen;Kim, Won Duck;Kim, Hae Sook;Lee, Eun Kyung;Park, Hyung Doo
    • Journal of Genetic Medicine
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    • v.14 no.1
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    • pp.27-30
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    • 2017
  • Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

Distinct Repressive Properties of the Mammalian and Fish Orphan Nuclear Receptors SHP and DAX-1

  • Park, Yun-Yong;Teyssier, Catherine;Vanacker, Jean-Marc;Choi, Hueng-Sik
    • Molecules and Cells
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    • v.23 no.3
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    • pp.331-339
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    • 2007
  • It has been suggested that the structure and function of nuclear receptors are evolutionally conserved. Here, we compare the molecular functions of the nile tilapia (Oreochromis niloticus) small heterodimer partner (nSHP/NR0B2) and the Dosage-sensitive sex reversal AHC critical region on X chromosome gene 1 (nDAX-1/NR0B1) with those of human SHP and DAX-1 (hSHP and hDAX-1, respectively). We found that, upon transient cotransfection of human cells, nDAX-1 repressed the activity of tilapia SF-1 (nSF-1) but not that of human SF-1, although the physical interaction with human SF-1 was retained. Similarly, nSHP repressed the activity of nSF-1, whereas hSHP did not, pointing to divergent evolution of SHP/SF-1 in fish and human. We thus propose that the repressive functions of SHP and DAX-1 have been conserved in fish and mammals although with different transcriptional targets and mechanisms. These differences provide new insights into the physiological diversification of atypical orphan nuclear receptors during vertebrate evolution.

Expression of Sex-Related Genes in the Fetus of Mouse: 2-Bromopropane and Sex Differentiation (생쥐 태자의 성 관련 유전자 발현: 2-Bromopropane과 성 분화)

  • Choi, Donchan;Lim, Sinae;Kim, Pan Gyi;Kim, Dae-Yong;Lee, Young-Soon
    • Development and Reproduction
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    • v.5 no.2
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    • pp.107-114
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    • 2001
  • The recent reports that endocrine disruptors(EDs) bring about abnormalities in reproductive organs and functions of invertebrates suggest that mammals be affected by the EDs. The present study examined the influence of 2-bromopropane(2-BP) by looking at the sexes of litters in mouse. The expression of sex-related genes during sex differentiation was also investigated in the fetus of mouse. The male and female mice were infused with 2-BP for 3 weeks before mating. The litters were sexed at the weaning time from the 4 different groups. The sex-related genes were identified by RT-PCR from the fetuses at gestation 10 days. The sequences of the genes were analysed by comparing to those of other animals. The mean numbers of litters survived by the weaning time were slightly reduced in the only group of both female and male mice treated with 2-BP. The female litters were greater than male litters in the only group of female treated with 2-BP. The other groups showed male litters greater than female litters. The sex-related genes, SRY, DAX1, SF1 , and AMH genes were identified and sequenced, showing 416, 466, 326, 389 base pairs, respectively. All of the genes had the homology of 89~90% with rat and 81~92% with human within the range of bases identified. They were expressed at the time of sex determination. Therefore, it appears that 2-BP somewhat affects the reproductive activity of adult mouse. Influence of 2-BP on the reproductive function is expected to be studied through the expression of the sex-related genes.

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A Chronic-Low-Dose Exposing of DEHP with OECD TG 443 Altered the Histological Characteristics and Steroidogeic Gene Expression of Adrenal Gland in Female Mice

  • Lee, Bo Young;Jo, Jeong Bin;Choi, Donchan;Lee, Sung-Ho;Cheon, Yong-Pil
    • Development and Reproduction
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    • v.25 no.4
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    • pp.257-268
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    • 2021
  • Phthalates and their metabolites are well-known endocrine disrupting chemicals. Di-(2-ethylhexyl) phthalate (DEHP) has been widely used in industry and the exposing possibility to adult is high. In this study, DEHP was treated (133 ㎍/L and 1,330 ㎍/L in drinking water) according to the OECD test guideline 443 to mature female mice and their adrenal gland were examined for histological characteristics and steroidogenic gene expression. The wet weight of the adrenal gland was increased in all administrated groups compared to control. The diameter of zona fasciculata (ZF) was increased by DEHP in both outer ZF and inner ZF but there was no difference in morphology of the cells and arrangements into zona between groups. In addition, the arrangement of extracellular matrix was not different between control and DEHP groups. CYP11B1 was mainly localized at ZF and the intensity was not different between groups. DAX1 was localized in zona glomerulosa (ZG) and ZF, and its expression levels were decreased by DEHP administration. Its level was lower in DEHP133 group than DEHP1330 group. On the other hand, CYP17A1 was localized in ZG of DEHP1330 group. These results suggest that chronic low-dose DEHP exposing may modify the microstructure and function of the adrenal cortical cortex.

Fractional Differencing, Long-memory Dynamics, and Asset Pricing (분수차분 장기기억과정과 증권의 가격결정)

  • Rhee, Il-King
    • The Korean Journal of Financial Management
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    • v.18 no.1
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    • pp.1-21
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    • 2001
  • 주가가 장기기억과정에 의하여 생성되면 주가과정에 가해진 충격은 쌍곡선감소율로 소멸한다. 따라서 충격의 영향이 대단히 느리게 감소하여 충격이 지속성을 가진다. 반면 주가가 단기 기억과정을 따르면 지수율로 감소하여 소멸한다. 지수율감소는 충격의 영향을 급속히 소멸시키므로 충격의 영향이 조만간 소멸한다. 따라서 충격으로 변화된 주가는 평균으로 회귀한다. 충격의 영향이 영원히 존재하는 과정도 존재한다. 장기기억과정은 쪽거리차분과정 또는 분수차분과정이다. 차분모수가 분수일 것이 요구되는 시계열은 장기기억과정이다. 주가가 장기기억과정에 의하여 생성되고 있는지의 여부를 검정하였다. 장기기억과정을 형성시키는 차분모수는 분수차분모수이다. 일별 주가지수의 수익률을 사용하여 차분모수를 추정하였는 바 그 값이 0에 근접하고 있음이 밝혀졌다. 그러나 Kospi, Nasdaq과 Mib30은 장기기억모수가 0에 접근하고 있으나 0이 아니다. 따라서 이 지수들은 장기기억과정에 의하여 생성된다고 할 수 있다. 반면 Dow Jones, S&P 500와 Dax는 장기기억모수가 0이라는 가설이 기각되지 않고 있어 이 지수들은 단기기억과정을 따르고 있다. 따라서 평균회귀과정에 의하여 생성되고 있음을 알 수 있다.

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Effect of intracanal cryotherapy on postendodontic pain: a systematic review and meta-analysis of randomized controlled trials

  • Gupta, Alpa;Aggarwal, Vivek;Gurawa, Alka;Mehta, Namrata;Abraham, Dax;Singh, Arundeep;Jala, Sucheta;Chauhan, Nishant
    • Journal of Dental Anesthesia and Pain Medicine
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    • v.21 no.1
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    • pp.15-27
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    • 2021
  • This systematic review aimed to qualitatively and quantitatively evaluate the effectiveness of cryotherapy in the reduction of postendodontic pain. The review question was, "What will be the success rate of cryotherapy technique among human patients with postendodontic pain?". The review protocol was framed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Six studies were included in the review, and quantification of five studies was performed through a meta-analysis. In the forest plot representation of the studies comparing the control and cryotherapy groups in terms of the success rate in the management of postendodontic pain, the combined risk ratio (RR) was 0.80 (95% CI: 0.56 to 1.13) with a P value of 0.20. Based on the quantitative analysis, it can be suggested that intracanal cryotherapy does not play a significant role in reducing postendodontic pain.

Speciation of Arsenic from Soil Organic Matter in Abandoned Gold and Silver Mines, Korea

  • Ko, Il-Won;Kim, Kyoung-Woong;Hur, Hor-Gil
    • Journal of Applied Biological Chemistry
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    • v.51 no.1
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    • pp.36-44
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    • 2008
  • Organic forms of arsenic (As) were determined through fractionation procedure of soil organic matter (SOM) in soil, sediments and mine tailing samples from the Myungbong, Dongil, and Okdong mining areas of southern Korea. An alkaline extraction method was applied to soil samples followed by the fractionation procedures of SOM by the DAX-8 and XAD-4 resin adsorption method. Major fraction of organic As species (42% to 98%) was found in acid-soluble fraction, whereas minor fraction (0.1 % to 67.8%) was present in the humic-associated As. In acid-soluble fractions, the transphillic- and hydrophilic-associated As were dominant in addition to As binding with humic and fulvic SOM. Arsenic binding was the strongest between pH 6 to 8 and reduced to about 70% at both low and high pH regions. The amount of both transphillic and hydrophillic associated As was less changed than humic and fulvic-associated As, in both low and high pH regions. This apparently indicates that As has stronger affinity towards hydrophillic rather than hydrophobic organics. From the experimental observation of As-binding SOM in natural soil, the ligand exchange model may be a feasible explanation of transphillic and hydrophillic affinity of As.

Anesthetic efficacy of supplemental intraligamentary injection in human mandibular teeth with irreversible pulpitis: a systematic review and meta-analysis

  • Gupta, Alpa;Wadhwa, Jitesh;Aggarwal, Vivek;Mehta, Namrata;Abraham, Dax;Aneja, Kritika;Singh, Arundeep
    • Journal of Dental Anesthesia and Pain Medicine
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    • v.22 no.1
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    • pp.1-10
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    • 2022
  • Background: Inferior alveolar nerve block (IANB) is known to have a lower success rate for anesthesia in patients with irreversible pulpitis. This calls for supplementary techniques to effectively anesthetize such patients. This systematic review aimed to evaluate the published literature for determining the success rate of anesthesia induction using post-IANB intraligamentary (IL) injection in the mandibular teeth of patients with symptomatic irreversible pulpitis. The review question was, "What is the success rate of IL injection in the mandibular teeth of patients with irreversible pulpitis as a supplementary technique for endodontic treatment?" Methods: A thorough search of electronic databases and manual searches were performed. The protocol of the review was framed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist and was registered in the International Prospective Register of Ongoing Systematic Reviews (PROSPERO) with a proper criterion for inclusion and exclusion of studies. The included studies were analyzed using the Cochrane Collaboration "Risk of Bias" tool. A meta-analysis that included a comparison of primary nerve block and supplemental IL injection was performed. The success rate was evaluated using the combined risk ratio (RR) with a random risk model. A funnel plot was created to measure publication bias. Results: After all analyses, four studies were included. In the forest plot representation, RRs were 3.56 (95% CI: 2.86, 4.44), which were in favor of the supplemental IL injections. Statistical heterogeneity was found to be 0%. These values suggest that supplemental IL injections provide better success rates for anesthesia. Conclusion: According to the pooled qualitative and quantitative analyses, supplemental IL injections increased anesthetic efficacy.

Comparison of healing assessments of periapical endodontic surgery using conventional radiography and cone-beam computed tomography: A systematic review

  • Sharma, Garima;Abraham, Dax;Gupta, Alpa;Aggarwal, Vivek;Mehta, Namrata;Jala, Sucheta;Chauhan, Parul;Singh, Arundeep
    • Imaging Science in Dentistry
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    • v.52 no.1
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    • pp.1-9
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    • 2022
  • Purpose: This systematic review aimed to compare assessments of the healing of periapical endodontic surgery using conventional radiography and cone-beam computed tomography (CBCT). Materials and Methods: This review of clinical studies was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. All articles published from 1990 to March 2020 pertaining to clinical and radiographic healing assessments after endodontic surgery using conventional radiography and CBCT were included. The question was "healing assessment of endodontic surgery using cone-beam computed tomography." The review was conducted by manual searching, as well as undertaking a review of electronic literature databases, including PubMed and Scopus. The studies included compared radiographic and CBCT assessments of periapical healing after periapical endodontic surgery. Results: The initial search retrieved 372 articles. The titles and abstracts of these articles were read, leading to the selection of 73 articles for full-text analysis. After the eligibility criteria were applied, 11 articles were selected for data extraction and qualitative analysis. The majority of studies found that CBCT enabled better assessments of healing than conventional radiography, suggesting higher efficacy of CBCT for correct diagnosis and treatment planning. A risk of bias assessment was done for 10 studies, which fell into the low to moderate risk categories. Conclusion: Three-dimensional radiography provides an overall better assessment of healing, which is imperative for correct diagnosis and treatment planning.