• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.25-28
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• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Journal of Life Science
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• v.27 no.8
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• pp.857-863
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• 2017

The FBJ murine osteosarcoma viral oncogene homolog B (FosB) gene is located at chromosome 19, and encodes 43 Kda protein. Functionally, the FosB gene is important for differentiation, development, and pathogenesis. Furthermore, the FosB gene is suggested as possible biomarker for tracing disease prognosis. In this study, we constructed plasmid containing a FosB promoter region and evaluate its promoter activity. We analyzed the putative promoter region in FosB genomic DNA using bioinformatics program, and we found important regulatory elements in 1 Kb upstream from transcription start site (TSS). Therefore, we performed polymerase chain reaction (PCR) amplification on region from-1,555 upstream to +73 of the FosB genomic DNA, and PCR product was inserted into TA vector to create the $TA-1^{st}FosBp$ plasmid. We then prepared the primer sets, which contain a restriction enzyme site for Kpn1 and Nhe1, in order to reinsert into the TA vector to prepare $TA-2^{nd}FosBp$ plasmid. It was finally subcloned into pGL3-luc vector after enzyme cutting. To evaluate whether the cloned plasmid is useful in cell based experiment, we performed luciferase assay with pGL3-FosBp-luctransfection. FosB promoter activity was increased compared to empty vector, and this activity was significantly increased by treatment of doxorubicin and taxol. We obtained consistent data on regulation of FosB gene expression after anticancer drug treatment using Western blot analysis. The results suggest that promoter cloning of the human FosB gene is very useful for studying gene expression and analyzing biomarkers.

• Korean Journal of Microbiology
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• v.20 no.4
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• pp.173-182
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• 1982

From FGSC 159 strain of Aspergillus nidulans, temperature sensitive mutants that are defective in growth and differentiation have been isolated by N-methyl-N'-nitroN-nitrosoguanidine (NTG) treatment. The optimum concentration of NTG and incubation time to get the highest mutation frequency was $100{\mu}g$ per ml and 1 hour, respectively. The survival frequency was 1%. Among the isolated mutants, five strains that were affected in early steps of differentiation were selected for further studies and named smK, smY, smB, smF, and smZ. The execution point of each mutant was determined and the growing pattern of each mutant at the restrictive temperature was observed under the microscope. Growth of mutant was arrested near at the execution point. From genetic analysis, each temperature-sensitive mutants was thought to have a single recessive gene. The genes of smK, smY, smB, smF, and smZ are linked to the chromosome VII, IV, VIII, I, and VI, respectively. It can be concluded that the genes controlling the differentiation are widely dispersed in the genome. From the results of mutant, smK, it is considered that a single gene can affect a function (functions) which act(s) at two different steps during differentiation.

• Asian-Australasian Journal of Animal Sciences
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• v.5 no.1
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• pp.45-49
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• 1992

Bovine drumstick of neutrophil leucocytes was studied on the quantitative and morphological characteristics and was evaluated as a diagnostic measure for bovine freemartin in newborn calves. Nuclear area of neutrophil (A, ${\mu}m^2$) and drumstick area (B, ${\mu}m^2$) were significantly correlated with average diameter of drumstick (ADD, ${\mu}m$) and following regression equations were obtained : $A=45({\pm}3)$ ADD-8, r = 0.74, $s.e.{\pm}0.6$, p < 0.01, $B=1.72({\pm}0.05)$ ADD-0.98, r = 0.93, $s.e.{\pm}0.1$, p < 0.01 Eight female siblings of heterosexual multiplets were diagnosed as freemartin from the results of chromosome analysis. Heterosexual multiplets had a very low frequency of drumstick in the nucleus of neutrophils irrespective of genetic sex. Diameters of drumstick fund in freemartin and male cotwin did not differ from those of normal cows. Examinations of drumstick in 800 neutrophils for both female and male siblings are concluded to be the best way to aid the detection of freemartinism of heterosexual twins at early life.

• Biotechnology and Bioprocess Engineering:BBE
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• v.11 no.2
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• pp.168-172
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• 2006

In this study. the transcriptional features of a 2.8 kb region spanning the sigH and rplA genes of Bacillus subtilis were clarified using synthetic oligonucleotides complementary to the transcripts of the rpmG, secE, nusG, and rplK genes. The 5' ends of three transcripts corresponding to this region were located and mapped on the chromosome via primer extension analysis. Three regions, designated Prg, Pn, and Prk, which partially share the consensus sequence recognized by ${\sigma}^A$ RNA polymerase, were theorized to function as promoter elements. The rpmG and secE genes of B. subtilis were cotranscribed from the designated prg promoter, whereas the nusG and rplK genes were transcribed separately from the Pn and Prk promoters, respectively. Accordingly, the transcriptional features, as well as the gene organization, of the region encompassing the sigH and rplA genes of B. subtilis, including the rpmG-secE-nusG-rplK genes, were determined to be distinct from those of Escherichia coli. Divergences in terms of gene organization and transcriptional features within the relevant region would serve as excellent criteria for the delineation of phylogenetic relationships among bacteria.

• Journal of Microbiology
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• v.39 no.2
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• pp.102-108
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• 2001

DNA damage response has a central role in the maintenance of genomic integrity while mutations in related genes may result in a range of disorders including neoplasic formations. The uvsZl characterized in this report is a navel uvs mutation in Aspergillus nidulans, resulting in a nucleotide excision repair (NER) phenotype: UV-sensitivity before DNA synthesis (quiescent cells), high UV-induced mutation frequency and probable absence of involvement with mitotic and meiotic recombinations. The mutation is recessive and nan-allelic to the previously characterized uvsA101 mutation, also located on the paba-y interval on chromosome I. uvsZl skewed wild-type sensitivity to MMS, which suggests non-involvement of this mutation with BER. Epitasis tests showed that the uvsZ gene product is probably involved in the same repair pathways as UVSB or UVSH proteins. Although mutations in these proteins result in an NER phenotype, UVSB is related with cell cycle control and UVSH is associated with the post-replicational repair pathway. The epistatic interaction among uvsZl and uvsB413 and uvsH77 mutations indicates that different repair systems may be related with the common steps of DNA damage response in Aspergillus nidulans.

• 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.

• Journal of Animal Science and Technology
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• v.66 no.3
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• pp.630-634
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• 2024

Latilactobacillus curvatus CACC879 originated from swine feces in Korea, and its probiotic properties have been analyzed. The complete genome of strain CACC879 contained one chromosome 1,398,247 bp in length and three circular plasmids, namely, pCACC879-1 (591,981 bp), pCACC879-2 (14,542 base pairs [bp]), and pCACC879-3 (45,393 bp). The complete genome encodes a total of 2,077 genes, including 25 rRNA genes and 90 tRNA genes. In addition, probiotic stability- genes acid/bile related to salts tolerance, the biosynthesis of cobalamin (vitamin B12), riboflavin (vitamin B2), and CRISPR/Cas9 were found in the whole genomes. Remarkably, L. curvatus CACC879 contained the antioxidant-related (peroxiredoxin) and bacteriocin-related genes (lysM and blpA). Overall, these results demonstrate that L. curvatus CACC879 is a functional probiotic candidate for animal industry applications.

• Journal of Interdisciplinary Genomics
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• v.6 no.2
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• pp.21-24
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• 2024

The disease gene for delayed puberty is hypothesized to reside within a 3.7 Mb genomic region on chromosome 9, spanning 9q31.2 to 9q31.3, which contains 20 genes. This region aligns with 9q31.3, where the Kallmann syndrome gene is suspected to be located in a patient with a de novo balanced translocation, t(7;9)(p14.1;q31.3). After analyzing the expression patterns and reported genetic variants of the 20 candidate genes, we propose ACTL7A and ACTL7B as strong candidate genes for Kallmann syndrome. Mutation screening of these genes in Kallmann syndrome patients will be essential to confirm their pathological roles in delayed puberty.

• Clinical and Experimental Pediatrics
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• v.49 no.8
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• pp.821-829
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• 2006

Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle and elbow are most frequently affected because their synovial structure is vulnerable to injury compared to other joints. Hemophilia is diagnosed with factor assay. Severe hemophilia is below 1% of FVIII : C, moderate between 1% and 5%, mild over 5%. Carrier detection and prenatal diagnosis have been conducted with RFLP-based linkage analysis and DNA sequencing. Mainstay of treatment is factor replacement therapy so far. Bleedings can be controlled by infusion of factor concentrates. Hemophilc arthropathy and muscle contracture are representative sequelae. Complications of facotor replacement therapy are inhibitor development and infections. Hemophiliacs with inhibitor should be managed with large dose factor concentrate, bypassing agent, ITI and immunosuppression. Ultimately, hemophilia could be cured by gene therapy.