• 음성과학
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• 제13권3호
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• pp.155-167
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• 2006

Hearing impairment children possess poor underlying perceptual knowledge of the sound system and show delayed development of segmental organization of that system. The purpose of this study was to investigate the relationship between phonological awareness ability and word identification ability in hearing impaired children. 14 children with moderately severe hearing loss participated in this study. All tasks were individually administered. Phonological awareness tests consisted of syllable blending, syllable segmentation, syllable deletion, body-coda discrimination, phoneme blending, phoneme segmentation and phoneme deletion. Close-set Monosyllabic Words(12 items) and lists 1 and 2 of open-set Monosyllabic Words in EARS-K were examined for word identification. Results of this study were as follows: First, from the phonological awareness task, the close-set word identification showed a high positive correlation with the coda discrimination, phoneme blending and phoneme deletion. The open-set word identification showed a high positive correlation with phoneme blending, phoneme deletion and phoneme segmentation. Second, from the level of phonological awareness, the close-set word identification showed a high positive correlation with the level of body-coda awareness and phoneme awareness while the open-set word identification showed a high positive correlation only with the level of phoneme awareness.

• Annals of Rehabilitation Medicine
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• 제42권6호
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• pp.884-887
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• 2018

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Journal of Microbiology and Biotechnology
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• 제31권5호
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• pp.676-685
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• 2021

RNA-binding proteins are involved in RNA metabolism and posttranscriptional regulation of various fundamental biological processes. The PUF family of RNA-binding proteins is highly conserved in eukaryotes, and its members regulate gene expression, mitochondrial biogenesis, and RNA processing. However, their biological functions in Aspergillus species remain mostly unknown in filamentous fungi. Here we have characterized the puf genes in the model organism Aspergillus nidulans. We generated deletion mutant strains for the five putative puf genes present in the A. nidulans genome and investigated their developmental phenotypes. Deletion of pufA or pufE affected fungal growth and asexual development. pufA mutants exhibited decreased production of asexual spores and reduced mRNA expression of genes regulating asexual development. The pufE deletion reduced colony growth, increased formation of asexual spores, and delayed production of sexual fruiting bodies. In addition, the absence of pufE reduced both sterigmatocystin production and the mRNA levels of genes in the sterigmatocystin cluster. Finally, pufE deletion mutants showed reduced trehalose production and lower resistance to thermal stress. Overall, these results demonstrate that PufA and PufE play roles in the development and sterigmatocystin metabolism in A. nidulans.

• The Plant Pathology Journal
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• 제22권3호
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• pp.215-221
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• 2006

Gibberella zeae (anamorph: Fusarium graminearum) is an important pathogen of cereal crops. This fungus produces a broad range of secondary metabolites, including polyketides such as aurofusarin (a red pigment) and zearalenone (an estrogenic mycotoxin), which are important mycological characteristics of this species. A screen of G. zeae insertional mutants, generated using a restriction enzyme-mediated integration (REMI) procedure, led to the isolation of a mutant (Z43R606) that produced neither aurofusarin nor zearalenone yet showed normal female fertility and virulence on host plants. Outcrossing analysis confirmed that both the albino and zearalenone-deficient mutations are linked to the insertional vector in Z43R606. Molecular characterization of Z43R606 revealed a deletion of at least 220 kb of the genome at the vector insertion site, including the gene clusters required for the biosynthesis of aurofusarin and zearalenone, respectively. A re-creation of the insertional event of Z43R606 in the wild-type strain demonstrated that the 220-kb deletion is responsible for the phenotypic changes in Z43R606 and that a large region of genomic DNA can be efficiently deleted in G. zeae by double homologous recombination. The results showed that 52 putative genes located in the deleted genomic region are not essential for phenotypes other than the production of both aurofusarin and zearalenone. This is the first report of the molecular characterization of a large genomic deletion in G. zeae mediated by the REMI procedure.

• 미생물학회지
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• 제49권4호
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• pp.419-423
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• 2013

Aspergillus nidulans에는 유성분화를 능동조절하는 nsdD, nsdC 그리고 veA의 3 유전자가 알려져 있다. 이들 유전자의 돌연변이들은 각각을 서로 교배한 이핵체에 cleistothecia를 형성하지 못하기 때문에 이중돌연변이의 분리가 어려웠다. 본 연구에서는 ${\Delta}nsdD$ 돌연변이가 저산소 및 저온조건에서 성숙한 cleistothecia를 형성하는 것을 이용하여 ${\Delta}nsdD$와 ${\Delta}veA$ 및 ${\Delta}nsdD$와 ${\Delta}nsdC$의 이중돌연변이를 분리하였다. 이중돌연변이의 형질을 분석한 결과 nsdD 유전자는 veA 또는 nsdC와 독립적으로 정단성장에 관여하는 것으로 보였다. 색소생성형질은 veA나 nsdC가 nsdD에 대해 상위에 있는 것으로 나타났으며, lactose가 탄소원인 액체배지에서 무성포자를 생성하는 형질이 이중돌연변이에도 보임에 따라 이 형질은 nsdC의 고유한 특성으로 사료된다.

• 말소리와 음성과학
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• 제2권3호
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• pp.65-73
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• 2010

No systematic study has examined the relationship between acoustic variability and /w/-deletion in Korean. Most previous studies on /w/-deletion have described /w/-variants in categorical terms, i.e., /w/-deletion or a full glide (Silva 1991; Kang 1997; Yun 2005). These studies are based either on impressionistic judgements without a systematic acoustic analysis or on an exclusive examination of internal acoustic variability of /w/ such as F2, without examining the availability of external acoustic cues such as voice onset time (VOT) of a consonant. However, given the important influence of the adjacent sounds for segmental realizations, it is necessary to examine possible acoustic variability in the differentiation of /w/-variants. The present study aims to address this issue by evaluating the acoustic properties of /CwV/, including VOT and formant transitions. In the analysis, 432 tokens in word-initial position (216 /CwV/ words and 216 /CV/ words) were examined. The results indicated that /w/ exhibits four different variants. Firstly, /w/ is realized as a full glide. Such a variant is characterized by a VOT difference and significant differences in F1 and F2 at voicing onset compared with /CwV/ and /CV/. Secondly, /w/ can be maintained but coarticulated with the following vowel. Such a variant is demonstrated by differences in VOT and F2. Thirdly, /w/ is categorically deleted, which is indicated by the absence of any differences in VOT, F1, and F2. Fourthly, /w/ overlaps a consonant. The F2 difference without VOT difference is manifested in the variant. In contrast to VOT, F1, and F2 differences, pitch plays little role in determining /w/-variants in Korean. These findings suggest that allophones can be produced along a gradient continuum of acoustic cues, exhibiting sounds intermediate between the full realization of a given category and its deletion. Furthermore, each variant can be cued by a set of internal and external acoustic cues.

• Journal of Microbiology and Biotechnology
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• 제20권1호
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• pp.146-152
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• 2010

Streptomyces clavuligerus NRRL3585 produces a clinically important $\beta$-lactamase inhibitor, clavulanic acid (CA). In order to increase the production of CA, the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene (gap) was deleted in S. clavuligerus NRRL3585 to overcome the limited glyceraldehyde-3-phosphate pool; the replicative and integrative expressions of ccaR (specific regulator of the CA biosynthetic operon) and claR (Lys-type transcriptional activator) genes were transformed together into a deletion mutant to improve clavulanic acid production. We constructed two recombinant plasmids to enhance the production of CA in the gap1 deletion mutant of S. clavuligerus NRRL3585: pHN11 was constructed for overexpression of ccaR-claR, whereas pHN12 was constructed for their chromosomal integration. Both pHN11 and pHN12 transformants enhanced the production of CA by 2.59-fold and 5.85-fold, respectively, compared with the gap1 deletion mutant. For further enhancement of CA, we fed the pHN11 and pHN12 transformants ornithine and glycerol. Compared with the gap1 deletion mutant, ornithine increased CA production by 3.24- and 6.51-fold in the pHN11 and pHN12 transformants, respectively, glycerol increased CA by 2.96- and 6.21-fold, respectively, and ornithine and glycerol together increased CA by 3.72- and 7.02-fold, respectively.

• Animal cells and systems
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• 제3권4호
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• pp.393-397
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• 1999

Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9-bp deletion in the small noncoding segment located between the COII and Iysine tRNA genes (COII/tRNA/$^{Lys}$ intergenic region) which usually contain two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. The mtDNA 9-bp deletion and polymorphic variants of expanded 9-bp repeat motif in the intergenic COII/tRNA$^{Lys}$ region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNA$^{Lys}$ intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9-bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%: Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9-bp deletion. We identified the existence of a new expanded 9-bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII$^{Lys}$ region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.

• Asian-Australasian Journal of Animal Sciences
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• 제17권11호
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• pp.1491-1495
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• 2004

Small Tail Han Sheep has significant characteristics of high prolificacy and non-seasonal ovulatory activity and is an excellent local sheep breed in P. R. China. Recently a novel member of the transforming growth factor $\beta$ (TGF$\beta$) superfamily termed bone morphogenetic protein 15 (BMP15) was shown to be specifically expressed in oocytes and to be essential for female fertility. Therefore, BMP15 is a candidate gene for reproductive performance of Small Tail Han Sheep. The whole genomic nucleotide sequence of BMP15 gene in Small Tail Han Sheep was searched for polymorphisms by PCR-SSCP and direct sequencing, and only one polymorphism was found. The polymorphism was a result of a 3 base pair deletion, which eliminated a single Leu codon (CTT). The allelic frequencies for A (without deletion) and B (with a codon deletion) are 0.73 and 0.27 respectively. The effects of BMP15 genotype on litter size were evaluated using the least squares model. This indicated that there was a significant association between litter size of Small Tail Han Sheep and a deletion in BMP15 gene (p=0.02<0.05). Small Tail Han Sheep ewes with AA and AB genotype produce on average 0.5 and 0.3 more lambs per litter than those ewes with BB genotype.