• 한국균학회소식:학술대회논문집
• /
• 2014.05a
• /
• pp.39-39
• /
• 2014

In a homothallic filamentous fungus Aspergillus nidulans, sexual and asexual developments are largely affected by the genetic and environmental factors. To regulate the complex subsets of genes involved in the developmental processes accurately, tight regulations of transcription factors are required. The forkhead type transcription factors are the class of regulators that function in a broad spectrum of cellular and developmental processes in many species from yeast to human. Here, we identified the fkhA and fkhB genes that encode a conserved forkhead transcription factors. The fkhA deletion resulted in the complete loss of fruiting body formation under all conditions favoring sexual development, suggesting that the fkhA gene is required for sexual development in A. nidulans. Overexpression of fkhA resulted in enhanced formation of fruiting bodies under induction condition not only in the normal condition but also in the condition of presence of 0.6 M KCl, which strongly inhibits sexual development. To know the function of the fkhB gene, we also generated fkhB knock-out strain in A. nidulans. Deletion of fkhB resulted in abnormal conidiophore formation under standard conditions and delayed sexual development process, suggesting that the fkhB gene plays an important role in conidiophore morphogenesis Taken together, these results suggest that the fkhA gene is necessary and sufficient for regulating sexual development and the fkhB gene is a transcription factor related in asexual developmental process in A. nidulans.

• Molecules and Cells
• /
• v.27 no.1
• /
• pp.89-97
• /
• 2009

We investigate the molecular and cellular etiologies that underlie the deletion of the six amino acid residues (${\Delta}F323-Y328$; ${\Delta}FY$) in human torsin A (HtorA). The most common and severe mutation involved with early-onset torsion dystonia is a glutamic acid deletion (${\Delta}E$ 302/303; ${\Delta}E$) in HtorA which induces protein aggregates in neurons and cells. Even though ${\Delta}FY$ HtorA forms no protein clusters, flies expressing ${\Delta}FY$ HtorA in neurons or muscles manifested a similar but delayed onset of adult locomotor disability compared with flies expressing ${\Delta}E$ in HtorA. In addition, flies expressing ${\Delta}FY$ HtorA had fewer aberrant ultrastructures at synapses compared with flies expressing ${\Delta}E$ HtorA. Taken together, the ${\Delta}FY$ mutation in HtorA may be responsible for behavioral and anatomical aberrations in Drosophila.

• Mycobiology
• /
• v.49 no.3
• /
• pp.258-266
• /
• 2021

The velvet regulators VosA and VelB are primarily involved in spore maturation and dormancy. Previous studies found that the VosA-VelB hetero-complex coordinates certain target genes that are related to fungal differentiation and conidial maturation in Aspergillus nidulans. Here, we characterized the VosA/VelB-inhibited developmental gene vidD in A. nidulans. Phenotypic analyses demonstrated that the vidD deleted mutant exhibited defect fungal growth, a reduced number of conidia, and delayed formation of sexual fruiting bodies. The deletion of vidD decreased the amount of conidial trehalose, increased the sensitivity against heat stress, and reduced the conidial viability. Moreover, the absence of vidD resulted in increased production of sterigmatocystin. Together, these results show that VidD is required for proper fungal growth, development, and sterigmatocystin production in A. nidulans.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.4 no.1
• /
• pp.12-16
• /
• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• Journal of Microbiology
• /
• v.43 no.3
• /
• pp.244-250
• /
• 2005

The effect of cytochrome $c_{550}$ encoded by cccA in Bacillus subtilis during the event of sporulation was investigated. The sporulation of cccA-overexpressing mutant was significantly accelerated, while disruptant strain showed delayed sporulation in spite of the same growth rate. Activity of sporulation stage-0-specific enzyme, extracellular $\alpha-amylase$ of mutant strains was similar to that of the control strain, but cccA-overexpressing mutant exhibited higher activity of stage-II-specific alkaline phosphatase and stage-III-specific glucose dehydrogenase when compared to deletion mutant and control strain. Northern blot analysis also revealed that cccA-overexpressing mutant showed high level of spo0A transcripts, while the disruptant rarely expressed spo0A. These results suggested that although cytochrome $c_{550}$ is dispensable for growth and sporulation, expression of cccA may play an important role for initiation of sporulation through regulation of spo0A expression.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.7 no.2
• /
• pp.115-118
• /
• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.

• Journal of The Korean Dental Society of Anesthesiology
• /
• v.11 no.1
• /
• pp.51-54
• /
• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• Annals of Clinical Neurophysiology
• /
• v.4 no.2
• /
• pp.125-132
• /
• 2002

Objectives : Although the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is important for correct prognostic evaluation and genetic counseling, the diagnosis is frequently missed or delayed. Our main aim on undertaking this study was to characterize the electrodiagnostic features of HNPP. Material and Methods : Clinical, electrophysiologic and molecular studies were performed on Korean HNPP patients with 17p11.2 deletion. The results of electrophysiologic studies were compared with those of Charcot-Marie-Tooth disease type 1A (CMT1A) patients carrying 17p11.2 duplication. Results : Eight HNPP (50 motor, 39 sensory nerves) and six CMT1A (28 motor, 16 sensory nerves) patients were included. The slowing of sensory conduction in nearly all nerves and the distal accentuation of motor conduction abnormalities are the main features of background polyneuropathy in HNPP. In contrast to CMT1A, where severity of nerve conduction slowing was not different among nerve groups, HNPP sensory nerve conduction was more slowed in the median and ulnar nerves than in the sural nerve (p<0.01), and DML was more prolonged in the median nerve than in the other motor nerves (p<0.01). TLIs were significantly lower in HNPP than in the normal control and CMT1A patients for the median and ulnar nerves (p<0.01), and were also significantly reduced for the peroneal nerve (p<0.05) compared with those of the normal controls. Conclusion : The distribution and severity of the background electrophysiologic abnormalities are closely related to the topography of common entrapment or compression sites, which suggests the possible pathogenetic role of subclinical pressure injury at these sites in the development of the distinct background polyneuropathy in HNPP.

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

• Proceedings of the Ginseng society Conference
• /
• 2002.10a
• /
• pp.185-211
• /
• 2002

We have found many beneficial effects of the long-tenn intake of Korean red ginseng (KRG) in human immunodeficiency virus (HIV) type-I infected patients, including the maintenance of CD4+ T cell count for 10 years with KRG only and the delayed development of resistance mutation to ZDV. In this study, to investigate whether KRG-intake could affect the clinical progression and nef gene variation, we determined 200nef sequences from 70 patients. Follow-up period was $8.8{\pm}2.9$ years and annual decrease in CD4+T cell was $41{\pm}57/ul.$ Nested polymerase chain reaction (PCR) and direct sequencing were perfonned with peripheral blood mononuclear cells (PBMC) obtained at times during the study period. First, there was a significant correlation between survival duration and duration of KRG-intake $(36.8{\pm}38$ months)(P=0.000). There were significant correlations between the last NefProg score and CD4+ T cell count (r= 0.208, P<0.05) and annual decrease in CD4+ T cell count (r =0.346, P<0.01) in 70 patients. In addition, there were significant correlations between KRG-intake and annual decrease (r= 0.323, P<0.01), and the CD4+ T cell count itself (r=0.229, p<0.05). Furthennore, there was also a mild significance between the NefProg score and the duration of KRG-intake in only SP and RP (n=30, r=-0.281, P=0.067). In addition, we detected various defects in 21 patients $(30.0\%),$ not including 5 premature stop codons. Ten $(12.5\%)$ patients showed repeated deletion of an amino acid. Four of 10 patients were gross deletions and they were treated with KRG for more than 20 months. The number of patients with repeated gross deletions was significantly higher in the order of slow progressors $(18\%)$, typical progressors($3\%$), and rapid progressors($0\%$) (P<0.05). We also observed that long-tenn intake of KRG might make the change from A or D to T at position 54 and decrease NefProg score. Taken together, our results show clear evidence that the long-term intake of KRG has effects on nef gene variation as well as definite clinical usefulness.