• Journal of Genetic Medicine
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• v.21 no.1
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• pp.22-30
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• 2024

Purpose: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of a high number of partial pseudogenes, and the great variety of mutations. We aimed to study the mutation spectrum of NF1 gene in Korean patients with NF1. Materials and Methods: We have analyzed total 69 unrelated patients who were clinically diagnosed with NF1. PCR and sequencing of the NF1 gene was performed in all unrelated index patients. Additionally, multiplex ligation-dependent probe amplification (MLPA) test of the NF1 and SPRED1 gene analysis (sequencing and MLPA test) were performed in patients with negative results from NF1 gene sequencing analysis. Results: Fifty-five different variants were identified in 60 individuals, including six novel variants. The mutations included 36 single base substitutions (15 missense and 21 nonsense), eight splicing mutations, 13 small insertion or deletions, and three gross deletions. Most pathogenic variants were unique. The mutations were evenly distributed across exon one through 58 of NF1, and no mutational hot spots were found. When fulfilling the National Institutes of Health criterion for the clinical diagnosis of NF1, the detection rate was 84.1%. Cafe-au-lait macules were observed in all patients with NF1 mutations. There is no clear relationship between specific mutations and clinical features. Conclusion: This study revealed a wide spectrum and genetic basis of patients with NF1 in Korea. Our results aim to contribute genetic management and counseling.

• Genomics & Informatics
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• v.20 no.3
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• pp.27.1-27.13
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• 2022

Oral squamous cell carcinoma (OSCC) is the most prevalent head and neck malignancy, with frequent cervical lymph-node metastasis, leading to a poor prognosis in OSCC patients. The present study aimed to identify potential markers, including microRNAs (miRNAs) and genes, significantly involved in the etiology of early-stage OSCC. Additionally, the main OSCC's dysregulated Gene Ontology annotations and significant signaling pathways were identified. The dataset GSE45238 underwent multivariate statistical analysis in order to distinguish primary OSCC tissues from healthy oral epithelium. Differentially expressed miRNAs (DEMs) with the criteria of p-value < 0.001 and |Log2 fold change| > 1.585 were identified in the two groups, and subsequently, validated targets of DEMs were identified. A protein interaction map was constructed, hub genes were identified, significant modules within the network were illustrated, and significant pathways and biological processes associated with the clusters were demonstrated. Using the GEPI2 database, the hub genes' predictive function was assessed. Compared to the healthy controls, main OSCC had a total of 23 DEMs. In patients with head and neck squamous cell carcinoma (HNSCC), upregulation of CALM1, CYCS, THBS1, MYC, GATA6, and SPRED3 was strongly associated with a poor prognosis. In HNSCC patients, overexpression of PIK3R3, GIGYF1, and BCL2L11 was substantially correlated with a good prognosis. Besides, "proteoglycans in cancer" was the most significant pathway enriched in the primary OSCC. The present study results revealed more possible mechanisms mediating primary OSCC and may be useful in the prognosis of the patients with early-stage OSCC.

• Applied Microscopy
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• v.34 no.3
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• pp.159-170
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• 2004

Spermiogenesis in the Korean squirrel, Tamias sibiricus, was investigated by transmission electron microscopy. Spermiogenesis was divided into Golgi, cap, acrosome, maturation and spermiation phases based on the characteristics of acrosomal changes and nuclear shape. Beside, the Golgi, cap and acrosomal steps were subdivided into three phases of early, middle and late phase respectively, the maturation step was divided into two phases of early and late phase, and spermiation step has only one phase. Thus, the spermiognesis of T. sibiricus was divided into a total of twelve phases. In Golgi phase (steps 1-3), a well developed Golgi complex was located close to the vesicles, the acrosomal vesicle fixd to a recess of nuclear membrane at step 3. During cap phase (steps 4-6), the acrosomal vesicle spred over the nuclear surface to cover a third of the nucleus, and the acrosomal granule was not yet flattened. At acrosomal phase (steps 7-9), the nucleus and acrosome were elongated but nucleoplasm was not condensed. During maturation phase (steps 10-11), the nucleoplasm was more condensed, and the mitochondria completely arranged the center of axoneme. The spatulate-sperm head was completely formed at spermiation phase (step 12).

• Journal of The Korean Society of Grassland and Forage Science
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• v.19 no.2
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• pp.141-146
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• 1999

This experiment was conducted to investigate the effects of application seasons and the level of cattle slurry on nitrate contents in soils of rye cultivation under climatic conditions of Korea. The main plots were appliaction seasons(100% application in spring, 100% application in autumn, 50% application in spring and autumnn after dividing cattle slurry into two equal parts) and subplots were the levels of cattle slurry-N application(0, 50, 100 and $200kgN\;ha^{-1}\;year^{-1}$). Cattle slurry was spred evenly over the soil surface in spring (end of March) and autumn(early of November). The experiment was done at Gongiam, Kwangju, Kyung-gi for 3 years, from 1994 to 1996. The results obtained are summarized as follows; 1. Nitrate content in soils was not influenced by application seasons of cattle slurry. 2. Nitrate content in soils increased as the level of cattle slurry application increased, and the average nitrate content became 3.6mg per liter. 3. Nitrate content in the soil depth from 0 to 20cm increased as the level of cattle slurry application increased, and the average nitrate content became 28.9mg per liter. However, nitrate content in the soil depth from 40 to 60cm was the lowest(7.5-8.3mg per liter).