• Journal of Genetic Medicine
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• 제21권1호
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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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• 제20권3호
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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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• 제34권3호
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• pp.159-170
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• 2004

한국산 다람쥐(Tamias sibiricus)의 정자변태 과정을 투과전자현미경으로 조사하였다. 정자변태는 첨체변화와 핵의 형태의 특징을 기초로 하여 골지기, 두모기, 첨체기, 성숙기 그리고 이탈기로 구분하였고, 골지 두모 첨체기는 각각 전 중 후기, 성숙기는 전 후기, 이탈기는 1기로 세분하였다. 따라서 다람쥐(Tamias sibiricus)의 정자변태는 12기(phases)로 구분되어졌다. 골지기(steps 1-3)의 경우, 잘 발달된 골지복합체는 첨체소포가까이에 위치하고, 첨체소포는 3단계에서 핵막과 융합하여 함입되어있다. 두모기(steps 4-6)에서는, 첨체소포가 핵의 표면 위에 넓게 퍼지며 핵의 1/3을 덮고, 첨체과립은 아직 분산되지 않았다. 첨체기(steps 7-9)동안에 있어서, 핵과 첨체는 신장되었으나 핵질은 농축되지 않았다. 성숙기(steps 10-11)에서는 핵질이 더욱 농축되어 졌으며, 미토콘드리아들은 축사의 중심에 완전하게 배열되어졌다. 이탈기(step 12)에서 정자머리는 완전하게 주걱형태의 모양을 갖추고 있었다.

• 한국초지조사료학회지
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• 제19권2호
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• pp.141-146
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• 1999

우리나라 기후조건하에서 액상발효 우분의 시용시기(봄, 가을, 봄/가을 분시)와 시용수준(0, 50, 100, $200kgN\;ha^{-1}$)을 달리 했을 때 토양중의 $NO_3^-$ 함량에 대하여 연구한 결과는 다음과 같다. 1. 액상발효 우분의 시용시기는 토양중 $NO_3^-$ 함량에 영향을 미치지 않았다. 2. 액상발효 우분의 시용수준 증가는 $NO_3^-$ 함량을 증가시켰지만 평균 $3.6mg\;l^{-1}$ 에 불과하였다. 3. 토양의 층별 $NO_3^-$ 함량은 0~20cm 깊이에서는 분뇨시용 수준과 비례하여 증가하였고 그 함량도 평균 $28.9mg\;l^{-1}$에 달하였지만, 40~60cm층에서는 시용 수준에 관계없이 $7.5{\sim}8.3mg\;l^{-1}$으로 매우 낮았다.