• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• 융합보안논문지
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• 제10권3호
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• pp.51-60
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• 2010

인터넷 기술의 급격한 발전으로 인한 편리함과 더불어 다양한 악성코드들이 제작되고 있다. 악성코드의 발생건수는 날이 갈수록 부지기수로 늘어나고 있으며, 변종 혹은 새로운 악성코드에 대한 유포는 매우 심각하여 악성코드에 대한 분석은 절실히 필요한 시점이다. 악성코드에 대한 판단기준을 설정할 필요가 있으며, 알고리즘을 이용한 악성코드 분류의 단점은 이미 발견된 악성코드에 대한 분류는 효율적이나 새롭게 생긴 악성코드나 변종된 악성코드에 대해서는 새로운 탐지가 어려운 단점이 있다. 이에 본 연구의 목적은 시각화 기법의 장점을 이용하여 기존의 다변량의 악성코드에 대한 측정 및 분석뿐만 아니라, 변종 혹은 새로운 악성코드에 대해서도 새로운 패턴 혹은 형태를 도출하여 새로운 악성코드와 변종들에 대해서 대처하는데 있다. 따라서 본 논문에서는 업체에서 제공되는 악성코드 속성을 시각화하여 분석하는 기법을 제안하고자 한다.

• 대한전기학회:학술대회논문집
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• 대한전기학회 2006년도 심포지엄 논문집 정보 및 제어부문
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• pp.15-17
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• 2006

This paper presents a new global intensity compensation method for extracting moving object in a visual surveillance system by compensating time variant intensity changes of background region. The method that compensates a little changes of intensity due to time variant illumination change and automatic gain control of camera is called global intensity compensation. The proposed method expresses global intensity change with a mapping table to describe complex form of intensity change while the previous method models this global intensity change with a simple function as a straight line. The proposed method builds the mapping table by calculating the cross histogram between two images and then by selecting an initial point for generating the mapping table by using Hough transform applied to the cross histogram image. Then starting from the initial point, the mapping table is generated according to the proposed algorithm based on the assumption that reflects the characteristic of global intensity change. Experimental results show that the proposed method makes the compensation error much smaller than the previous GIC method

• Imaging Science in Dentistry
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• 제45권4호
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• pp.241-245
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• 2015

The desmoplastic variant of ameloblastoma is a rare form of ameloblastoma characterized by unique radiographic and histologic features. A 46-year-old female was referred to our hospital, complaining of swelling in the left upper lip area. Radiographic findings revealed an ill-defined multilocular lesion with a large cystic lesion and thick sclerotic trabeculae on the left anterior maxilla. After the patient underwent partial osteotomy, histologic analysis revealed a desmoplastic ameloblastoma with no evidence of a hybrid lesion or cyst formation. The radiographic findings in the present case were different from those described in previous case reports. These findings are of special importance due to the unfamiliar radiographic and histologic features of this lesion.

• Clinical and Experimental Reproductive Medicine
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• 제40권4호
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• pp.174-176
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• 2013

Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

• 한국자기공명학회논문지
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• 제27권1호
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• pp.1-4
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• 2023

Transthyretin (TTR) is an indispensable transporter protein of thyroxine and a retinol molecule in humans. TTR has a stable homo-tetrameric structure in its native state, while upon dissociation into monomers, it becomes aggregation-prone and can form an amyloid fibril. Although the amyloidogenic propensity of TTR has been known and investigated since the late 1990s, the structural information regarding TTR's amyloidogenic species is still elusive. Here, we employed high-pressure nuclear magnetic resonance (HP-NMR) approaches on the monomeric variant of TTR (TTR[F87M/L110M]; M-TTR) and observed that it experiences a two-step transition in response to the pressurized condition. Our study demonstrated that M-TTR in an ambient condition has heterogeneous structural features, which is likely related to the amyloidogenic propensity of TTR.

• BMB Reports
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• 제44권1호
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• pp.34-39
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• 2011

Resistance to PAI-1 is a factor which confers clinical benefits in thrombolytic therapy. The only US FDA approved PAI-1 resistant drug is Tenecteplase$^{(R)}$. Deletion variants of t-PA have the advantage of fewer disulfide bonds in addition to higher plasma half lives. A new variant was developed by deletion of the first three domains in t-PA in addition to substitution of KHRR 128-131 amino acids with AAAA in truncated t-PA. The specific activity of this new variant, $570\;IU/{\mu}g$, was found to be similar to those found in full length t-PA (Alteplase$^{(R)}$), $580\;IU/{\mu}g$. A 65% and 85% residual activity after inhibition by rPAI-1 was observed for full length and truncated-mutant form, respectively. This new variant as the first PAI-1 resistant truncated t-PA may offer more advantages in clinical conditions in which high PAI-1 levels makes the thrombolytic system prone to re-occlusion.

• 대한수학회논문집
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• 제32권3호
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• pp.511-522
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• 2017

We explicitly solve the diophantine equations of the form $$A_{n_1}A_{n_2}{\cdots}A_{n_k}{\pm}1=B^2_m$$, where $(A_n)_{n{\geq}0}$ and $(B_m)_{m{\geq}0}$ are either the Fibonacci sequence or Lucas sequence. This extends the result of D. Marques [9] and L. Szalay [13] concerning a variant of Brocard-Ramanujan equation.

• 한국공작기계학회:학술대회논문집
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• 한국공작기계학회 2005년도 춘계학술대회 논문집
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• pp.209-215
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• 2005

The dimensions and forms of precise machined parts are different to kinds of machine. It will be variant according to machine wear, tool form, cutting method and cutting condition at the same machine. At that time, the most important things are controlled and measured by appropriate measuring instruments. This paper aims to contribute to improving measurement accuracy through evaluation and consideration about various roundness in the machining company.

• 중국학논총
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• 제70호
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• pp.109-138
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• 2021

本硏究在'韓·中·日《酉陽雜俎》的同一个異體字中, 對三個版本中共同使用的327个相同或相似的字進行了"筆形的變型·筆形的增减·筆劃的短縮及延長·筆劃的連結及中斷·偏旁的代替·構造及位置的變化"的比較, 由此逐項抽查, 相互攀比對。在'韓·中·日不同《酉陽雜俎》版本中特異的異體字'項目, 三個版本中獨特的異體字按照"筆形的變型·筆劃的增减·筆劃的短縮及延長·筆劃的連結及中斷·偏旁的代替·構造及位置的變化等進行了比較, 由此在不同版本中相互提取了不同版本的比較項目。'在朝鮮簡本《酉陽雜俎》之異體字的多用及特點'項目中, 在對朝鮮簡本《酉陽雜俎》中大量使用異體字及其特征進行分析的同時, 還與唐代前後文字的形態進行了相互比較。