• 한국임상수의학회지
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• 제31권4호
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• pp.313-315
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• 2014

13개월령의 중성화하지 않은 암컷 미니어처 슈나우저 개가 귓바퀴의 소양감, 통증 및 상처치유의 지연을 주증으로 내원하였다. 환자의 혈청 성장호르몬 농도가 참고범위 이하로 측정되었으며 자일라진 자극검사를 통해 뇌하수체 왜소증으로 진단되었다. 보호자가 원하지 않아 성장호르몬 및 프로게스틴 치료는 진행하지 않았으며, 탈모의 개선을 목적으로 멜라토닌 투여를 시작하였다. 멜라토닌 투여 이후, 귓바퀴의 탈모가 개선되는 것을 확인할 수 있었다.

• 대한소아치과학회지
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• 제48권1호
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• pp.50-63
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• 2021

소두증 골형성이상 원발성 왜소증 제 II 형(MOPD II)은 원발성 왜소증의 일종으로 pericentrin 유전자의 돌연변이에 의해 유발되며 상염색체 열성으로 유전된다. 이번 연구는 MOPD II의 임상적 및 방사선학적 소견과 더불어 치아의 물리화학적 특성 및 미세구조에 대한 분석을 목적으로 하였다. MOPD II 환자의 발치된 하악 제2대구치를 대상으로 하였으며 미세 전산화 단층 촬영, 주사형 전자 현미경과 에너지 분산형 분광분석법 및 비커스 미세경도 분석을 이용하여 분석하였다. MOPD II 치아는 정상 치아와 비교 시 치근 및 치수의 이형성을 보였으며 크기가 작았다. 치아의 무기질 밀도는 법랑질에서는 비슷한 값을 보였으며 상아질에서는 치근 1/2 및 치근단 부위에서 MOPD II 치아가 정상 치아보다 작게 나타났다. 미세경도의 비교 시 교두 법랑질과 치근 1/2 및 치근단 부위의 상아질에서 MOPD II 치아의 미세경도가 정상 치아보다 작게 나타났다. 이 연구에서는 MOPD II의 치과적인 특징 및 치아의 물리화학적 특성에 대하여 분석함으로써, 질환의 구강 내 소견에 대한 이해도를 높이고 치과 치료 시 주의점을 확인하여 적절한 치료를 하는데 도움이 되고자 하였다.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.46-50
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• 2016

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.275-275
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• 2022

One of the most widely grown food crops in the world, wheat, is increasing more lodged since for increased rains and winds caused by abnormal climate. During the Green Revolution, shorter wheat cultivars were bred using many Rht genes to increase lodging resistance. However, since only some Rht genes were used for breeding shorter wheat, it may have had a limited impact on wheat breeding and reduced genetic diversity. Therefore, it is essential to search for genes that have breeding potential and affect dwarfism in order to increase the genetic diversity of dwarf characteristics in wheat. In this study, we performed the RNA-seq between 'Keumkang' and 'Komac 5' ('Keumkang' mutant) to analyze the difference in plant height. Differentially expressed genes (DEGs) analysis and Gene function annotation were performed using 265,365,558 mapped reads. Cluster set analysis was performed to compress and select candidate gene DEGs affecting plant height, stem and internode. Gene expression analysis was performed in order to identify the functions of the selected genes by condensing the results of the DEG analysis into a cluster set analysis. This analysis of these plant height-related genes could help reduce plant height, improve lodging resistance, and increase wheat yield. Its application to wheat breeding will also affect the increased genetic diversity of wheat dwarfism.

• 대한소아치과학회지
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• 제37권1호
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• pp.124-129
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• 2010

Seckel 증후군은 상염색체 열성 유전질환으로 태내에서의 성장지연에 따른 출생 후의 소인증, 심한 소두증을 나타내며, 큰 눈과 돌출된 코, 후퇴된 하악을 동반한 새 모양의 안모가 특징적이다. 다른 임상증상으로는 관절의 결함, 내반족, 드문드문 난모발, 비뇨생식기의 이형성, 정신지체, 혈액학적 이상 등이 나타날 수 있다. Seckel 증후군의 구강 내 소견으로는 부정교합, 법랑질 저형성증, 일부 치아의 선천적 결손, 우상치 등이 나타날 수 있다. 본 증례는 Seckel 증후군을 보이는 두 증례에서 발육부전, 새 모양의 안모, 비뇨기과적 기형, 치아의 저형성과 부정교합 등 다양한 전신증상과 구강 내 증상들을 보였기에 이를 보고하는 바이다.

• 방사선산업학회지
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• 제4권3호
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• pp.239-246
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• 2010

The aim of this study is selection of the male-sterile plant for inhibiting transgene flow through gamma-irradiation ($^{60}Co$) at the pollination and fertilization cycle of herbicide-tolerant genetically modified (GM) zoysiagrass (Zoysia japonica Steud.). High frequencies of plant mutations were obtained about 18% from $M_1$ generation at the doses (10 to 50 Gy). We also found that some $M_1$ plants showed male-sterile plants using de-husked seeds and comparison of stainable pollen using $KI-I_2$ solution. Besides the effects of irradiation on pollination and fertilization cycle, various other mutations like dwarf, cold tolerance, increasing grains and mass were observed. Four of dwarfism plants were selected through comparison of morphological characteristic between control and mutants during 4 years. These results demonstrated that the gamma-irradiation on pollination and fertilization cycle is very effective to induce the various mutations, and the male-sterile mutants are useful for controlling transgene flow and developing of high quality turfgasses.

• Journal of Photoscience
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• 제9권2호
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• pp.94-97
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• 2002

Light is one of the most important environmental factors that influence plant growth and development. It does not function independently but exerts its role through coordinated interactions with intrinsic developmental programs, such as hormonal regulation. One typical example is hypocotyl growth in which light signals are modulated through growth hormones. However, the underlying molecular mechanisms are largely unknown. We demonstrated that brassinosteroids play an important role in the light signal transduction in etiolated hypocotyl growth. A light-responsive Ras-like G-protein, Pra2 from pea, physically and functionally interacts with a cytochrome P450 that specifically catalyzes C-2 hydroxylation in brassinosteroid biosynthesis. The cytochrome P450 expression, along with Pra2, is induced in the dark and predominantly localized in the rapidly elongating zone of etiolated pea epicotyls. Transgenic plants with a reduced level of Pra2 exhibit a dark-specific dwarfism, which is completely rescued by brassinosteroid application. On the contrary, overexpression of the cytochrome P450 results in enhanced hypocotyl growth even in the light, which phenocopies the etiolated hypocotyl growth. It is therefore envisioned that Pra2 is a molecular switch that mediates the crosstalk between light and brassinosteroids in the etiolation process.

• Molecules and Cells
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• 제25권1호
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• pp.70-77
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• 2008

Proteome analysis was performed to identify proteins differentially expressed in an Arabidopsis mutant, ntm1-D. In this mutant the NAC transcription factor NTM1 is constitutively expressed and the resultant phenotypic changes include dwarfism, serrated leaves, and altered floral structures, probably due to reduced cell division. Marked elevation of proteins mediating environmental stress responses, including annexin, vegetative storage proteins, beta-glucosidase homolog 1, and glutathione transferases was observed. Overexpression of annexin was confirmed by RT-PCR and Western blotting. These observations suggest that the reduced growth observed in the ntm1-D mutant is caused by enhancement of its stress responses, possibly resulting in a cost in fitness.

• Clinical and Experimental Pediatrics
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• 제51권6호
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• pp.646-649
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• 2008

Hallermann-Streiff 증후군은 새 모양의 두개 기형, 치아 이상, 털 감소증, 피부위축, 선천성 백내장, 양측 소안구증, 비례적 왜소증 등의 7가지 특징을 동반한다. 소하악증이나 후두 연화증으로 인한 상기도 폐쇄가 문제가 되며, 이로 인한 수면 무호흡증이나, 호흡기 감염, 폐성심, 섭식 곤란 등이 자주 나타난다. 전 세계적으로도 150례 정도가 보고되어 있는 드문 질환으로써, 이에 저자들이 경험한 무수정체를 동반한 Hallermann-Strieff 증후군 1례를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.1022-1025
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• 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the $FGFR3$ gene. We confirmed by detection of a R248C mutation in the $FGFR3$ gene in DNA analysis.