• Journal of Veterinary Clinics
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• v.31 no.4
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• pp.313-315
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• 2014

A 13-month old, intact female, miniature Schnauzer dog was presented with history of dermatitis, pruritus and pain of ear pinnae with delayed puberty. The basal serum growth hormone level was 0.01 ng/ml, which was much lower than the reference range (1.80-2.00 ng/ml). On the xylazine stimulation test, the dog was no responsive to administration of xylazine. The dog was diagnosed as isolated type pituitary dwarfism. Treatment was aimed to improve alopecia with oral melatonin. After initiation of treatment, alopecia of the ear pinnae has been improved.

• Journal of the korean academy of Pediatric Dentistry
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• v.48 no.1
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• pp.50-63
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• 2021

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive inherited disorder form of primordial dwarfism, caused by mutations in the pericentrin gene. The purpose of the study was to examine the clinical and radiological features, physicochemical properties and microstructures of the tooth affected with MOPD II. The mandibular 2nd molar was collected from the MOPD II patient. Micro-computerized tomography, scanning electron microscopy, energy dispersive spectrometry and Vickers microhardness analysis were performed on the MOPD II and the normal control. The morphology of the MOPD II tooth appeared to have malformed pulp and root and showed a small size. The mineral density measurement showed that the MOPD II tooth had similar scores in the enamel, but lower scores in the root 1/2 and apical dentin compared to the normal control. The microhardness values were smaller in the cusp enamel, root 1/2 dentin and apical dentin of the MOPD II compared to the normal control. In this study, the dental characteristics and the physicochemical properties of a tooth affected with MOPD II were analyzed to improve understanding of the oral manifestations of the disease and to assist in proper dental treatment by identifying precautions.

• Journal of Genetic Medicine
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• v.13 no.1
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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.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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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.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.1
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• pp.124-129
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• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

• Journal of Radiation Industry
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• v.4 no.3
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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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• v.9 no.2
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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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• v.25 no.1
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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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• v.51 no.6
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• pp.646-649
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• 2008

Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.

• Clinical and Experimental Pediatrics
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• v.53 no.12
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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.