• Imaging Science in Dentistry
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• 제41권4호
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• pp.167-170
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• 2011

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

• 한국생물환경조절학회:학술대회논문집
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• 한국생물환경조절학회 2001년도 봄 학술발표논문집
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• pp.95-99
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• 2001

플러그묘의 보급이 확산되어지면서 이의 효과적인 생산에 대한 인식이 높아지고 있다. 그러나 대량 생산을 위해 셀 수가 많은 트레이에 종자를 파종할 경우 시간의 경과에 따라 작물은 도장하게 된다는 점이 문제로 나타난다. 묘의 도장방지를 위해서는 개체간 충분한 공간을 두어 육묘하는 것이 좋지만 이 경우 생산비가 증가하게 된다. 이에 대한 공정육묘상의 생육조절방안으로는 상토내 수분ㆍ양분 조절, 주야간 온도차이(Lim등, 1997), 자외선 이용(Inamoto 등, 195), 생장조절제 이용(Gilbertz, 1992; Kacia, 1997) 방법 등이 보고되고 있다. (중략)

• 한국육종학회지
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• 제43권4호
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• pp.260-264
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• 2011

Leaf structure is one of the important agronomic traits. A rolled leaf mutant was induced from an ethyl methane sulfonate (EMS)-treated japonica rice, 'Koshihikari'. The rolled leaf mutant showed phenotypes of reduced leaf width and leaf rolling. In addition, several abnormal morphological characteristics were observed, including dwarfism, defected panicle, delayed germination, and lower seed-setting. Microscopic analysis revealed that the number of small veins was decreased and the sizes of adaxial bulliform cells were reduced in the mutant leaves. The genetic study with two $F_2$ populations from the crosses of the rolled leaf mutant with 'Koshihikari' and Milyang23 suggested that the mutant phenotype might be controlled by a single dominant gene.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.93-97
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• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• BMB Reports
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• 제49권12호
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• pp.693-698
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• 2016

In this study, a tissue-specific GAL4/UAS activation tagging system was used for the characterization of genes which could induce lethality when ubiquitously expressed. A dominant mutant exhibiting stunted growth was isolated and named defective root development 1-D (drd1-D). The T-DNA tag was located within the promoter region of AtTX12, which is predicted to encode a truncated nucleotide-binding leucine-rich repeat (NLR) protein, containing a Toll/interleukin-1 receptor (TIR) domain. The transcript levels of AtTX12 and defense-related genes were elevated in drd1-D, and the misexpression of AtTX12 recapitulated the drd1-D phenotypes. In the presence of ENHANCED DISEASE SUSCEPTIBILITY 1 (EDS1), a key transducer of signals triggered by TIR-type NLRs, a low-level of AtTX12 misexpression induced strong defective phenotypes including seedling lethality whereas, in the absence of EDS1, a high-level of AtTX12 misexpression induced weak growth defects like dwarfism, suggesting that AtTX12 might function mainly in an EDS1-dependent and partially in an EDS1-independent manner.

• Current Research on Agriculture and Life Sciences
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• 제3권
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• pp.8-13
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• 1985

Egremont russet 사과 품종(品種)의 종자에 여러가지 종피(種皮) 파상(破傷)을 한 후 발아(發芽), 유아(幼芽), 유근(幼根)의 생장(生長)과 생리적(生理的)인 왜화(矮花)에 대(對)하여 조사한 결과 다음과 같은 결과를 얻었다. 자엽(子葉)의 크기를 1/2로 절단하고 종피(種皮)를 제거(除去)한 Egremont russet 사과 품종(品種)의 종자(種子)에 $GA_3$를 처리한 것은 평균발아율(平均發芽率)이 55%였으며 동일조건(同一條件)에서 대조구(對照區)는 45%였다. 그리고 종피(種皮)가 완전(完全)한 것과 종피파상(種皮破傷)을 한 구(區)에서는 낮았다. 유아장(幼芽長)은 종피(種皮)를 완전히 남긴 것과 파상(破傷)한 구(區)에 $GA_3$를 처리하였을 때 촉진(促進)되었으나 전체적(全體的)으로 볼 때 종피(種皮)를 제거(除去)한 구(區)에서 더 길었다. 그러나 유근장(幼根長)은 $GA_3$처리에 의(依)해서 억제(抑制)되었으나 유근(幼根)의 직경(直徑)은 더 커졌다. 그리고 생리적(生理的)인 왜화(矮花)는 종피(種皮)를 남긴 구(區)에서 발생(發生)되었으며 $GA_3$ 처리에 의(依)해 극복되지 않았다. 자엽(子葉)의 녹색화(綠色化) 속도는 종피(種皮)를 제거(除去)하고 자엽(子葉)의 크기를 1/2로 절단한 구(區)에서 촉진(促進)되었다.

• The International Journal of Costume Culture
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• 제12권2호
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• pp.121-128
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• 2009

The goal of this study is to investigate the current conditions of apparels for the handicapped, identify the problems and recommend what are appropriate and functional apparels for the handicapped. The research method was to statistically process a survey on 200 handicapped by frequency analysis and cross tabulations. The study results are as follows. First, the degree of discomfort in daily activities was shown during toilet use and eating. Among clothes categories owned by the handicapped, most discomfort was felt in the order of everyday clothes, workout clothes, underwear, athletic shoes and working clothes. Second, children's clothing was most commonly preferred clothing style by handicap for the dwarfism. Comfortable clothes was preferred and relaxed, decent, and unique styles were preferred in the order. Soft feeling texture and absorbency was considered important as preferred clothing material. Third, sizes and designs were improvements wanted by the handicapped in apparel in the order. In addition, they wanted to wear apparel sensitive to the fashion just like the non-handicapped without showing the handicapped parts. There is a necessity for the government or municipalitiesto establish and run protected workplaces or independent workplaces for those who have studied apparel. The field is thought to require continuous and numerous follow-up studies such as researches on different physiques, standardization of apparel, segmentation of sizes and methods of producing custom apparel by function and handicap.

• Molecules and Cells
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• 제19권3호
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• pp.342-349
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• 2005

Cytokinins are adenine derivatives that regulate numerous plant growth and developmental processes, including apical and floral meristem development, stem growth, leaf senescence, apical dominance, and stress tolerance. However, not much is known about how cytokinin biosynthesis and metabolism is regulated. We identified a novel Arabidopsis gene, ALL, encoding an aldolase-like enzyme that regulates cytokinin signaling. An Arabidopsis mutant, all-1D, in which ALL is activated by the nearby insertion of the 35S enhancer, exhibited extreme dwarfism with rolled, dark-green leaves and reduced apical dominance, symptomatic of cytokinin-overproducing mutants. Consistent with this, ARR4 and ARR5, two representative primary cytokinin-responsive genes, were significantly induced in all-1D. Whereas SHOOT MERISTEMLESS (STM) and KNAT1, which regulate meristem development, were also greatly induced, expression of REV and PHV that regulate lateral organ polarity was inhibited. ALL encodes an aldolase-like enzyme that belongs to the HpcH/HpaI aldolase family in prokaryotes and is down-regulated by exogenous cytokinin, possibly through a negative feedback pathway. We propose that ALL is involved in cytokinin biosynthesis or metabolism and acts as a positive regulator of cytokinin signaling during shoot apical meristem development and determination of lateral organ polarity.

• 대한한방소아과학회지
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• 제21권1호
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• pp.155-171
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• 2007

Objectives : The aim of this study was to investigate the treatment of failure to thrive in current Traditional Chinese Medical Journals. Methods : To figure out the failure to thrive, Chinese Medical Journals from China National Knowledge Infrastructure(CNKI) which was published in 1994 to 2005 were analyzed. 矮(小)-whae(so) was searched. Results : Eleven articles were selected. 5 of them were used herbal medicine, and were showed that the total improvement rate was higher than 70% in failure to thrive. 2 of them were used acupuncture, and the last of them were used a therapy of combining Traditional Chinese Medicine with western medicine. Conclusions : The Oriental medical treatments for failure to thrive were presumed to be effective in most articles. But we think that the more studies are needed.