• 제목/요약/키워드: dominant family

검색결과 353건 처리시간 0.035초

STP-C, an Oncoprotein of Herpesvirus saimiri Augments the Activation of NF-κB through Ubiquitination of TRAF6

  • Chung, Young-Hwa;Jhun, Byung-Hak;Ryu, Su-Chak;Kim, Heui-Soo;Kim, Cheol-Min;Kim, Bong-Seok;Kim, Young-Ok;Lee, Sang-Jun
    • BMB Reports
    • /
    • 제40권3호
    • /
    • pp.341-348
    • /
    • 2007
  • Herpesvirus saimiri (HVS), a member of the $\delta$-herpesvirus family, encodes an oncoprotein called Saimiri Transforming Protein (STP) which is required for lymphoma induction in non-human primates. Previous study has shown that STP-C, an oncoprotein of HVS, activates NF-$\kappa$B signaling pathway. However, the detailed mechanism of STP-Cmediated NF-$\kappa$B activation has not been reported yet. We first report that STP-C interacts with TRAF6 protein in vivo and in vitro and further investigation shows that $Glu_{12}$ residue of STP-C is critical for binding to TRAF6. Introduction of ubiquitin together with STP-C augments NF-$\kappa$B activity compared to that of STP-C expression alone. STP-C expression further induces ubiquitination of endogenous TRAF6. In addition, either a deubiquitination enzyme, CYLD or a dominant negative E2-conjugation enzyme reduced NF-$\kappa$B activity in spite of the presence of STP-C, supporting that the interaction between STP-C and TRAF6 induces ubiquitination of TRAF6. NF-$\kappa$B activation by STP-C through the ubiquitinated TRAF6 causes the increased production of IL-8, an inflammatory chemokine and the enhanced expression of costimulatory molecule ICAM, which might ultimately contribute cellular transformation by the exposure of HVS-infected cells with inflammatory microenvironment and chronic activation.

Molecular diagnosis of spinal muscular atrophy

  • Lee, Ki-Sun;Hwang, Hee-Yu;Lee, Key-Hyoung;Park, Moon-Sung;Hahn, Si-Houn;Hong, Chang-Ho
    • Journal of Genetic Medicine
    • /
    • 제1권1호
    • /
    • pp.33-37
    • /
    • 1997
  • Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

  • PDF

Histopathological Profile of Benign Colorectal Diseases in Al-Madinah Region of Saudi Arabia

  • Albasri, Abdulkader Mohammed
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제15권18호
    • /
    • pp.7673-7677
    • /
    • 2014
  • Background: Patients with long-standing inflammatory bowel disease (IBD) have an increased risk of developing colorectal cancer (CRC). Colon cancer risk in IBD increases with longer duration and greater anatomic extent of colitis, the presence of primary sclerosing cholangitis, family history of CRC and degree of inflammation of the bowel. This study aimed to characterize the histopathological pattern of benign colorectal diseases among Saudi patients and to highlight age and gender variations of lesions as base line data for future studies to investigate the link between benign/IBD and colorectal cancers in the local population. Materials and Methods: The materials consisted of 684 biopsies, reported as benign (excluding malignancies and polyps) at the Department of Pathology, King Fahad Hospital, Madinah, Saudi Arabia from January 2006 to December 2013. Data collected and entered in MS-Excel and were analyzed using SPSS-20. Results: Of 684 colorectal tissues reviewed, 408 specimens (59.6%) were from male patients and 276 specimens (40.4%) were from females giving a male: female ratio of 1.5:1. Age of the patients ranged from 4 to 75 years with a mean of 39.6 years. The most frequent histologic diagnosis was a chronic non specific proctocolitis followed by ulcerative colitis, accounting respectively for 52.6% and 31.7% of all cases. These were followed by Crohn's disease 22 (3.2%), ischemic bowel disease 20 (2.9%), diverticular disease 14 (2%), eosinophilic colitis 12 (1.7%) and solitary rectal ulcer 12 (1.7%). A minority of 21 patients (3.1%) were cases of acute nonspecific proctocolitis, schistosomiasis, tuberculosis, volvulus and pseudomembranous colitis. Conclusions: These data show that although chronic non specific proctocolitis and ulcerative colitis were the dominant diagnoses, Crohn's disease, ischemic bowel disease and diverticular disease also existed to a lesser extent and should be considered in the differential diagnosis of benign colorectal diseases. This study provides a base line data for future studies which would be taken up to investigate the link between benign/IBD and colorectal cancers in the local population.

앤드류스 실습림의 토양절지동물의 종류와 분포에 관한 연구 (Studies of the Fauna of Soil Microarthropods in H.J. Andrews Experimental Forest)

  • 우건석
    • 한국응용곤충학회지
    • /
    • 제28권4호
    • /
    • pp.210-220
    • /
    • 1989
  • H.J. Andrews Expt. Forest의 토양절지동물의 분포상을 조사한 결과 Coleoptera가 14과 41종으로 우점군임이 밝혀졌으며, 토양응애는 6과 7종의 분포가 확인되었으며 Typhlodromus, Gymnodamaeus, Phauloppia 및 Scleroribates 등은 계절변동 없이 발생하고 있음이 알려져 구북구계의 발생생태와 차이가 있었다. 기타 곤충군의 발생은 Collembola 4과 16종, Psocoptera 4과 4종, 식균성 총채벌레 3과 16종, Hemiptera 1과 1종, Diptera 3과 6종, Hymenoptera 1과 10종이었다. 산림토양의 절지동물은 산림생산단계의 1차 분해자로 중요한 역할을 수행하며, 부식절이 풍부한 토양조건은 무식생구에 비하여 종다양성은 낮으나 안전도가 높게 나타나 재생산의 주요인자로 해석된다.

  • PDF

유전출혈모세혈관확장증을 가진 가족 1예 (A Familial Case of Hereditary Hemorrhagic Telangiectasia)

  • 김민;송화영;정훈;박이내;최상봉;이현경;이성순;이영민;김수영;김용훈;허진원
    • Tuberculosis and Respiratory Diseases
    • /
    • 제66권4호
    • /
    • pp.314-318
    • /
    • 2009
  • 저자들은 반복적인 코출혈이 있는 가족에서 폐동정맥기형이 있는 동생과 점막의 모세혈관확장증을 가진 형을 경험하고 희귀한 유전질환인 유전출혈모세혈관확장증의 가계도를 확인하였기에 문헌고찰과 함께 보고하는 바이다.

1920-30년대 현모양처에 관한 연구 -현모양처의 두 얼굴, 되어야만 하는 ‘현모’ 되고 싶은 ‘양처’ (Discourse on ‘Wise Mother and Good Wife’ in the 1920′s-1930′s Women′s Ambivalence about the Roles of Wise Mother and Good Wife -)

  • 전미경
    • 가정과삶의질연구
    • /
    • 제22권3호
    • /
    • pp.75-93
    • /
    • 2004
  • This study examined discourses on “wise-mother and good-wife” in the 1920s - 1930s by analyzing the magazine “Shinyeosung.” This study found the following: 1 “Wise-mother and good-wife” was the ideal type for the “new women” during the colonial period. Hut the role of a mother was far more important than that of a wife. 2. The dominant discourse at the time was that the “genuine” new woman was defined by her motherhood, and she could not have a job because raising children was the most Important task for her. Hut in fact, new women wanted to be a wife through free love and marriage. They wished to be a good-wife in the “new (modern) family” for their loving husbands. 3. The Ideas of “wise-mother” and “good-wife” arose from disparate backgrounds. A woman had to nurture her maternal aptitudes; but had to suppress her passion for free love and marriage. Although she had to learn Western methods of bringing up children instead of the traditional one, she was expected to practice traditional virtues of a wife, not Western attitudes. The role of a mother was decided by experts, but that of a wife was decided by husbands. The function of a good-wife was merely a clever handling of her husband, whereas the function of a mother was considered to require professional knowledge. 4. New women could differentiate themselves from “old women” through the roles of wise-mother and good-wife; nonetheless, those roles were forced by society. They did not have any other viable choices.

Removal of Pb(II) from wastewater by biosorption using powdered waste sludge

  • Jang, Hana;Park, Nohback;Bae, Hyokwan
    • Membrane and Water Treatment
    • /
    • 제11권1호
    • /
    • pp.41-48
    • /
    • 2020
  • Lead is a highly toxic heavy metal that causes serious health problems. Nonetheless, it is increasingly being used for industrial applications and is often discharged into the environment without adequate purification. In this study, Pb(II) was removed by powdered waste sludge (PWS) based on the biosorption mechanism. Different PWSs were collected from a submerged moving media intermittent aeration reactor (SMMIAR) and modified Ludzack-Ettinger (MLE) processes. The contents of extracellular polymeric substances were similar, but the surface area of MLE-PWS (2.07 ㎡/g) was higher than that of SMMIAR-PWS (0.82 ㎡/g); this is expected to be the main parameter determining Pb(II) biosorption capacity. The Bacillaceae family was dominant in both PWSs and may serve as the major responsible bacterial group for Pb(II) biosorption. Pb(II) biosorption using PWS was evaluated for reaction time, salinity effect, and isotherm equilibrium. For all experiments, MLE-PWS showed higher removal efficiency. At a fixed initial Pb(II) concentration of 20 mg/L and a reaction time of 180 minutes, the biosorption capacities (qe) for SMMIAR- and MLE-PWSs were 2.86 and 3.07 mg/g, respectively. Pb(II) biosorption using PWS was rapid; over 80% of the maximum biosorption capacity was achieved within 10 minutes. Interestingly, MLE-PWS showed enhanced Pb(II) biosorption with salinity values of up to 30 g NaCl/L. Linear regression of the Freundlich isotherm revealed high regression coefficients (R2 > 0.968). The fundamental Pb(II) biosorption capacity, represented by the KF value, was consistently higher for MLE-PWS than SMMIAR-PWS.

Neurofibromatosis type 1: a single center's experience in Korea

  • Kim, Min Jeong;Cheon, Chong Kun
    • Clinical and Experimental Pediatrics
    • /
    • 제57권9호
    • /
    • pp.410-415
    • /
    • 2014
  • Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

경북지방(慶北地方)의 묘지(墓地)에 분포(分布)하는 잡초종(雜草種) (Weeds Identified in the Buryingplaces of the Kyungpook Probince)

  • 김길웅;신동현;권순태;박상조;이성중
    • 한국잡초학회지
    • /
    • 제13권2호
    • /
    • pp.164-172
    • /
    • 1993
  • 1992년(年) 6월(月)과 9월(月)에 경북지방(慶北地方)의 묘지에 분포하는 잡초(雜草)를 조사하여 얻어진 결과는 다음과 같다. 1. 묘지에서 조사된 잡초종(雜草種)은 53과 196종으로 그 중 일년생(一年生) 31종, 울년생(越年生) 38종, 다년생(多年生) 127종이었다. 2. 묘지에서 조사된 잡초종(雜草種)을 과별(科別)로 보면 국화과 34종, 벼과 27종, 콩과 17종, 장미과 10종, 백합 미나리아재비과 8종, 석죽 배추과 7종, 꿀풀 마디풀과 6종, 돌나물 사초과 4종 그리고 나머지 41과에서 1~3종의 잡초(雜草)가 조사되었다. 3. 경북지방(慶北地方)의 묘지에서 우점(優占)하는 초종은 띠, 쑥, 제비꽃, 개망초, 망초, 산딸기, 꿀풀 등이었다.

  • PDF

Cytokines Regulate the Expression of the Thymus and Activation-Regulated Chemokine (TARC; CCL17) in Human Skin Fibroblast Cells

  • Lee, Ji-Sook;Kim, In-Sik;Kim, Dong-Hee;Yun, Chi-Young
    • Animal cells and systems
    • /
    • 제10권1호
    • /
    • pp.15-20
    • /
    • 2006
  • Allergic inflammation is thought to be a Th2 cell-dominant immune response during which tissue-resident fibroblasts produce chemokines which contribute to the recruitment of migratory leukocytes to sites of tissue injury. Thymus and activation-regulated chemokine (TARC; CCL17) is a potent member of the CC chemokine family and a selective chemoattractant for Th2 cells. In order to study the regulatory profiles of TARC production by $TNF-{\alpha}$, $IFN-{\gamma}$, and Il-4 in human normal skin fibroblast, CCD-986sk cell line was used. The expression of TARC protein was measured using ELISA, and mRNA level was detected by RT-PCR. The combination of $TNF-{\alpha}$ and IL-4 induced a time-and dose-dependent synergistic increase in the expression of TARC at both protein and mRNA levels in the cultured human skin fibroblasts. Exposure of the cells to single cytokine had no effect on TARC expression. The high concentration (100 ng/ml) and long incubation time (72 h) of $IFN-{\gamma}$ further enhanced the TARC production induced by $TNF-{\alpha}$/lL-4 in the skin fibroblast. This synergistic effect of Th1 and Th2 type cytokines on TARC production by skin fibroblasts may contribute to the inflammatory cell infiltration and tissue damage with allergic inflammation.