http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 주제어 : Neurofibromin 1 (검색결과 5 건)
- 무료
- 기관 내 무료
- 유료
-
Luo, Guangming,Kim, Junwon,Song, Kiwon TaylorFrancis 2014 Cell Cycle Vol.13 No.17
<P>The human tumor suppressor neurofibromin contains a cysteine and serine-rich domain/Ras-GTPase activating protein domain (CSRD/RasGAP) and a C-terminal domain (CTD). Domain studies of neurofibromin suggest it has other functions in addition to being a RasGAP, but the mechanisms underlying its tumor suppressor activity are not well understood. The budding yeast <I>Saccharomyces cerevisiae</I> is a good model system for studying neurofibromin function because it possesses Ira1 and Ira2, which are homologous to human neurofibromin in both sequence and function. We found that overexpression of CTD or a neurofibromin CTD-homologous domain (CHD) of Ira1/2 in budding yeast delayed degradation of the securin protein Pds1, whereas overexpression of CSRD/RasGAP did not affect Pds1 degradation. We also found that when CTD or CHD was overexpressed, the number of cells in metaphase was higher than in the control. These results demonstrate that CTD and CHD function in the metaphase to anaphase transition. In addition, Δ<I>ira1</I>Δ<I>ira2</I> cells bypassed mitotic arrest in response to spindle damage, indicating that Ira1 and Ira2 may be involved in the spindle assembly checkpoint (SAC). However, Δ<I>ira1</I>Δ<I>ira2</I>Δ<I>mad2</I> cells are more sensitive to spindle damage than Δ<I>mad2</I> or Δ<I>ira1</I>Δ<I>ira2</I> cells are, suggesting that Ira1/2 and Mad2 function in different pathways. Overexpression of CTD but not CSRD/RasGAP partially rescued the hypersensitivity of Δ<I>ira1</I>Δ<I>ira2</I>Δ<I>mad2</I> cells to microtubule-destabilizing drugs, indicating a role for CTD in the SAC pathway. Taken together, independently of RasGAP activity, the C-terminal domains of neurofibromin, Ira1, and Ira2 regulate the metaphase to anaphase transition in a Mad2-independent fashion.</P>
-
양은혜(Eun Hye Yang),김영미(Young Mi Kim),김경준(Kyung Joon Kim),차승헌(Seung Heon Cha),곽민정(Min Jung Kwak) 대한소아신경학회 2018 대한소아신경학회지 Vol.26 No.3
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
-
Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1
조용화,윤경식,김혜옥,송해룡 한국유전학회 2014 Genes & Genomics Vol.36 No.1
Neurofibromatosis type 1 (NF1), the autosomaldominant diseases in humans, is caused by defects in the NF1tumor-suppressor gene. To date, more than 700 independentmutations have been identified in the NF1 gene, the majorityof which are family specific. The aim of this study was toinvestigate the pathogenic mutations in NF1 gene in 15Korean NF1 families. We performed genetic analysis on 37patients from 15 unrelated families by using RT-PCR andmRNA sequencing with 12 primer set including wholecoding region of the NF1 gene. Here, we identified thefamilial and sporadic mutations in 34 of 37 patients (91.9 %)and found the familial mutations in 11 of 15 families (73.3 %).Wedetected 29 mutations of NF1 gene, which mayencode the truncated form of neurofibromin. Four mutationswere found in the cAMP-dependent protein kinase recognitionsites (G1610A, c.2179delCAG) and the GTPase activatingprotein related domain (c.3169insT, c.2863delC). Inthis series of familial studies, we report a wide spectrum ofNF1 mutations in Korean patients. We conclude that mostmutations caused abnormal transcripts and premature terminationof the mutant alleles. Then we suggest that thesemay provide further insights into the pathogenesis of NF1.
-
Cheng, Hongwei,Shan, Ming,Feng, Chunguo,Wang, Xiaojie The Korean Neurosurgical Society 2014 Journal of Korean neurosurgical society Vol.55 No.1
Patients with neurofibromatosis 1 (NF1) are predisposed to develop central nervous system tumors, due to the loss of neurofibromin, an inactivator of proto-oncogene Ras. However, to our knowledge, only three cases of ependymomas with NF1 have been reported in the literature. The authors present a case of NF1 patient with a spinal cord ependymoma. She was referred for about half a year history of increasing numbness that progressed from her fingers to her entire body above the bellybutton. Magnetic resonance imaging revealed a relative-demarcated, heterogeneously enhanced mass lesion accompanied by perifocal edema in C5-7 level, a left-sided T11 spinous process heterogeneously enhanced mass in soft tissue, intervertebral disk hernia in L2-5 level, and widespread punctum enhancing lesion in her scalp and in T11-L5 level. The patient underwent C5-7 laminectomies and total excision of the tumor under operative microscope, and intraoperative ultrasonography and physiological monitoring were used during the surgery. Histopathologically, her tumor was found to be a ependymoma without malignant features (grade II in the World Health Organization classification). Therefore, no adjuvant therapy was applied. Following the operation, the patient showed an uneventful clinical recovery with no evidence of tumor recurrence after one year of follow-up.
-
Lee, Eun-Ju,Kim, Kwang-Joong,Kim, Han-Na,Bok, Jeong,Jung, Sung-Chul,Kim, Eung-Kweon,Lee, Jong-Young,Kim, Hyung-Lae Korean Society for Biochemistry and Molecular Bion 2011 Experimental and molecular medicine Vol.43 No.7
Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though the causative mutation is the same $TGFBI$ R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. We also observed the phenotype differences in our samples. For this reason, we focused our effort on the identification of unknown genetic factor related to phenotype variation. A total 551 individuals from 59 families were genotyped with SNP chip and used in genome-wide linkage analysis. From single-point linkage analyses, we confirmed the known 5q31 region for $TGFBI$ gene, and selected novel nine candidate loci for CGD2. In simulation analysis, the only 3q26.3 region including neuroligin 1 gene (NLGN1) was supported by empirical statistic significance. To investigate the effect of genetic heterogeneity in linkage analysis, we classified CGD2 families into two subgroups. Although we could not find a significant evidence for correlation between the 3q26.3 region and CGD2 phenotypes, this first genome-wide analysis with CGD2 families in Korea has a very important value for offering insights in genetics of CGD2. In addition, the co-segregating loci with CGD2 including 3q26.3 would be a good target for further study to understand the pathophysiology of CGD2.
스콜라연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
