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常染色体显性遗传伴外显不全帕金森综合征 被引量:1
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作者 徐长水 徐军 +2 位作者 马建军 鲍玉洲 赵国强 《实用诊断与治疗杂志》 2005年第6期391-393,共3页
目的确定常染色体显性遗传伴外显不全帕金森综合征的临床特点。方法详细询问家系的病史,检查症状、体征及疗效等临床特点并与青年型常染色体隐性遗传帕金森综合征做对照。结果常染色体显性遗传伴外显不全帕金森综合征与常染色隐性遗传... 目的确定常染色体显性遗传伴外显不全帕金森综合征的临床特点。方法详细询问家系的病史,检查症状、体征及疗效等临床特点并与青年型常染色体隐性遗传帕金森综合征做对照。结果常染色体显性遗传伴外显不全帕金森综合征与常染色隐性遗传帕金森综合征的临床特点有明显差异。结论对青年型家族性帕金森综合征应早期鉴别诊断,指导该病的临床及基因治疗。 展开更多
关键词 帕金森病 临床表现 常染色体显性遗传伴外显不 常染色体隐性遗传
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中国水稻无融合生殖的研究进展 被引量:4
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作者 陈秋芳 黄群策 《中国农学通报》 CSCD 2005年第8期120-124,共5页
目前,在二倍体水平上选育水稻无融和生殖种质的难度较大,而在多倍体水平筛选水稻无融和生殖新种质已成为水稻无融和生殖研究新的生长点。研究者已明确提出水稻无融合生殖育种的主要目标,即全显性和简单性、专一性和自发性、兼有性和致... 目前,在二倍体水平上选育水稻无融和生殖种质的难度较大,而在多倍体水平筛选水稻无融和生殖新种质已成为水稻无融和生殖研究新的生长点。研究者已明确提出水稻无融合生殖育种的主要目标,即全显性和简单性、专一性和自发性、兼有性和致死性、多倍性和杂和性。 展开更多
关键词 中国 水稻 无融合生殖 生殖种质 全显性 简单性 专一性 自发性 兼有性 致死性 多倍性 杂和性 杂种优势
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Quantum Secret Sharing Based on Chinese Remainder Theorem 被引量:3
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作者 施荣华 粟倩 +1 位作者 郭迎 李门浩 《Communications in Theoretical Physics》 SCIE CAS CSCD 2011年第4期573-578,共6页
A novel quantum secret sharing (QSS) scheme is proposed on the basis of Chinese Remainder Theorem (CRT). In the scheme, the classical messages are mapped to secret sequences according to CRT equations, and distrib... A novel quantum secret sharing (QSS) scheme is proposed on the basis of Chinese Remainder Theorem (CRT). In the scheme, the classical messages are mapped to secret sequences according to CRT equations, and distributed to different receivers by different dimensional superdense-coding respectively. CRT's secret sharing function, together with high-dimensional superdense-eoding, provide convenience, security, and large capability quantum channel for secret distribution and recovering. Analysis shows the security of the scheme. 展开更多
关键词 quantum secret sharing Chinese Remainder Theorem quantum superdense-coding
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Dermatofibrosarcoma protuberans: from translocation to targeted therapy 被引量:6
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作者 Jonathan Noujaim Khin Thway +1 位作者 Cyril Fisher Robin L.Jones 《Cancer Biology & Medicine》 SCIE CAS CSCD 2015年第4期375-384,共10页
Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local ... Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local recurrence rate and a low propensity for metastasis. Wide surgical resection or Mohs micrographic surgery(MMS) are the preferred approaches for localized disease, while radiation therapy is warranted for inoperable disease or for cases with positive margins where re-excision is not possible. DFSP is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease were limited until the discovery of a unique translocation, t(17;22)(q22;q13)(COL1A1;PDGFB) found in a majority of cases. In recent years, imatinib, a PDGFβR, ABL and KIT inhibitor, has revolutionized systemic therapy in DFSP. In this review, we summarize the epidemiological, clinical, histological and genetic characteristics of DFSP and update the readers on its current management. 展开更多
关键词 Dermatofibrosarcoma protuberans(DFSP) imatinib Mohs micrographic surgery(MMS) translocation targeted therapy
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A novel variant in TBX20 (p.DI76N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect 被引量:10
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作者 Ji-jia LIU Liang-liang FAN +2 位作者 Jin-lan CHEN Zhi-ping TAN Yi-feng YANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2014年第9期830-837,共8页
Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demon... Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 (TBX20) contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A (p.D176N), was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs (SIFT, Polyphen2, and MutationTaster). This mutation was also not presented in the current Single Nucleotide Polymorphism Database (dbSNP) or National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP). In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree. 展开更多
关键词 Congenital heart disease (CHD) Atrial septal defect (ASD) Whole-exome sequencing CHD-relatedgene filter TBX20
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COL4A3 mutations cause focal segmenta glomerulosclerosis 被引量:15
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作者 Jingyuan Xie Xiaoxi Wu +13 位作者 Hong Ren Weiming Wang Zhaohui Wang Xiaoxia Pan Xu Hao Jun Tong Jun Ma Zhibin Ye Guoyu Meng Yufei Zhu Krzysztof Kiryluk Xiangyin Kong Landian Hu Nan Chen 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2014年第6期498-505,共8页
Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing... Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Atport's syndrome (ARAS) patients, and 190 ethnically matched healthy controls. Patients with extrarenal manifestations, indicating systemic diseases or other known hereditary renal diseases, were excluded. Heterozygous COL4A3 mutations were identified in five (12.5%) FSGS families and one (2%) sporadic FSGS patient. All identified mutations disrupted highly conserved protein sequences and none of them was found in either public databases or the 190 healthy controls. Of the FSGS patients with heterozygous COL4A3 mutations, segmental thinning of the glomerular base membrane (GBM) was only detected in the patient with electronic microscopy examination results available. Five ARAS patients (55.6%) had homozygous or compound-heterozygous mutations in COL4.43 or COL4A4. Serious changes in the G BM, hearing loss, and ocular abnormalities were found in 100%, 80%, and 40% of the ARAS patients, respectively. Overall, a new sub- group of FSGS patients resulting from heterozygous C01.4A3 mutations was identified. The mutations are relatively frequent in famiUes diagnosed with inherited forms of FSGS. Thus, we suggest screening for C01.4A3 mutations in familial FSGS patients. 展开更多
关键词 FSGS MUTATION COL4A3 COL4A4
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A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility 被引量:3
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作者 Yuying Jiao Suixing Fan +23 位作者 Nazish Jabeen Huan Zhang Ranjha Khan Ghulam Murtaza Hanwei Jiang Asim Ali Yang Li Jianqiang Bao Beibei Zhang Jianze Xu Bo Xu Hafiz Muhammad Jafar Hussain Qumar Zaman Ihsan Khan Ihtisham Bukhari Furhan Iqbal Ayesha Yousaf Sobia Dil Manan Khan Niaz Ahmad Hui Ma Xiaohua Jiang Yuanwei Zhang Qinghua Shi 《Science Bulletin》 SCIE EI CSCD 2020年第24期2120-2129,M0006,共11页
Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks(DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. Howeve... Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks(DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. However, few studies have focused on meiotic DSB formation in human reproduction.Here, we report four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility with normal menstrual cycles and normal ovary sizes with follicular activity. An autosomal recessive mutation in TOP6BL was found co-segregating with infertility in this family. Investigation of one male patient revealed failure in programmed meiotic DSB formation and meiotic arrest prior to pachytene stage of prophase I.Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. Pathogenicity of the mutation in the female patient was supported by observations in mice that meiotic programmed DSBs failed to form in mutant oocytes and oocyte maturation failure due to absence of meiotic recombination. Our study thus illustrates the phenotypical characteristics and the genotype-phenotype correlations of meiotic DSB formation failure in humans. 展开更多
关键词 Programmed meiotic DNA double-strand breaks TOP6BL mutation Meiotic DSB formation failure Human infertility Oocyte maturation failure Meiotic arrest
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