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Journal of genetic syndromes & gene therapy最新文献

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Roifman-Chitayat Syndrome
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_92-1
Amarilla B. Mandola, D. Chitayat, C. Roifman
{"title":"Roifman-Chitayat Syndrome","authors":"Amarilla B. Mandola, D. Chitayat, C. Roifman","doi":"10.1007/978-3-319-66816-1_92-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_92-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73429386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COPA Syndrome 国王综合症
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_8-1
Parnian Shobeiri, S. Hanaei
{"title":"COPA Syndrome","authors":"Parnian Shobeiri, S. Hanaei","doi":"10.1007/978-3-319-66816-1_8-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_8-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"66 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79792012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immunodeficiency-Vasculitis-Myoclonus Syndrome (IVMS) 免疫缺陷-血管炎-肌阵挛综合征
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_61-1
Parnian Shobeiri, S. Hanaei
{"title":"Immunodeficiency-Vasculitis-Myoclonus Syndrome (IVMS)","authors":"Parnian Shobeiri, S. Hanaei","doi":"10.1007/978-3-319-66816-1_61-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_61-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"124 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72628201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Monocytopenia and Mycobacterial Infection Syndrome (MONOMAC) 单核细胞减少和分枝杆菌感染综合征(MONOMAC)
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_75-1
M. González-Lara, J. Cuellar-Rodríguez
{"title":"Monocytopenia and Mycobacterial Infection Syndrome (MONOMAC)","authors":"M. González-Lara, J. Cuellar-Rodríguez","doi":"10.1007/978-3-319-66816-1_75-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_75-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75353117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CANDLE Syndrome 蜡烛综合症
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_23-1
A. Torrelo
{"title":"CANDLE Syndrome","authors":"A. Torrelo","doi":"10.1007/978-3-319-66816-1_23-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_23-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75638067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Critical Survey of Mathematical Approaches towards Genome and Protein Sequence Comparison 基因组和蛋白质序列比较的数学方法综述
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.4172/2157-7412.20.11.329
Bhatt Dk
{"title":"A Critical Survey of Mathematical Approaches towards Genome and Protein Sequence Comparison","authors":"Bhatt Dk","doi":"10.4172/2157-7412.20.11.329","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.329","url":null,"abstract":"The present review highlights the very purpose of comparing genome and protein sequences and examines critically the different types of methodologies involved in the process leading to the final results of comparison.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"279 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80109498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Applications of Gene Therapy in Human Health 基因治疗在人类健康中的应用
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.4172/2157-7412.20.11.328
Yujing Li
{"title":"Applications of Gene Therapy in Human Health","authors":"Yujing Li","doi":"10.4172/2157-7412.20.11.328","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.328","url":null,"abstract":"Any abnormality in the genome especially a condition present from birth is a genetic syndrome which is also called as congenital. Mostly the genetic syndromes are rare they occur for one in thousands or millions persons. These genetic disorders can be treated by technique called gene therapy.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"42 1","pages":"0-1"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72681480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CTLA-4 Haploinsufficiency with Autoimmune Infiltration (CHAI) CTLA-4单倍体功能不全伴自身免疫浸润(CHAI)
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.1007/978-3-319-66816-1_11-1
C. Platt
{"title":"CTLA-4 Haploinsufficiency with Autoimmune Infiltration (CHAI)","authors":"C. Platt","doi":"10.1007/978-3-319-66816-1_11-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_11-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"111 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79208977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Excyclotropia Leading to Meridoneal Amblyopia in Apert’s Syndrome 斜视导致阿伯特综合征的子午线弱视
Journal of genetic syndromes & gene therapy Pub Date : 2020-01-01 DOI: 10.4172/2157-7412.19.11.326
S. Chowdhury, M. Srivastava, N. Chowdhury
{"title":"Excyclotropia Leading to Meridoneal Amblyopia in Apert’s Syndrome","authors":"S. Chowdhury, M. Srivastava, N. Chowdhury","doi":"10.4172/2157-7412.19.11.326","DOIUrl":"https://doi.org/10.4172/2157-7412.19.11.326","url":null,"abstract":"Apert’s syndrome is a very rare disease. Besides scarce features of acrocraniosynostosis, its ocular features are also predominant. Three cases, which are reported here, had typical features of the syndrome. Additionally one case of eighteen year old girl presented with meridoneal amblyopia due to excyclotropia. To our knowledge this is the first case report where fundus picture confirms presence of excyclotropia in Apert’s syndrome. Second case had corneal erosion in proptosed eyes and third case was of a 12 years girl with severe proptosis along with craniosynostosis and syndactyly of all four limbs. The purpose of this report is to show the frequency of this syndrome in Jharkhand and highlighting the orbital and facial deformities and severe syndactyly of patients.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"34 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75148603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Readthrough Intervention Increases ER Stress in Wolfram Syndrome 通读干预增加Wolfram综合征的内质网应激
Journal of genetic syndromes & gene therapy Pub Date : 2019-01-01 DOI: 10.4172/2157-7412.1000324
A. Zmysłowska, M. Borowiec, E. Polakowska, Aleks, R. Lesiak, W. Młynarski
{"title":"Readthrough Intervention Increases ER Stress in Wolfram Syndrome","authors":"A. Zmysłowska, M. Borowiec, E. Polakowska, Aleks, R. Lesiak, W. Młynarski","doi":"10.4172/2157-7412.1000324","DOIUrl":"https://doi.org/10.4172/2157-7412.1000324","url":null,"abstract":"Aim: Wolfram syndrome (WFS) is an example of inherited endocrine and neurodegenerative disease due to increased ER stress with no causal treatment. WFS is an autosomal recessive syndrome caused by biallelic mutations in WFS1 gene. Some of these mutations result in premature termination codons (PTCs). Some prospects for the causal treatment of WFS patients could give a PTCs readthrough intervention. The use of ataluren (formerly PTC124) can result in bypassing the PTCs and lead to a continuation of translation. The aim of the study was to evaluate the repairing potential of ataluren in a cell model of WFS caused by PTCs. Materials and methods: Diagnosis of WFS was confirmed by Sanger sequencing of the WFS1 gene. ER stress induction (Tunicamycin; Sigma-Aldrich, Germany) with subsequently using PTC124 (Ataluren, Selleckchem, USA) were performed on fibroblasts obtained from skin biopsies of WFS patients and healthy individuals. The evaluation of ER stress induction was conducted by analysis of mRNA expression of recognized markers of the ER stress (7900HT Real Time PCR; Applied Biosystems, USA). Results: Expression of specific markers of ER stress in patients with WFS was increased after using tunicamycin, with the highest value after 8 hours of the ER stress induction. The highest increase in mRNA expression after application of PTC124 in combination with DMSO in relation to DMSO itself was observed for GRP78 (p=0.0013). Fold change was 3.41 ± 0.73. Conclusion: It seems that PTC124 by the ER stress increasing cannot be used as a potential causal treatment for the WFS patients","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"44 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85124750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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