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A reference to assess cilium phenotype in ciliopathy patients 评估纤毛病患者纤毛表型的参考文献
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P60
M. Oud, H. Arts, R. Roepman
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引用次数: 0
Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD) 原发性纤毛运动障碍(PCD)患儿CCDC103突变的表型变异
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P61
E. Robson, E. Moya, T. Burgoyne, P. Chetcuti, M. Dixon, R. Hirst, C. Hogg, H. Mitchison, C. O’Callaghan, A. Onoufriadis, M. Patel, A. Rutman, E. Sheridan, A. Shoemark
{"title":"Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD)","authors":"E. Robson, E. Moya, T. Burgoyne, P. Chetcuti, M. Dixon, R. Hirst, C. Hogg, H. Mitchison, C. O’Callaghan, A. Onoufriadis, M. Patel, A. Rutman, E. Sheridan, A. Shoemark","doi":"10.1186/2046-2530-4-S1-P61","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P61","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P61 - P61"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P61","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65819467","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: 1
The role of Rabconnectin3a in cilia length regulation Rabconnectin3a在纤毛长度调控中的作用
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P70
B. Tavares, P. Pintado, S. Lopes
{"title":"The role of Rabconnectin3a in cilia length regulation","authors":"B. Tavares, P. Pintado, S. Lopes","doi":"10.1186/2046-2530-4-S1-P70","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P70","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"79 1","pages":"P70 - P70"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P70","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65819881","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
Biochemical characterization of transmembrane proteins (TMEMs) in the ciliary transition zone 纤毛过渡区跨膜蛋白(TMEMs)的生化表征
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P75
E. Shoaib, Z. Abdelhamed, K. Szymanska, S. Bell, E. Morrison, C. Johnson
{"title":"Biochemical characterization of transmembrane proteins (TMEMs) in the ciliary transition zone","authors":"E. Shoaib, Z. Abdelhamed, K. Szymanska, S. Bell, E. Morrison, C. Johnson","doi":"10.1186/2046-2530-4-S1-P75","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P75","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"29 1","pages":"P75 - P75"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P75","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65819974","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: 1
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing 下一代测序时代Joubert综合征的基因型-表型相关性
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P8
R. Bachmann-Gagescu, J. Dempsey, I. Phelps, C. Isabella, D. O’Day, B. O’Roak, J. Shendure, I. Glass, D. Doherty
{"title":"Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing","authors":"R. Bachmann-Gagescu, J. Dempsey, I. Phelps, C. Isabella, D. O’Day, B. O’Roak, J. Shendure, I. Glass, D. Doherty","doi":"10.1186/2046-2530-4-S1-P8","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P8","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P8 - P8"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65820476","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: 1
From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape 从蛋白质组学数据到网络:统计和方法揭示纤毛蛋白相互作用景观
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P90
Q. Lu, K. Koutroumpas, K. Boldt, J. V. Reeuwijk, N. Katsanis, F. Képès, R. Roepman, M. Ueffing, RB Russell
{"title":"From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape","authors":"Q. Lu, K. Koutroumpas, K. Boldt, J. V. Reeuwijk, N. Katsanis, F. Képès, R. Roepman, M. Ueffing, RB Russell","doi":"10.1186/2046-2530-4-S1-P90","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P90","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P90 - P90"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P90","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65821064","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: 1
Rab23 has a novel role in the trafficking of Kif17 to the primary cilia Rab23在Kif17向初级纤毛的运输中具有新的作用
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P18
Y. Lim, B. Tang
{"title":"Rab23 has a novel role in the trafficking of Kif17 to the primary cilia","authors":"Y. Lim, B. Tang","doi":"10.1186/2046-2530-4-S1-P18","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P18","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P18 - P18"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P18","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65816714","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
OFD1 and VFL3/CCDC61 in basal body positioning and docking in Paramecium 草履虫中OFD1和VFL3/CCDC61的基础定位与对接
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P29
H. Bengueddach, M. Lemullois, J. Cohen, A. Tassin, A. Aubusson-Fleury, F. Koll
{"title":"OFD1 and VFL3/CCDC61 in basal body positioning and docking in Paramecium","authors":"H. Bengueddach, M. Lemullois, J. Cohen, A. Tassin, A. Aubusson-Fleury, F. Koll","doi":"10.1186/2046-2530-4-S1-P29","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P29","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"38 1","pages":"P29 - P29"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P29","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65817585","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
Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking 酵母作为一种简单的真核生物模型来研究与膜运输有关的人类疾病
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P31
J. D. Craene, S. Bär, J. Laporte, V. Marion, H. Dollfus, S. Friant
{"title":"Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking","authors":"J. D. Craene, S. Bär, J. Laporte, V. Marion, H. Dollfus, S. Friant","doi":"10.1186/2046-2530-4-S1-P31","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P31","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P31 - P31"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P31","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65818025","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
Recruitment of FOR20 and OFD1 onto pericentriolar satellites and centrosomes depends on the formation of a ternary complex with KIAA0753 FOR20和OFD1在中心周围卫星体和中心体上的募集依赖于与KIAA0753形成三元配合物
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2015-07-13 DOI: 10.1186/2046-2530-4-S1-P69
V. Chevrier, F. Lembo, S. Audebert, J. Borg, D. Birnbaum, O. Rosnet
{"title":"Recruitment of FOR20 and OFD1 onto pericentriolar satellites and centrosomes depends on the formation of a ternary complex with KIAA0753","authors":"V. Chevrier, F. Lembo, S. Audebert, J. Borg, D. Birnbaum, O. Rosnet","doi":"10.1186/2046-2530-4-S1-P69","DOIUrl":"https://doi.org/10.1186/2046-2530-4-S1-P69","url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P69 - P69"},"PeriodicalIF":0.0,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P69","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65819383","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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