Results 71 to 80 of about 9,217 (165)
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery [PDF]
, 2016 Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function.University Washington, Choi, Yeon Ja, Yeung, Yvonne, Michinori Toriyama, Kim, Sukyoung, Pierquin, Ghislaine, Biver, Armand, Al-Lami, Hadeel Adel, Thauvin-Robinet, C, Christel Thauvin-Robinet, Liu, Karen J.; id_orcid, Drew, Kevin, Liu, Karen J, Wallingford, John B., Duffourd,Yannis, Marcus R Kelly, Anne Malfroot, Bruel, Ange Line, Edward M Marcotte, Chen, Jiang, John B Wallingford, Cohn, Daniel H, Kelly, Marcus R., Jacqueline M Tabler, Taylor, S. Paige, Park, Tae Joo, Tabler, Jacqueline M, Daniela A Braun, Thauvin Robinet, Christel, Yannis Duffourd, Tabler, Jacqueline M., Taypor, S Paige, Ivan Duran, Hadeel Adel Al-lami, Wallingford, John B, Kelley, Marcus R., Friedhelm Hildebrandt, Duffourd, Yannis, Deborah Krakow, Marcotte, Edward M., Laurence Faivre, Rivière, Jean-Baptiste, Yvonne Yeung, Kerstin Wagner, Brunella Franco, PIERQUIN, Geneviève, Wagner, Kerstin, Hildebrandt, Friedhelm, Choi,Yeon Ja, Riviere, Jean-Baptiste, Braun, Daniela A, Inusha Panigrahi, Al lami, Hadeel Adel, Armand Biver, Panigrahi, Inusha, Kelly, Marcus R, Thauvin-Robinet, Christel, S Paige Taylor, Toriyama, Michinori, Peter K Jackson, Bruel, Ange-Line, Tae Joo Park, Cohn, Daniel H., Liu, Karen J., Jean-Baptiste Rivière, Lee, Chanjae, Jiang Chen, Braun, Daniella, Karen J Liu, Braun, Daniela A., Kevin Drew, Sukyoung Kim, Yeon Ja Choi, Daniel H Cohn, Marcotte, Edward M, Ange-Line Bruel, Malfroot, Anne, Taylor, S Paige, Chanjae Lee, Jackson, Peter K, Ghislaine Pierquin, Faivre, Laurence, Jackson, Peter K., FRANCO, BRUNELLA, Duran, Ivan, Rivière, Jean Baptiste, Krakow, Deborah +86 morecore +1 more sourceShaping the sound of voice
eLife, 2017 The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.Ralph Marcuciodoaj +1 more sourceMutations in the lethal ciliopathy Meckel-Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton
, 2009 MKS3, encoding a novel trans-membrane receptor, meckelin with similarity to frizzled proteins, is mutated in Meckel–Gruber syndrome (MKS), an autosomal recessive lethal ciliopathy.Meckelin is a ciliary protein, but it also localises to the actin ...Johnson, Colin, Dawe, Helen, Szymanska, Katarzyna, Logan, Clare, Noegel, Angelika, Noegel, Angelika A, Gull, Keith, Adams, Matthew, Wheway, Gabrielle +8 morecore +1 more sourcePrimary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
Frontiers in Pediatrics, 2017 Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...Virginia Mirra, Virginia Mirra, Claudius Werner, Francesca Santamaria, Francesca Santamaria +4 moredoaj +1 more sourceThe ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
, 2011 Contains fulltext :
97420.pdf (Publisher’s version ) (Open Access)Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as 'ciliopathies'.Stef J.F. Letteboer, Cremers, F.P.M., Emine Bolat, Marius Ueffing, Theo A. Peters, Mans, D.A., Peters, T.A., Coene, K.L.M., Letteboer, S.J., Cremers, F.P., Reeuwijk, J. van, Ronald Roepman, Letteboer, S.J.F., C. Johannes Gloeckner, Boldt, K., van Reeuwijk, J., Susanne Roosing, Gloeckner, C.J., Bolat, E., Dorus A. Mans, Karsten Boldt, Coene, K.L., Roepman, R., Ueffing, M., Karlien L.M. Coene, Jeroen van Reeuwijk, Frans P.M. Cremers, Roosing, S. +27 morecore +1 more source in fetal skeletal ciliopathy
, 2020 Background Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal.Yuanguang Meng, Yuanmei Lei, Pei Sun, Longxia Wang, Hong Xu, Xiaoxiao Xie, Yanping Lu, Xinyue Zhang, Honghui Zhou, Yanqin You +9 morecore +1 more sourceIdentification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
Frontiers in Genetics, 2019 Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller +12 moredoaj +1 more source화합물 스크리닝을 이용한 Ciliopathy 치료전략 개발
, 2019 학위논문(박사) - 한국과학기술원 : 의과학대학원, 2019.2,[iv, 63 p. :]Ciliopathies are clinically overlapping genetic disorders involving structural and functional abnormalities of cilia.Kim, Yong Jooncore Illumination of understudied ciliary kinases
Frontiers in Molecular BiosciencesCilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.Raymond G. Flax, Peter Rosston, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, David H. Drewry, Panagiotis Prinos, Alison D. Axtman +10 moredoaj +1 more source
