Results 81 to 90 of about 9,217 (165)
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome [PDF]
, 2022 \ua9 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities.Wheway G, Wilson IJ, Green B, Rock SA, Sayer JA, Walker WT, Thompson J, Olinger E, Cordell HJ, Thomas NS, Devlin LA, Lucas JS, Neatu R, Coles J, Jackson CL, Barroso-Gil M, Powell L, Miles CG, Molinari E +18 morecore Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78
CellsBackground: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.İlker Levent Erdem, Zeynep Bengisu Kaya, Pergin Atilla, Nagehan Emiralioğlu, Cemil Can Eylem, Emirhan Nemutlu, Uğur Özçelik, Halime Nayır Büyükşahin, Ayşenur Daniş, Elif Karakoç +9 moredoaj +1 more sourceCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. [PDF]
, 2010 Contains fulltext :
88200.pdf (Publisher’s version ) (Open Access)Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring preferentially in the kidney, retina and ...David S. Williams, Edgar A. Otto, Peter Jackson, Yamashita, Yukiko, Dollfus, Helene, Lewis, Richard A., Estrada-Cuzcano, Alejandro, Helene Dollfus, Brito, D.A., Macdonald, J., Otto, Edgar A., Hartmut P H Neumann, Ghosh, Amiya K., Heather M McLaughlin, Bei, Xiaoshu, Hartmut P. H. Neumann, Ramaswami, G., Obermüller, Nicholas, Lewis, R.A., Stoetzel, C., Ghosh, A.K., Collin, R.W.J., Amiya K Ghosh, Murga-Zamalloa, Carlos A, Zhou, Weibin, Xinmin Zhang, Maher, E.R., Saunier, S., Airik, R., Hurd, Toby W., James D Cavalcoli, McLaughlin, H.M., Nurnberg, G., Antignac, C., Patil, S.B., Lopes, V., Sang, L., L. M. Coene, Toby W Hurd, Coene, K.L.M., Brito, Daniela A., Ramaswami, Gokul, Daniela A Brito, Koenekoop, R.K., Dias, Mónica Bettencourt, Richard A. Lewis, Kasanuki, Jennifer M., Mónica Bettencourt Dias, Conte, J., Jennifer M Kasanuki, Murga-Zamalloa, C.A., Roepman, R., Zhang, Xinmin, Weibin Zhou, Chi V Dang, Kasanuki, J.M., Collin, Rob W J, Hurd, Toby W, Cavalcoli, James D, Zhou, W., Roepman, Ronald, Carsten Bergmann, McLaughlin, Heather M., A Lopes, Lopes, Vanda, Jackson, P.K., Koenekoop, Robert K., Liu, Qin, Karlien L M Coene, Katsanis, N., Qin Liu, Obermuller, N., Lyons, R.H., Friedhelm Hildebrandt, Robert H. Lyons, Joseph Washburn, Rob W J Collin, Otto, Edgar A, Guay-Woodford, L.M., Neumann, Hartmut P H, Eric Pierce, Hildebrandt, Friedhelm, Gudrun Nürnberg, K. Koenekoop, McLaughlin, Heather M, Bergmann, C., Conte, Jinny, Yamashita, Y., Chaki, M., Corinne Antignac, Saunier, Sophie, Liu, Q., Ro Estrada-cuzcano, Robert H Lyons, Neumann, Hartmut P. H., Letteboer, Stef J. F., Jackson, Peter K., Heather M. Mclaughlin, Stef J. F. Letteboer, Pierce, Eric A., Giles, Rachel H, van Reeuwijk, Jeroen, Richard A Lewis, Levy, S., Lopez, Irma, Vanda Lopes, Katsanis, Nicholas, Eamonn R Maher, Lisa M Guay-Woodford, Hildebrandt, F., Sang, Liyun, Levy, Shawn, Jinny Conte, Ronald Roepman, Eric A Pierce, Bei, X., Coene, Karlien L M, Guay-Woodford, Lisa M., Maher, Eamonn, Hu, J., Shawn Levy, Zhang, X., Murga-Zamalloa, Carlos A., Suresh B Patil, Nürnberg, Gudrun, Sophie Saunier, Moumita Chaki, Cavalcoli, James D., Robert K Koenekoop, Carlos A. Murga-zamalloa, Jeroen Van Reeuwijk, Williams, David S., Toby W. Hurd, James Macdonald, Washburn, J., Dang, Chi V, Dollfus, H., Stoetzel, Corinne, Rachel H. Giles, Peter K Jackson, Lyons, Robert H, Lyons, Robert H., Khanna, Hemant, Peter Nürnberg, Neumann, H.P., Chaki, Moumita, Rob W. J. Collin, Eamonn R, Cavalcoli, J.D., Carlos A Murga-Zamalloa, Jackson, Peter K, Macdonald, James, Dias, M.B., Washburn, Joseph, Nurnberg, P., Held, Susanne, Williams, David S, Otto, E.A., Estrada-Cuzcano, A., Held, S., Pierce, E.A., Edgar A Otto, Stef J F Letteboer, Williams, D.S., Xiaoshu Bei, Dang, Chi V., Nicholas Obermüller, Reeuwijk, J. van, Nicholas Katsanis, Letteboer, S.J.F., Chi V. Dang, Suresh B. Patil, Airik, Rannar, Kasanuki, Jennifer M, Jennifer M. Kasanuki, Maher, Eamonn R., Susanne Held, Koenekoop, Robert K, Bergmann, Carsten, Lisa Guay-woodford, Collin, Rob W. J., David S Williams, Giles, Rachel H., Patil, Suresh B, Coene, Karlien L. M., Rachel H Giles, Hurd, T.W., Khanna, H., Lopez, I., Patil, Suresh B., Gokul Ramaswami, Lewis, Richard A, Rannar Airik, Corinne Stoetzel, Hemant Khanna, Irma Lopez, Amiya K. Ghosh, Hu, Jinghua, Guay-Woodford, Lisa M, Nürnberg, Peter, Daniela A. Brito, Giles, R.H., Dang, C.V., Ghosh, Amiya K, Jinghua Hu, Pierce, Eric A, Yukiko Yamashita, Liyun Sang, Antignac, Corinne, Alejandro Estrada-Cuzcano, Brito, Daniela A, Letteboer, Stef J F, Maher, Eamonn R +212 morecore +1 more sourceIs Alzheimer’s Disease at Least Partly a Ciliopathy? [PDF]
, 2011 The uninterrupted generation throughout life of the dentate gyrus [DGY] granule cells [GCs] (one site of adult neurogenesis), which initiate the encoding of novel memories, is driven by signals from the DGy GC precursors tiny, non-motile primary cilia ...CHIARINI, Anna Maria, DAL PRÀ, Ilaria Pierpaola, Whitfield J. F., ARMATO, Ubaldo, Chakravarthy B. +4 morecore +1 more sourceCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
, 2012 Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including transducing sensory signals. Defects in cilia biogenesis and transport cause pleiotropic human ciliopathies.Rachel, R.A., Murga-Zamalloa, C., Liu, P., Marek, J., Paul Liu, Swaroop, A., Khanna, H., May-Simera, H.L., Philip L. Beales, Rivka A. Rachel, Lopez, I., Veleri, S., Beales, P.L., Tiansen Li, Samuel G. Jacobson, Norimoto Gotoh, McIntyre, J.C., Raman Sood, Martens, J.R., Hemant Khanna, Helen L. May-Simera, Irma Lopez, Koenekoop, R.K., Zhang, J., Friedman, T.B., Kelley, M.W., Anneke I. den Hollander, Alice N. Hackett, Byung Yoon Choi, Li, T., Thomas B. Friedman, Matthew Brooks, Jacobson, S.G., Matthew W. Kelley, Shobi Veleri, Jonah Marek, Gotoh, N., Jeffrey R. Martens, Brooks, M., Robert K. Koenekoop, Sood, R., Anand Swaroop, Choi, B.Y., Carlos Murga-Zamalloa, Hackett, A.N., Hollander, A.I. den, Jeremy C. McIntyre +46 morecore +1 more sourcePhenotypic similarity for rare disease: ciliopathy diagnoses and subtyping
, 2019 International audienceRare diseases are often hard and long to be diagnosed precisely, and most of them lack approved treatment. For some complex rare diseases, precision medicine approach is further required to stratify patients into homogeneous ...Lyonnet, Stanislas, Bonald, Thomas, Vincent, Marc, Saunier, Sophie, Benoit, Vincent, Garcia, Hugo, Garcelon, Nicolas, Douillet, Maxime, Martin, Yoann, Burgun, Anita, Chen, Xiaoyi, Lelarge, Marc, Faour, Hassan, Neuraz, Antoine, Billot, Katy +14 morecore +1 more sourceOphthalmıc fındıngs ın Joubert syndrome 25: A case report
Indian Journal of Ophthalmology. Case ReportsJoubert syndrome (JBTS; OMIM PS213300) is a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: a characteristic brain imaging finding known as the “molar tooth sign,” hypotonia, and ...Tulin Aras Ogreden, Mehmet Büyüktiyakidoaj +1 more sourceThe Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase.
, 2017 Cilia are thin cell projections with essential roles in cell motility, fluid movement, sensing, and signaling. They are templated from centrioles that dock against the plasma membrane and subsequently extend their peripheral microtubule array.van Breugel, M, Yu, M, McLaughlin, SH, Barnabas, DD, Al-Jassar, C, Andreeva, A, Johnson, CM +6 morecore +1 more source
