Suchergebnisse

Bardet–Biedl syndrome: Is it only cilia dysfunction? von Rossina Novas, Magdalena Cárdenas-Rodríguez, Florencia Irigoı́n, José L. Badano

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Intraflagellar transport: from molecular characterisation to mechanism von Oliver E. Blacque

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Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton von Xue Yuan, Rosa Serra, Shuying Yang

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Clinical genetics and pathobiology of ciliary chondrodysplasias von Miriam Schmidts

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The Role of RPGR and Its Interacting Proteins in Ciliopathies von Sarita Rani Patnaik, Rakesh Kotapati Raghupathy, Xun Zhang, David Mansfield, Xinhua Shu

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Compartments within a compartment von Oliver E. Blacque, Anna A. W. M. Sanders

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Chapter 9 The Primary Cilium von Sunny Y. Wong, Jeremy F. Reiter

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IFT–Cargo Interactions and Protein Transport in Cilia von Karl F. Lechtreck

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Alström syndrome: current perspectives von Diana Valverde, María Álvarez‐Satta, Sheila Castro‐Sánchez

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Specialized Cilia in Mammalian Sensory Systems von Nathalie Falk, Marlene Lösl, Nadja Schröder, Andreas Gießl

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<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome von Razek Georges Coussa, Edgar A. Otto, Heon Yung Gee, P Arthurs, Haitao Ren, I. López, Vafa Keser, Qiushi Fu, Ricardo Faingold, Ayesha Khan, Jeremy Schwartzentruber, Jacek Majewski, Friedhelm Hildebrandt, Robert K. Koenekoop

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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome von Poppy Datta, Chantal Allamargot, Joseph S. Hudson, Emily K. Andersen, Sajag Bhattarai, Arlene V. Drack, Val C. Sheffield, Seongjin Seo

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Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia von Alok S. Shah, Sara L. Farmen, Thomas O. Moninger, Thomas R. Businga, Michael Andrews, Kevin Bugge, Charles Searby, Darryl Nishimura, Kim A. Brogden, Joel N. Kline, Val C. Sheffield, Michael J. Welsh

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Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome von Qihong Zhang, Da-Hai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield

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Bardet–Biedl syndrome associated with glaucoma von Marcelo Palis Ventura, Raul N. G. Vianna, Helena Parente Solari, J.P. Souza Filho, Miguel N. Burnier

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Cilia and Flagella Revealed von William J. Snell, Junmin Pan, Qian Wang

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Update on the Genetics of Bardet-Biedl Syndrome von O. M'hamdi, Inès Ouertani, Habiba Chaabouni-Bouhamed

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 von Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine Leh, Marit Midtbø, Emilie Filhol, Christine Bôle‐Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan‐Stephan Sanders, Irene Stolte‐Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Marc Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine Knoers, Ronald Roepman, Heleen H. Arts

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Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function von Perciliz L. Tan, Travis P. Barr, Peter N. Inglis, Norimasa Mitsuma, Susan M. Huang, Miguel A. García-González, Brian A. Bradley, Stephanie Coforio, Phillip J. Albrecht, Terry Watnick, Gregory G. Germino, Philip L. Beales, Michael J. Caterina, Michel R. Leroux, Frank L. Rice, Nicholas Katsanis

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Alstrom Syndrome: Genetics and Clinical Overview von Jan D. Marshall, Pietro Maffei, Gayle B. Collin, Jürgen Κ. Naggert

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