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Organogenesis Volume 10, 2014 - Issue 2

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Research Paper

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid³ ciliopathy mutant

Megan G Davey Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UKCorrespondence[email protected]

Lynn McTeir Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UK

Andrew M Barrie Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UK

Lucy J Freem Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UK

Louise A Stephen Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UK

Pages 177-185 | Received 04 Jan 2014, Accepted 08 Apr 2014, Published online: 17 Apr 2014

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https://doi.org/10.4161/org.28819
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Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang & Xiangyu Zhou. (2022) Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. Human Genomics 16:1.
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Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar & Alan J. Burns. (2021) TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience 14.
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Amy M Fraser & Megan G Davey. (2019) TALPID3 in Joubert syndrome and related ciliopathy disorders. Current Opinion in Genetics & Development 56, pages 41-48.
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Xiaoxiao Fan, Hongbin Guo, Binghua Dai, Lifeng He, Daizhan Zhou & Hui Lin. (2019) The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma. Cancer Medicine 8:1, pages 337-350.
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Hugo Fernandes-Silva, Patrícia Vaz-Cunha, Violina Baranauskaite Barbosa, Carla Silva-Gonçalves, Jorge Correia-Pinto & Rute Silva Moura. (2017) Retinoic acid regulates avian lung branching through a molecular network. Cellular and Molecular Life Sciences 74:24, pages 4599-4619.
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Michelle Wall, David Butler, Alicia El Haj, Josephine C. Bodle, Elizabeth G. Loboa & Albert J. Banes. (2017) Key developments that impacted the field of mechanobiology and mechanotransduction. Journal of Orthopaedic Research.
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Hugo Fernandes-Silva, Jorge Correia-Pinto & Rute Moura. (2017) Canonical Sonic Hedgehog Signaling in Early Lung Development. Journal of Developmental Biology 5:1, pages 3.
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Beatrice J. Edwards, Dennis W. Raisch, Smita S. Saraykar, Ming Sun, Josh A. Hammel, Hai T. Tran, Nathaniel Wehr, Rasha Arabyat & Dennis P. West. (2017) Hepatotoxicity with Vismodegib: An MD Anderson Cancer Center and Research on Adverse Drug Events and Reports Project. Drugs in R&D 17:1, pages 211-218.
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Rute S. Moura & Jorge Correia-Pinto. 2017. The Biology of the Avian Respiratory System. The Biology of the Avian Respiratory System 129 146 .

Rute Silva Moura, Carla Silva-Gonçalves, Patrícia Vaz-Cunha & Jorge Correia-Pinto. (2016) Expression analysis of Shh signaling members in early stages of chick lung development. Histochemistry and Cell Biology 146:4, pages 457-466.
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Elizabeth N. Schock, Ching-Fang Chang, Ingrid A. Youngworth, Megan G. Davey, Mary E. Delany & Samantha A. Brugmann. (2016) Utilizing the chicken as an animal model for human craniofacial ciliopathies. Developmental Biology 415:2, pages 326-337.
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May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, William A Gahl & Meral Gunay-Aygun. (2015) Mutations in human homologue of chicken talpid3 gene ( KIAA0586 ) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes . Journal of Medical Genetics 52:12, pages 830-839.
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Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey & Hanno J Bolz. (2015) TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife 4.
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Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach & Sophie Thomas. (2015) Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. The American Journal of Human Genetics 97:2, pages 311-318.
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Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim & Joseph G Gleeson. (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife 4.
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Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid³ ciliopathy mutant

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Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant

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Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid³ ciliopathy mutant