Full text in PMC (nucleotide) for Gene (Select 298524) - PMC

Select item 58258741.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

Zakia Abdelhamed, Shawn M. Vuong, Lauren Hill, Crystal Shula, Andrew Timms, David Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto

Development. 2018 Jan 1; 145(1): dev154500. doi: 10.1242/dev.154500

PMCID:: PMC5825874

Abstract Article

Select item 49793672.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Ruckert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Kavita Praveen, Mohammad A. Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, György Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran

Am J Respir Cell Mol Biol. 2016 Aug; 55(2): 213–224. doi: 10.1165/rcmb.2015-0353OC

PMCID:: PMC4979367

Abstract Article PDF–2.5M

Select item 37388283.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy C. Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran

Am J Hum Genet. 2013 Aug 8; 93(2): 357–367. doi: 10.1016/j.ajhg.2013.06.009

PMCID:: PMC3738828

Abstract Article PDF–2.9M

Select item 27958014.

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Niki Tomas Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, Hanswalter Zentgraf, Horst Seithe, Gudrun Nürnberg, Peter Nürnberg, Richard Reinhardt, Heymut Omran

Am J Hum Genet. 2009 Dec 11; 85(6): 883–889. doi: 10.1016/j.ajhg.2009.10.018

PMCID:: PMC2795801

Abstract Article PDF–894K

Select item 5402775.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 1392416.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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