PMC Links for Nucleotide (Select 1519315782) - PMC

Select item 41689991.

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Christine P. Diggle, Daniel J. Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R. Halachev, Philippe Gautier, Patricia L. Yeyati, David T. Bonthron, Ian M. Carr, Bruce Hayward, Alexander F. Markham, Jilly E. Hope, Alex von Kriegsheim, Hannah M. Mitchison, Ian J. Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P. Jarman, Pleasantine Mill

PLoS Genet. 2014 Sep; 10(9): e1004577. Published online 2014 Sep 18. doi: 10.1371/journal.pgen.1004577

PMCID:: PMC4168999

Abstract Article PDF–2.2M

Select item 37388282.

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 35424583.

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Michael R. Knowles, Margaret W. Leigh, Lawrence E. Ostrowski, Lu Huang, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Jonathan S. Berg, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Margaret Rosenfeld, Scott D. Sagel, Carlos E. Milla, Kenneth N. Olivier, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Maimoona A. Zariwala, the Genetic Disorders of Mucociliary Clearance Consortium

Am J Hum Genet. 2013 Jan 10; 92(1): 99–106. doi: 10.1016/j.ajhg.2012.11.003

PMCID:: PMC3542458

Abstract Article PDF–768K

Select item 33190154.

Whole genome association scan for genetic polymorphisms influencing information processing speed

Michelle Luciano, Narelle K. Hansell, Jari Lahti, Gail Davies, Sarah E. Medland, Katri Räikkönen, Albert Tenesa, Elisabeth Widen, Kevin A. McGhee, Aarno Palotie, David Liewald, David J. Porteous, John M. Starr, Grant W. Montgomery, Nicholas G. Martin, Johan G. Eriksson, Margaret J. Wright, Ian J. Deary

Biol Psychol. Author manuscript; available in PMC 2012 Apr 4.

Published in final edited form as: Biol Psychol. 2011 Mar; 86(3): 193–202. Published online 2010 Dec 3. doi: 10.1016/j.biopsycho.2010.11.008

PMCID:: PMC3319015

Abstract Article PDF–322K

Select item 32221515.

A Unified Taxonomy for Ciliary Dyneins

Erik F.Y. Hom, George B. Witman, Elizabeth H. Harris, Susan K. Dutcher, Ritsu Kamiya, David R. Mitchell, Gregory J. Pazour, Mary E. Porter, Winfield S. Sale, Maureen Wirschell, Toshiki Yagi, Stephen M. King

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2011 Oct; 68(10): 555–565. doi: 10.1002/cm.20533

PMCID:: PMC3222151

Abstract Article PDF–119K

Select item 26680286.

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Niki Tomas Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horvath, Manfred Fliegauf, Heiner Kuhl, Gyorgy Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O'Callaghan, Hannah Blau, Laszlo Tiszlavicz, Katarzyna Voelkel, Michal Witt, Ewa Ziętkiewicz, Juergen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran

Am J Hum Genet. 2008 Nov 17; 83(5): 547–558. doi: 10.1016/j.ajhg.2008.10.001

PMCID:: PMC2668028

Abstract Article PDF–861K

Select item 53098037.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

Nat Commun. 2017; 8: 14279. Published online 2017 Feb 8. doi: 10.1038/ncomms14279

PMCID:: PMC5309803

Abstract Article PDF–5.7M

Select item 25930248.

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

G J Pazour, N Agrin, B L Walker, G B Witman

J Med Genet. 2006 Jan; 43(1): 62–73. Published online 2005 Jun 3. doi: 10.1136/jmg.2005.033001

PMCID:: PMC2593024

Abstract Article PDF–509K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity