PMC Links for Gene (Select 64446) - PMC

Select item 53098031.

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 35424582.

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 32221513.

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 41636474.

Interaction of SQSTM1 with the motor protein dynein – SQSTM1 is required for normal dynein function and trafficking

Luis Calderilla-Barbosa, M. Lamar Seibenhener, Yifeng Du, Maria-Theresa Diaz-Meco, Jorge Moscat, Jin Yan, Marie W. Wooten, Michael C. Wooten

J Cell Sci. 2014 Sep 15; 127(18): 4052–4063. doi: 10.1242/jcs.152363

PMCID:: PMC4163647

Abstract Article

Select item 26680285.

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 41689996.

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 37388287.

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 33190158.

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 28964649.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 553161110.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503011.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 13924112.

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

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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