PMC Links for GEO Profiles (Select 90925125) - PMC

Select item 99157231.

The RSPH4A Gene in Primary Ciliary Dyskinesia

Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera

Int J Mol Sci. 2023 Feb; 24(3): 1936. Published online 2023 Jan 18. doi: 10.3390/ijms24031936

PMCID:: PMC9915723

Abstract Article PDF–3.9M

Select item 83515632.

Structural insights into the cause of human RSPH4A primary ciliary dyskinesia

Yanhe Zhao, Justine Pinskey, Jianfeng Lin, Weining Yin, Patrick R. Sears, Leigh A. Daniels, Maimoona A. Zariwala, Michael R. Knowles, Lawrence E. Ostrowski, Daniela Nicastro

Mol Biol Cell. 2021 Jun 1; 32(12): 1202–1209. doi: 10.1091/mbc.E20-12-0806

PMCID:: PMC8351563

Abstract Article PDF–808K

Select item 81650303.

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 53064514.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Adrien Frommer, Rim Hjeij, Niki T. Loges, Christine Edelbusch, Charlotte Jahnke, Johanna Raidt, Claudius Werner, Julia Wallmeier, Jörg Große-Onnebrink, Heike Olbrich, Sandra Cindrić, Martine Jaspers, Mieke Boon, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, June K. Marthin, Kim G. Nielsen, Israel Amirav, Nael Elias, Eitan Kerem, David Shoseyov, Karsten Haeffner, Heymut Omran

Am J Respir Cell Mol Biol. 2015 Oct; 53(4): 563–573. doi: 10.1165/rcmb.2014-0483OC

PMCID:: PMC5306451

Abstract Article PDF–1.2M

Select item 39066775.

Founder mutation in RSPH4A identified in patients of Hispanic descent with Primary Ciliary Dyskinesia

M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan Hazucha, Sharon D. Dell, Maria Eriksson, Francis S. Collins, Michael R. Knowles, Maimoona A. Zariwala

Hum Mutat. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 1352–1356. Published online 2013 Aug 6. doi: 10.1002/humu.22371

PMCID:: PMC3906677

Abstract Article PDF–226K

Select item 36304646.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison

Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261

PMCID:: PMC3630464

Abstract Article PDF–1.3M

Select item 33089957.

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Ewa Ziętkiewicz, Zuzanna Bukowy-Bieryłło, Katarzyna Voelkel, Barbara Klimek, Hanna Dmeńska, Andrzej Pogorzelski, Anna Sulikowska-Rowińska, Ewa Rutkiewicz, Michał Witt

PLoS One. 2012; 7(3): e33667. Published online 2012 Mar 20. doi: 10.1371/journal.pone.0033667

PMCID:: PMC3308995

Abstract Article PDF–790K

Select item 31780598.

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

Select item 26680319.

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria H. Castleman, Leila Romio, Rahul Chodhari, Robert A. Hirst, Sandra C.P. de Castro, Keith A. Parker, Patricia Ybot-Gonzalez, Richard D. Emes, Stephen W. Wilson, Colin Wallis, Colin A. Johnson, Rene J. Herrera, Andrew Rutman, Mellisa Dixon, Amelia Shoemark, Andrew Bush, Claire Hogg, R. Mark Gardiner, Orit Reish, Nicholas D.E. Greene, Christopher O'Callaghan, Saul Purton, Eddie M.K. Chung, Hannah M. Mitchison

Am J Hum Genet. 2009 Feb 13; 84(2): 197–209. doi: 10.1016/j.ajhg.2009.01.011

PMCID:: PMC2668031

Abstract Article PDF–1.4M

Select item 13924110.

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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