PMC Links for Gene (Select 93233) - PMC

Links from Gene

Items: 19

Select item 93141051.

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

Renate Kos, Joël Israëls, Christine D. L. van Gogh, Josje Altenburg, Sandra Diepenhorst, Tamara Paff, Elles M. J. Boon, Dimitra Micha, Gerard Pals, Anne H. Neerincx, Anke H. Maitland‐van der Zee, Eric G. Haarman, Amsterdam Mucociliary Clearance Disease (AMCD) Research Group

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 89–101. Published online 2022 Mar 27. doi: 10.1002/ajmg.c.31968

PMCID:: PMC9314105

Abstract Article PDF–2.2M

Select item 88359432.

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

Lawrence E. Ostrowski, Weining Yin, Amanda J. Smith, Patrick R. Sears, Ximena M. Bustamante-Marin, Hong Dang, Friedhelm Hildebrandt, Leigh Anne Daniels, Nicole A. Capps, Kelli M. Sullivan, Margaret W. Leigh, Maimoona A. Zariwala, Michael R. Knowles

Int J Mol Sci. 2022 Feb; 23(3): 1753. Published online 2022 Feb 3. doi: 10.3390/ijms23031753

PMCID:: PMC8835943

Abstract Article PDF–13M

Select item 62882053.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heymut Omran, Miriam Schmidts

Am J Hum Genet. 2018 Dec 6; 103(6): 995–1008. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.020

PMCID:: PMC6288205

Abstract Article PDF–2.9M

Select item 35424554.

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M.A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter J. Scambler, Eddie M.K. Chung, UK10K, Gerard Pals, Hannah M. Mitchison

Am J Hum Genet. 2013 Jan 10; 92(1): 88–98. doi: 10.1016/j.ajhg.2012.11.002

PMCID:: PMC3542455

Abstract Article PDF–1.1M

Select item 61286535.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran

PLoS Genet. 2018 Aug; 14(8): e1007602. Published online 2018 Aug 27. doi: 10.1371/journal.pgen.1007602

PMCID:: PMC6128653

Abstract Article PDF–32M

Select item 49740896.

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Julia Wallmeier, Hidetaka Shiratori, Gerard W. Dougherty, Christine Edelbusch, Rim Hjeij, Niki T. Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, John B. Wallingford, Hiroshi Hamada, Heymut Omran

Am J Hum Genet. 2016 Aug 4; 99(2): 460–469. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.06.014

PMCID:: PMC4974089

Abstract Article PDF–2.6M

Select item 87540027.

Consensus nomenclature for dyneins and associated assembly factors

Bryony Braschi, Heymut Omran, George B. Witman, Gregory J. Pazour, K. Kevin Pfister, Elspeth A. Bruford, Stephen M. King

J Cell Biol. 2022 Feb 7; 221(2): e202109014. Published online 2022 Jan 10. doi: 10.1083/jcb.202109014

PMCID:: PMC8754002

Abstract Article PDF–3.0M

Select item 35424588.

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 41571469.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai T. Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas F.C. Morante, George C. Gabriel, Kristi L. Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian M. Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, UK10K Consortium, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia W. Lo, Heymut Omran, Hannah M. Mitchison

Am J Hum Genet. 2014 Sep 4; 95(3): 257–274. doi: 10.1016/j.ajhg.2014.08.005

PMCID:: PMC4157146

Abstract Article PDF–3.2M

Select item 381740410.

A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities

Franco J Vizeacoumar, Roland Arnold, Frederick S Vizeacoumar, Megha Chandrashekhar, Alla Buzina, Jordan T F Young, Julian H M Kwan, Azin Sayad, Patricia Mero, Steffen Lawo, Hiromasa Tanaka, Kevin R Brown, Anastasia Baryshnikova, Anthony B Mak, Yaroslav Fedyshyn, Yadong Wang, Glauber C Brito, Dahlia Kasimer, Taras Makhnevych, Troy Ketela, Alessandro Datti, Mohan Babu, Andrew Emili, Laurence Pelletier, Jeff Wrana, Zev Wainberg, Philip M Kim, Robert Rottapel, Catherine A O’Brien, Brenda Andrews, Charles Boone, Jason Moffat

Mol Syst Biol. 2013; 9: 696. Published online 2013 Oct 8. doi: 10.1038/msb.2013.54

PMCID:: PMC3817404

Abstract Article PDF–13M

Select item 488219011.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 294516812.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583213.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 426658814.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 135612915.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 716998316.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 816503017.

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 13924118.

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 317805919.

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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