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Select item 30149021.

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Ewa Ziętkiewicz, Barbara Nitka, Katarzyna Voelkel, Urszula Skrzypczak, Zuzanna Bukowy, Ewa Rutkiewicz, Kinga Humińska, Hanna Przystałowska, Andrzej Pogorzelski, Michał Witt

Respir Res. 2010; 11(1): 174. Published online 2010 Dec 8. doi: 10.1186/1465-9921-11-174

PMCID:: PMC3014902

Abstract Article PDF–540K

Select item 12883612.

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin, Anne-Marie Bridoux, Valère Cacheux, Gilles Roger, Annick Clément, Michel Goossens, Serge Amselem, Bénédicte Duriez

Am J Hum Genet. 1999 Dec; 65(6): 1508–1519. Published online 1999 Nov 17. doi: 10.1086/302683

PMCID:: PMC1288361

Abstract Article PDF–1.1M

Select item 83962073.

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Nina Stevanovic, Anita Skakic, Predrag Minic, Aleksandar Sovtic, Maja Stojiljkovic, Sonja Pavlovic, Marina Andjelkovic

Int J Mol Sci. 2021 Aug; 22(16): 8821. Published online 2021 Aug 17. doi: 10.3390/ijms22168821

PMCID:: PMC8396207

Abstract Article PDF–1.7M

Select item 36653634.

Primary ciliary dyskinesia: improving the diagnostic approach

Margaret W. Leigh, Maimoona A. Zariwala, Michael R. Knowles

Curr Opin Pediatr. Author manuscript; available in PMC 2013 May 28.

Published in final edited form as: Curr Opin Pediatr. 2009 Jun; 21(3): 320–325. doi: 10.1097/MOP.0b013e328329cddb

PMCID:: PMC3665363

Abstract Article PDF–110K

Select item 12756215.

Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

Cécile Guichard, Marie-Cécile Harricane, Jean-Jacques Lafitte, Philippe Godard, Marc Zaegel, Vincent Tack, Guy Lalau, Patrice Bouvagnet

Am J Hum Genet. 2001 Apr; 68(4): 1030–1035. Published online 2001 Feb 23. doi: 10.1086/319511

PMCID:: PMC1275621

Abstract Article PDF–627K

Select item 26480546.

Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

Maimoona A. Zariwala, Margaret W. Leigh, Franck Ceppa, Marcus P. Kennedy, Peadar G. Noone, Johnny L. Carson, Milan J. Hazucha, Adriana Lori, Judit Horvath, Heike Olbrich, Niki T. Loges, Anne-Marie Bridoux, Gaëlle Pennarun, Bénédicte Duriez, Estelle Escudier, Hannah M. Mitchison, Rahul Chodhari, Eddie M. K. Chung, Lucy C. Morgan, Robbert U. de Iongh, Jonathan Rutland, Ugo Pradal, Heymut Omran, Serge Amselem, Michael R. Knowles

Am J Respir Crit Care Med. 2006 Oct 15; 174(8): 858–866. Published online 2006 Jul 20. doi: 10.1164/rccm.200603-370OC

PMCID:: PMC2648054

Abstract Article PDF–910K

Select item 36752627.

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanova

Am J Hum Genet. 2013 Jun 6; 92(6): 955–964. doi: 10.1016/j.ajhg.2013.04.013

PMCID:: PMC3675262

Abstract Article PDF–2.6M

Select item 33209348.

Microtubules Regulate Hypoxia-inducible Factor-1α Protein Trafficking and Activity: IMPLICATIONS FOR TAXANE THERAPY

Marisa Carbonaro, Daniel Escuin, Aurora O'Brate, Maria Thadani-Mulero, Paraskevi Giannakakou

J Biol Chem. 2012 Apr 6; 287(15): 11859–11869. Published online 2012 Feb 24. doi: 10.1074/jbc.M112.345587

PMCID:: PMC3320934

Abstract Article PDF–2.1M

Select item 32221519.

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 217347910.

Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function

Chin-Yin Tai, Denis L. Dujardin, Nicole E. Faulkner, Richard B. Vallee

J Cell Biol. 2002 Mar 18; 156(6): 959–968. doi: 10.1083/jcb.200109046

PMCID:: PMC2173479

Abstract Article PDF–537K

Select item 271847811.

Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus Kennedy, Michael R. Knowles, Heymut Omran

Am J Respir Crit Care Med. 2005 Jun 15; 171(12): 1343–1349. Published online 2005 Mar 4. doi: 10.1164/rccm.200411-1583OC

PMCID:: PMC2718478

Abstract Article PDF–578K

Select item 416364712.

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 266802813.

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 377072814.

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

Nader Nakhleh, Richard Francis, Rachel A. Giese, Xin Tian, You Li, Maimoona A. Zariwala, Hisato Yagi, Omar Khalifa, Safina Kureshi, Bishwanath Chatterjee, Steven L. Sabol, Matthew Swisher, Patricia S. Connelly, Mathew P. Daniels, Ashok Srinivasan, Karen Kuehl, Nadav Kravitz, Kimberlie Burns, Iman Sami, Heymut Omran, Michael Barmada, Kenneth Olivier, Kunal K. Chawla, Margaret Leigh, Richard Jonas, Michael Knowles, Linda Leatherbury, Cecilia W. Lo

Circulation. Author manuscript; available in PMC 2013 Sep 11.

Published in final edited form as: Circulation. 2012 May 8; 125(18): 2232–2242. Published online 2012 Apr 12. doi: 10.1161/CIRCULATIONAHA.111.079780

PMCID:: PMC3770728

Abstract Article PDF–1.0M

Select item 760648615.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran

Nat Commun. 2020; 11: 5520. Published online 2020 Nov 2. doi: 10.1038/s41467-020-19113-0

PMCID:: PMC7606486

Abstract Article PDF–6.3M

Select item 273408116.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 992246817.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 289646418.

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 135612919.

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 816503020.

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

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