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Select item 101333401.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D’Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca

Eur J Hum Genet. 2023 Apr; 31(4): 479–484. Published online 2023 Jan 4. doi: 10.1038/s41431-022-01276-7

PMCID:: PMC10133340

Article PDF–1.1M

Select item 77083022.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, Genomics England Research Consortium, Kamron N. Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham, Chris F. Inglehearn, Anthony Roberts, Elise Heon

Genet Med. 2020; 22(12): 2041–2051. Published online 2020 Aug 5. doi: 10.1038/s41436-020-0915-1

PMCID:: PMC7708302

Article PDF–1.5M

Select item 66588673.

Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2

Guo-zhong Yi, Guanglong Huang, Manlan Guo, Xi’an Zhang, Hai Wang, Shengze Deng, Yaomin Li, Wei Xiang, Ziyang Chen, Jun Pan, Zhiyong Li, Lei Yu, Bingxi Lei, Yawei Liu, Songtao Qi

Brain. 2019 Aug; 142(8): 2352–2366. Published online 2019 Jul 25. doi: 10.1093/brain/awz202

PMCID:: PMC6658867

Article PDF–2.0M

Select item 55388194.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow

Clin Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947

PMCID:: PMC5538819

Article PDF–311K

Select item 36271325.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H Arts, Ernie M H F Bongers, Zhimin Yap, Machteld M Oud, Dinu Antony, Lonneke Duijkers, Richard D Emes, Jim Stalker, Jan-Bart L Yntema, Vincent Plagnol, Alexander Hoischen, Christian Gilissen, Elisabeth Forsythe, Ekkehart Lausch, Joris A Veltman, Nel Roeleveld, Andrea Superti-Furga, Anna Kutkowska-Kazmierczak, Erik-Jan Kamsteeg, Nursel Elçioğlu, Merel C van Maarle, Luitgard M Graul-Neumann, Koenraad Devriendt, Sarah F Smithson, Diana Wellesley, Nienke E Verbeek, Raoul C M Hennekam, Hulya Kayserili, Peter J Scambler, Philip L Beales, Nine VAM Knoers, Ronald Roepman, Hannah M Mitchison, UK10K

J Med Genet. 2013 May; 50(5): 309–323. Published online 2013 Mar 1. doi: 10.1136/jmedgenet-2012-101284

PMCID:: PMC3627132

Article PDF–534K

Select item 26810096.

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2009 May 15; 84(5): 706–711. doi: 10.1016/j.ajhg.2009.04.016

PMCID:: PMC2681009

Article PDF–925K

Select item 26679937.

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

Amy E. Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T. Sebald, Vincent A. Funari, Matthew J. Schibler, Marc H. Firestein, Zachary A. Cohn, Mary Ann Priore, Alicia K. Thompson, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn, Deborah Krakow

Am J Hum Genet. 2009 Apr 10; 84(4): 542–549. doi: 10.1016/j.ajhg.2009.03.015

PMCID:: PMC2667993

Article PDF–1.0M

Select item 3010098.

Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.

B H Gibbons, D J Asai, W J Tang, T S Hays, I R Gibbons

Mol Biol Cell. 1994 Jan; 5(1): 57–70. doi: 10.1091/mbc.5.1.57

PMCID:: PMC301009

Summary Page Browse PDF–3.6M

Select item 48476129.

Whole exome sequencing in recurrent early pregnancy loss

Ying Qiao, Jiadi Wen, Flamingo Tang, Sally Martell, Naomi Shomer, Peter C.K. Leung, Mary D. Stephenson, Evica Rajcan-Separovic

Mol Hum Reprod. 2016 May; 22(5): 364–372. Published online 2016 Jan 28. doi: 10.1093/molehr/gaw008

PMCID:: PMC4847612

Article PDF–689K

Select item 382859110.

A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2

David Asante, Lucy MacCarthy-Morrogh, Anna K. Townley, Matthew A. Weiss, Kentaro Katayama, Krysten J. Palmer, Hiroetsu Suzuki, Chris J. Westlake, David J. Stephens

J Cell Sci. 2013 Nov 15; 126(22): 5189–5197. doi: 10.1242/jcs.131664

PMCID:: PMC3828591

Article

Select item 9960111.

Identification of a Novel Light Intermediate Chain (D2LIC) for Mammalian Cytoplasmic Dynein 2

Paula M. Grissom, Eugeni A. Vaisberg, J. Richard McIntosh

Mol Biol Cell. 2002 Mar; 13(3): 817–829. doi: 10.1091/mbc.01-08-0402

PMCID:: PMC99601

Article PDF–1.6M

Select item 212083312.

Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles

J Cell Biol. 1996 May 2; 133(4): 831–842. doi: 10.1083/jcb.133.4.831

PMCID:: PMC2120833

Summary PDF–3.2M

Select item 608065213.

Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking

Yuki Hamada, Yuta Tsurumi, Shohei Nozaki, Yohei Katoh, Kazuhisa Nakayama

Mol Biol Cell. 2018 Jul 1; 29(13): 1628–1639. doi: 10.1091/mbc.E18-03-0173

PMCID:: PMC6080652

Article PDF–2.5M

Select item 424621614.

Cytoplasmic Dynein Promotes HIV-1 Uncoating

Paulina Pawlica, Lionel Berthoux

Viruses. 2014 Nov; 6(11): 4195–4211. Published online 2014 Nov 4. doi: 10.3390/v6114195

PMCID:: PMC4246216

Article PDF–853K

Select item 461462615.

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

Ankur A. Gholkar, Silvia Senese, Yu-Chen Lo, Joseph Capri, William J Deardorff, Harish Dharmarajan, Ely Contreras, Emmanuelle Hodara, Julian P Whitelegge, Peter K Jackson, Jorge Z Torres

Cell Cycle. 2015 Apr 1; 14(7): 1116–1125. Published online 2015 Apr 1. doi: 10.4161/15384101.2014.985066

PMCID:: PMC4614626

Article PDF–1.1M

Select item 424898216.

HIV-1 Uncoating Is Facilitated by Dynein and Kinesin 1

Zana Lukic, Adarsh Dharan, Thomas Fricke, Felipe Diaz-Griffero, Edward M. Campbell

J Virol. 2014 Dec; 88(23): 13613–13625. doi: 10.1128/JVI.02219-14

PMCID:: PMC4248982

Article PDF–2.9M

Select item 133197917.

Genetic Analysis of the Cytoplasmic Dynein Subunit Families

K. Kevin Pfister, Paresh R Shah, Holger Hummerich, Andreas Russ, James Cotton, Azlina Ahmad Annuar, Stephen M King, Elizabeth M. C Fisher

PLoS Genet. 2006 Jan; 2(1): e1. Published online 2006 Jan 27. doi: 10.1371/journal.pgen.0020001

PMCID:: PMC1331979

Article PDF–318K

Select item 388826218.

Genome-wide association study of ancestry-specific TB risk in the South African Coloured population

Emile R. Chimusa, Noah Zaitlen, Michelle Daya, Marlo Möller, Paul D. van Helden, Nicola J. Mulder, Alkes L. Price, Eileen G. Hoal

Hum Mol Genet. 2014 Feb 1; 23(3): 796–809. Published online 2013 Sep 20. doi: 10.1093/hmg/ddt462

PMCID:: PMC3888262

Article PDF–560K

Select item 432144419.

Genome-wide association study of selenium concentrations

Marilyn C. Cornelis, Myriam Fornage, Millennia Foy, Pengcheng Xun, Vadim N. Gladyshev, Steve Morris, Daniel I. Chasman, Frank B. Hu, Eric B. Rimm, Peter Kraft, Joanne M. Jordan, Dariush Mozaffarian, Ka He

Hum Mol Genet. 2015 Mar 1; 24(5): 1469–1477. Published online 2014 Oct 24. doi: 10.1093/hmg/ddu546

PMCID:: PMC4321444

Article PDF–252K

Select item 461770120.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk

PLoS Genet. 2015 Oct; 11(10): e1005575. Published online 2015 Oct 20. doi: 10.1371/journal.pgen.1005575

PMCID:: PMC4617701

Article PDF–13M

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