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Select item 112749981.

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich, Isabella Aprea, Bernd Dworniczak, Johanna Raidt, Heymut Omran

Cells. 2024 Jul; 13(14): 1200. Published online 2024 Jul 15. doi: 10.3390/cells13141200

PMCID:: PMC11274998

Abstract Article PDF–2.8M

Select item 106298242.

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

Denis Dacheux, Guillaume Martinez, Christine E Broster Reix, Julie Beurois, Patrick Lores, Magamba Tounkara, Jean-William Dupuy, Derrick Roy Robinson, Corinne Loeuillet, Emeline Lambert, Zeina Wehbe, Jessica Escoffier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Raoudha Zouari, Selima Fourati Ben Mustapha, Lazhar Halouani, Xiaohui Jiang, Ying Shen, Chunyu Liu, Nicolas Thierry-Mieg, Amandine Septier, Marie Bidart, Véronique Satre, Caroline Cazin, Zine Eddine Kherraf, Christophe Arnoult, Pierre F Ray, Aminata Toure, Mélanie Bonhivers, Charles Coutton

eLife. 2023; 12: RP87698. Published online 2023 Nov 7. doi: 10.7554/eLife.87698

PMCID:: PMC10629824

Abstract Article PDF–4.2M

Select item 104112653.

Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella

Meng Wang, Qi-Yu Yang, Jue-Pu Zhou, Hui-Ping Tan, Juan Hu, Lei Jin, Li-Xia Zhu

Asian J Androl. 2023 Jul-Aug; 25(4): 512–519. Published online 2022 Dec 9. doi: 10.4103/aja202292

PMCID:: PMC10411265

Abstract Article PDF–1.7M

Select item 86358594.

Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice

Ranjha Khan, Qumar Zaman, Jing Chen, Manan Khan, Ao Ma, Jianteng Zhou, Beibei Zhang, Asim Ali, Muhammad Naeem, Muhammad Zubair, Daren Zhao, Wasim Shah, Mazhar Khan, Yuanwei Zhang, Bo Xu, Huan Zhang, Qinghua Shi

Front Endocrinol (Lausanne) 2021; 12: 765639. Published online 2021 Nov 17. doi: 10.3389/fendo.2021.765639

PMCID:: PMC8635859

Abstract Article PDF–6.2M

Select item 84172025.

Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review

Wen Yu, Miao An, Yang Xu, Qingqiang Gao, Mujun Lu, Yingying Li, Li Zhang, Hongxiang Wang, Zhipeng Xu

J Assist Reprod Genet. 2021 Aug; 38(8): 2031–2038. Published online 2021 Apr 30. doi: 10.1007/s10815-021-02201-5

Correction in:: J Assist Reprod Genet. 2021 Aug; 38(8): 2039.

PMCID:: PMC8417202

Abstract Article PDF–988K

Select item 83641816.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 75237067.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9

PMCID:: PMC7523706

Abstract Article PDF–2.3M

Select item 71830398.

Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection

Huan Wu, Jiajia Wang, Huiru Cheng, Yang Gao, Wangjie Liu, Zhiguo Zhang, Huanhuan Jiang, Weiyu Li, Fuxi Zhu, Mingrong Lv, Chunyu Liu, Qing Tan, Xiaofeng Zhang, Chao Wang, Xiaoqing Ni, Yujie Chen, Bing Song, Ping Zhou, Zhaolian Wei, Feng Zhang, Xiaojin He, Yunxia Cao

J Assist Reprod Genet. 2020 Apr; 37(4): 829–840. Published online 2020 Mar 2. doi: 10.1007/s10815-020-01721-w

PMCID:: PMC7183039

Abstract Article PDF–1.1M

Select item 67632429.

Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development

Pu Wang, Feng Yan, Zhijun Li, Yanbao Yu, Scott E. Parnell, Yue Xiong

J Clin Invest. 2019 Oct 1; 129(10): 4393–4407. Published online 2019 Sep 9. doi: 10.1172/JCI129107

PMCID:: PMC6763242

Abstract Article PDF–12M

Select item 631052810.

Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study

Xiao Yang, Dongliang Zhu, Hongguo Zhang, Yuting Jiang, Xiaonan Hu, Dongfeng Geng, Ruixue Wang, Ruizhi Liu

Medicine (Baltimore) 2018 Dec; 97(49): e13493. Published online 2018 Dec 10. doi: 10.1097/MD.0000000000013493

PMCID:: PMC6310528

Abstract Article PDF–545K

Select item 616668211.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 549522512.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 545599613.

Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers

Joseph Rosenbluh, Johnathan Mercer, Yashaswi Shrestha, Rachel Oliver, Pablo Tamayo, John G. Doench, Itay Tirosh, Federica Piccioni, Ella Hartenian, Heiko Horn, Lola Fagbami, David E. Root, Jacob Jaffe, Kasper Lage, Jesse S. Boehm, William C. Hahn

Cell Syst. Author manuscript; available in PMC 2017 Sep 28.

Published in final edited form as: Cell Syst. 2016 Sep 28; 3(3): 302–316.e4. doi: 10.1016/j.cels.2016.09.001

PMCID:: PMC5455996

Abstract Article PDF–3.1M

Select item 461770114.

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

Abstract Article PDF–13M

Select item 442206115.

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed

BMC Med Genet. 2015; 16: 14. Published online 2015 Mar 17. doi: 10.1186/s12881-015-0162-5

PMCID:: PMC4422061

Abstract Article PDF–1.9M

Select item 388273416.

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grunwald, Denise Escalier, Karine Pernet-Gallay, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Pierre F. Ray

Am J Hum Genet. 2014 Jan 2; 94(1): 95–104. doi: 10.1016/j.ajhg.2013.11.017

PMCID:: PMC3882734

Abstract Article PDF–1.2M

Select item 382797917.

Genome-wide Association Analysis Identifies 14 New Risk Loci for Schizophrenia

Stephan Ripke, Colm O'Dushlaine, Kimberly Chambert, Jennifer L Moran, Anna K Kähler, Susanne Akterin, Sarah Bergen, Ann L Collins, James J Crowley, Menachem Fromer, Yunjung Kim, Sang Hong Lee, Patrik KE Magnusson, Nick Sanchez, Eli A Stahl, Stephanie Williams, Naomi R Wray, Kai Xia, Francesco Bettella, Anders D Børglum, Brendan K Bulik-Sullivan, Paul Cormican, Nick Craddock, Christiaan de Leeuw, Naser Durmishi, Michael Gill, Vera Golimbet, Marian L Hamshere, Peter Holmans, David M Hougaard, Kenneth S Kendler, Kuang Lin, Derek W Morris, Ole Mors, Preben B Mortensen, Benjamin M Neale, Francis A O'Neill, Michael J Owen, MilicaPejovic Milovancevic, Danielle Posthuma, John Powell, Alexander L Richards, Brien P Riley, Douglas Ruderfer, Dan Rujescu, Engilbert Sigurdsson, Teimuraz Silagadze, August B Smit, Hreinn Stefansson, Stacy Steinberg, Jaana Suvisaari, Sarah Tosato, Matthijs Verhage, James T Walters, Multicenter Genetic Studies of Schizophrenia Consortium, Psychosis Endophenotypes Consortium, Wellcome Trust Case-Control Consortium, Elvira Bramon, Aiden P Corvin, Michael C O'Donovan, Kari Stefansson, Edward Scolnick, Shaun Purcell, Steve McCarroll, Pamela Sklar, Christina M Hultman, Patrick F Sullivan

Nat Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1150–1159. Published online 2013 Aug 25. doi: 10.1038/ng.2742

PMCID:: PMC3827979

Abstract Article PDF–848K

Select item 363717618.

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Pamela Sklar, Stephan Ripke, Laura J. Scott, Ole A. Andreassen, Sven Cichon, Nick Craddock, Howard J. Edenberg, John I. Nurnberger, Marcella Rietschel, Douglas Blackwood, Aiden Corvin, Matthew Flickinger, Weihua Guan, Morten Mattingsdal, Andrew Mcquillin, Phoenix Kwan, Thomas F. Wienker, Mark Daly, Frank Dudbridge, Peter A. Holmans, Danyu Lin, Margit Burmeister, Tiffany A. Greenwood, Marian L. Hamshere, Pierandrea Muglia, Erin N. Smith, Peter P. Zandi, Caroline M. Nievergelt, Rebecca Mckinney, Paul D. Shilling, Nicholas J. Schork, Cinnamon S. Bloss, Tatiana Foroud, Daniel L. Koller, Elliot S. Gershon, Chunyu Liu, Judith A. Badner, William A. Scheftner, William B. Lawson, Evaristus A. Nwulia, Maria Hipolito, William Coryell, John P. Rice, William Byerley, Francis J. McMahon, Thomas G. Schulze, Wade Berrettini, Falk W. Lohoff, James B. Potash, Pamela B. Mahon, Melvin G. Mcinnis, Sebastian Zöllner, Peng Zhang, David W. Craig, Szabocls Szelinger, Thomas B. Barrett, René Breuer, Sandra Meier, Jana Strohmaier, Stephanie H. Witt, Federica Tozzi, Anne Farmer, Peter McGuffin, John Strauss, Wei Xu, James L. Kennedy, John B. Vincent, Keith Matthews, Richard Day, Manuel D.C. Ferreira, Colm O'Dushlaine, Roy Perlis, Soumya Raychaudhuri, Douglas Ruderfer, Phil L. Hyoun, Jordan W. Smoller, Jun Li, Devin Absher, Robert C. Thompson, Fan Guo Meng, Alan F. Schatzberg, William E. Bunney, Jack D. Barchas, Edward G. Jones, Stanley J. Watson, Richard M. Myers, Huda Akil, Michael Boehnke, Kim Chambert, Jennifer Moran, Ed Scolnick, Srdjan Djurovic, Ingrid Melle, Gunnar Morken, Michael Gill, Derek Morris, Emma Quinn, Thomas W. Mühleisen, Franziska A. Degenhardt, Manuel Mattheisen, Johannes Schumacher, Wolfgang Maier, Michael Steffens, Peter Propping, Markus M. Nöthen, Adebayo Anjorin, Nick Bass, Hugh Gurling, Radhika Kandaswamy, Jacob Lawrence, Kevin Mcghee, Andrew Mcintosh, Alan W. Mclean, Walter J. Muir, Benjamin S. Pickard, Gerome Breen, David St Clair, Sian Caesar, Katherine Gordon-Smith, Lisa Jones, Christine Fraser, Elaine K. Green, Detelina Grozeva, Ian R. Jones, George Kirov, Valentina Moskvina, Ivan Nikolov, Michael C. O'Donovan, Michael J. Owen, David A. Collier, Amanda Elkin, Richard Williamson, Allan H. Young, I Nicol Ferrier, Kari Stefansson, Hreinn Stefansson, Porgeir Porgeirsson, Stacy Steinberg, Omar Gustafsson, Sarah E. Bergen, Vishwajit Nimgaonkar, Christina hultman, Mikael Landén, Paul Lichtenstein, Patrick Sullivan, Martin Schalling, Urban Osby, Lena Backlund, Louise Frisén, Niklas Langstrom, Stéphane Jamain, Marion Leboyer, Bruno Etain, Frank Bellivier, Hannes Petursson, Engilbert Sigur Sson, Bertram Müller-Mysok, Susanne Lucae, Markus Schwarz, Peter R. Schofield, Nick Martin, Grant W. Montgomery, Mark Lathrop, Högni Oskarsson, Michael Bauer, Adam Wright, Philip B. Mitchell, Martin Hautzinger, Andreas Reif, John R. Kelsoe, Shaun M. Purcell

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2011 Oct; 43(10): 977–983. Published online 2011 Sep 18. doi: 10.1038/ng.943

Correction in:: volume 44 on page 1072

PMCID:: PMC3637176

Abstract Article

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

Select item 269147920.

SNX4 in Complex with Clathrin and Dynein: Implications for Endosome Movement

Sigrid S. Skånland, Sébastien Wälchli, Andreas Brech, Kirsten Sandvig

PLoS One. 2009; 4(6): e5935. Published online 2009 Jun 16. doi: 10.1371/journal.pone.0005935

PMCID:: PMC2691479

Abstract Article PDF–724K

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