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Select item 98407261.

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility

Yunhao Li, Yong Li, Ying Wang, Lanlan Meng, Chen Tan, Juan Du, Yue-Qiu Tan, Hongchuan Nie, Qianjun Zhang, Guangxiu Lu, Ge Lin, Huanzhu Li, Huan Zhang, Chaofeng Tu

J Assist Reprod Genet. 2023 Jan; 40(1): 41–51. Published online 2022 Dec 14. doi: 10.1007/s10815-022-02681-z

PMCID:: PMC9840726

Abstract Article PDF–2.6M

Select item 58173652.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

Lv Liu, Hong Luo

Biomed Res Int. 2018; 2018: 1854269. Published online 2018 Jan 8. doi: 10.1155/2018/1854269

PMCID:: PMC5817365

Abstract Article PDF–1.4M

Select item 36023023.

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

Amjad Horani, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Yifat S. Oren, Batsheva Kerem, Israel Amirav, Malena Cohen-Cymberknoh, Susan K. Dutcher, Steven L. Brody, Orly Elpeleg, Eitan Kerem

PLoS One. 2013; 8(3): e59436. Published online 2013 Mar 19. doi: 10.1371/journal.pone.0059436

PMCID:: PMC3602302

Abstract Article PDF–7.5M

Select item 10842844.

An Evolutionarily Conserved Coiled-Coil Protein Implicated in Polycystic Kidney Disease Is Involved in Basal Body Duplication and Flagellar Biogenesis in Trypanosoma brucei

Gareth W. Morgan, Paul W. Denny, Sue Vaughan, David Goulding, Tim R. Jeffries, Deborah F. Smith, Keith Gull, Mark C. Field

Mol Cell Biol. 2005 May; 25(9): 3774–3783. doi: 10.1128/MCB.25.9.3774-3783.2005

PMCID:: PMC1084284

Abstract Article PDF–862K

Select item 34871485.

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot-Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean-François Papon, Jean-Pierre Siffroi, Nathalie Rives, Valérie Mitchell, Jacques de Blic, André Coste, Annick Clement, Denise Escalier, Aminata Touré, Estelle Escudier, Serge Amselem

Am J Hum Genet. 2012 Nov 2; 91(5): 958–964. doi: 10.1016/j.ajhg.2012.10.003

PMCID:: PMC3487148

Abstract Article PDF–589K

Select item 28709536.

Hearing in Drosophila Requires TilB, a Conserved Protein Associated With Ciliary Motility

Ryan G. Kavlie, Maurice J. Kernan, Daniel F. Eberl

Genetics. 2010 May; 185(1): 177–188. doi: 10.1534/genetics.110.114009

PMCID:: PMC2870953

Abstract Article PDF–3.2M

Select item 37388277.

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon D. Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julian Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney E. Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy C. Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, Sivakumar Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim Nielsen, Nicolaus Schwerk, Jadranka Sertic, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner-Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Aug 8; 93(2): 336–345. doi: 10.1016/j.ajhg.2013.06.007

PMCID:: PMC3738827

Abstract Article PDF–1.9M

Select item 37388358.

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Daniel J. Moore, Alexandros Onoufriadis, Amelia Shoemark, Michael A. Simpson, Petra I. zur Lage, Sandra C. de Castro, Lucia Bartoloni, Giuseppe Gallone, Stavroula Petridi, Wesley J. Woollard, Dinu Antony, Miriam Schmidts, Teresa Didonna, Periklis Makrythanasis, Jeremy Bevillard, Nigel P. Mongan, Jana Djakow, Gerard Pals, Jane S. Lucas, June K. Marthin, Kim G. Nielsen, Federico Santoni, Michel Guipponi, Claire Hogg, Stylianos E. Antonarakis, Richard D. Emes, Eddie M.K. Chung, Nicholas D.E. Greene, Jean-Louis Blouin, Andrew P. Jarman, Hannah M. Mitchison

Am J Hum Genet. 2013 Aug 8; 93(2): 346–356. doi: 10.1016/j.ajhg.2013.07.009

PMCID:: PMC3738835

Abstract Article PDF–2.5M

Select item 34871399.

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, Julia Dallman, Mingqian Huang, Theo A. Peters, Asli Sirmaci, Na Lu, Margit Schraders, Isaac Skromne, Jaap Oostrik, Oscar Diaz-Horta, Juan I. Young, Suna Tokgoz-Yilmaz, Ozlem Konukseven, Hashem Shahin, Lisette Hetterschijt, Moien Kanaan, Anne M.M. Oonk, Yvonne J.K. Edwards, Huawei Li, Semra Atalay, Susan Blanton, Alexandra A. DeSmidt, Xue-Zhong Liu, Ronald J.E. Pennings, Zhongmin Lu, Zheng-Yi Chen, Hannie Kremer, Mustafa Tekin

Am J Hum Genet. 2012 Nov 2; 91(5): 872–882. doi: 10.1016/j.ajhg.2012.09.011

PMCID:: PMC3487139

Abstract Article PDF–1.1M

Select item 589505110.

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms

Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee

PLoS Genet. 2018 Mar; 14(3): e1007316. Published online 2018 Mar 30. doi: 10.1371/journal.pgen.1007316

PMCID:: PMC5895051

Abstract Article PDF–20M

Select item 267375811.

Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning

Fabrizio C. Serluca, Bo Xu, Noriko Okabe, Kari Baker, Shin-Yi Lin, Jessica Sullivan-Brown, David J. Konieczkowski, Kimberly M. Jaffe, Joshua M. Bradner, Mark C. Fishman, Rebecca D. Burdine

Development. 2009 May 15; 136(10): 1621–1631. Published online 2009 Apr 24. doi: 10.1242/dev.020735

PMCID:: PMC2673758

Abstract Article

Select item 410454412.

A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways

Mikko Taipale, George Tucker, Jian Peng, Irina Krykbaeva, Zhen-Yuan Lin, Brett Larsen, Hyungwon Choi, Bonnie Berger, Anne-Claude Gingras, Susan Lindquist

Cell. Author manuscript; available in PMC 2015 Jul 17.

Published in final edited form as: Cell. 2014 Jul 17; 158(2): 434–448. doi: 10.1016/j.cell.2014.05.039

PMCID:: PMC4104544

Abstract Article PDF–3.2M

Select item 486917013.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 503652714.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Abstract Article PDF–4.7M

Select item 616668215.

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 135612916.

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 716998317.

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 553161118.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503019.

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