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Select item 110148881.

Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults

Nea Rinne, Patrik Wikman, Elisa Sahari, Juha Salmi, Elisabet Einarsdóttir, Juha Kere, Kimmo Alho

Cereb Cortex. 2024 Apr; 34(4): bhae144. Published online 2024 Apr 12. doi: 10.1093/cercor/bhae144

PMCID:: PMC11014888

Abstract Article PDF–1.2M

Select item 105774772.

A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia : DNAAF4 is associated with asthenozoospermia

Xiaobin Zhu, Chen Chen, Jian Song, Shijue Dong, Xuhui Zeng, Zhihong Niu, Yanwei Sha, Xiaoning Zhang

Acta Biochim Biophys Sin (Shanghai) 2023 Oct 25; 55(10): 1689–1692. Published online 2023 Sep 7. doi: 10.3724/abbs.2023147

PMCID:: PMC10577477

Article PDF–878K

Select item 81650303.

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 76468674.

Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia

Lei Zhou, Zhuozhe Li, Chunling Du, Cuicui Chen, Yingxin Sun, Liang Gu, Feng Zhou, Yuanlin Song

Mol Med Rep. 2020 Dec; 22(6): 4707–4715. Published online 2020 Oct 6. doi: 10.3892/mmr.2020.11562

PMCID:: PMC7646867

Abstract Article PDF–643K

Select item 71699835.

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 58950516.

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 55316117.

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 54171428.

The rs3743205 SNP Is Important for the Regulation of the Dyslexia Candidate Gene DYX1C1 by Estrogen Receptor β and DNA Methylation

Kristiina Tammimies, Isabel Tapia-Páez, Joëlle Rüegg, Gustaf Rosin, Juha Kere, Jan-Åke Gustafsson, Ivan Nalvarte

Mol Endocrinol. April 1, 2012; 26(4): 619–629. Published online 2012 Mar 1. doi: 10.1210/me.2011-1376

PMCID:: PMC5417142

Abstract Article

Select item 53819649.

A Family-Based Association Analysis and Meta-Analysis of the Reading Disabilities Candidate Gene DYX1C1

C. Tran, F. Gagnon, K.G. Wigg, Y. Feng, L. Gomez, T.D. Cate-Carter, E.N. Kerr, L.L. Field, B.J. Kaplan, M.W. Lovett, C.L. Barr

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2017 Apr 5.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2013 Mar; 162B(2): 146–156. Published online 2013 Jan 22. doi: 10.1002/ajmg.b.32123

PMCID:: PMC5381964

Abstract Article PDF–751K

Select item 522309410.

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019

PMCID:: PMC5223094

Abstract Article PDF–1.9M

Select item 502470111.

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

Kristiina Tammimies, Andrea Bieder, Gilbert Lauter, Debora Sugiaman-Trapman, Rachel Torchet, Marie-Estelle Hokkanen, Jan Burghoorn, Eero Castrén, Juha Kere, Isabel Tapia-Páez, Peter Swoboda

FASEB J. 2016 Oct; 30(10): 3578–3587. Published online 2016 Jul 22. doi: 10.1096/fj.201500124RR

PMCID:: PMC5024701

Abstract Article

Select item 488219012.

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 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 483349314.

Association of ADHD and the Protogenin gene in the chromosome 15q21.3 reading disabilities linkage region

K. G. Wigg, Y. Feng, J. Crosbie, R. Tannock, J. L. Kennedy, A. Ickowicz, M. Malone, R. Schachar, C. L. Barr

Genes Brain Behav. Author manuscript; available in PMC 2016 Apr 15.

Published in final edited form as: Genes Brain Behav. 2008 Nov; 7(8): 877–886. doi: 10.1111/j.1601-183X.2008.00425.x

PMCID:: PMC4833493

Abstract Article PDF–495K

Select item 461721115.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 426658816.

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 400044417.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle, Richard Francis, Gerard W. Dougherty, Joel V. Tamayo, Brett Shook, Marie Cantino, Daniel Schwartz, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Petra Pennekamp, Marouan Abouhamed, Rim Hjeij, Gabriele Köhler, Matthias Griese, You Li, Kristi Lemke, Nikolas Klena, Xiaoqin Liu, George Gabriel, Kimimasa Tobita, Martine Jaspers, Lucy C. Morgan, Adam J. Shapiro, Stef J.F. Letteboer, Dorus A. Mans, Johnny L. Carson, Margaret W. Leigh, Whitney E. Wolf, Serafine Chen, Jane S. Lucas, Alexandros Onoufriadis, Vincent Plagnol, Miriam Schmidts, Karsten Boldt, UK10K, Ronald Roepman, Maimoona Zariwala, Cecilia W. Lo, Hannah M. Mitchison, Michael R. Knowles, Rebecca D. Burdine, Joseph J. LoTurco, Heymut Omran

Nat Genet. Author manuscript; available in PMC 2014 Apr 26.

Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 995–1003. Published online 2013 Jul 21. doi: 10.1038/ng.2707

PMCID:: PMC4000444

Abstract Article PDF–2.1M

Select item 393967618.

Pleiotropic Effects of DCDC2 and DYX1C1 Genes on Language and Mathematics Traits in Nuclear Families of Developmental Dyslexia

Cecilia Marino, Sara Mascheretti, Valentina Riva, Francesca Cattaneo, Catia Rigoletto, Marianna Rusconi, Jeffrey R. Gruen, Roberto Giorda, Claudio Lazazzera, Massimo Molteni

Behav Genet. Author manuscript; available in PMC 2014 Mar 3.

Published in final edited form as: Behav Genet. 2011 Jan; 41(1): 67–76. Published online 2010 Nov 3. doi: 10.1007/s10519-010-9412-7

PMCID:: PMC3939676

Abstract Article PDF–65K

Select item 344160319.

Association of the DYX1C1 Dyslexia Susceptibility Gene with Orthography in the Chinese Population

Yuping Zhang, Jun Li, Twila Tardif, Margit Burmeister, Sandra M. Villafuerte, Catherine McBride-Chang, Hong Li, Bingjie Shi, Weilan Liang, Zhixiang Zhang, Hua Shu

PLoS One. 2012; 7(9): e42969. Published online 2012 Sep 13. doi: 10.1371/journal.pone.0042969

PMCID:: PMC3441603

Abstract Article PDF–258K

Select item 333842120.

Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues

Alexander E. Ivliev, Peter A. C. 't Hoen, Willeke M. C. van Roon-Mom, Dorien J. M. Peters, Marina G. Sergeeva

PLoS One. 2012; 7(4): e35618. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035618

PMCID:: PMC3338421

Abstract Article PDF–4.3M

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