PMC Links for GEO Profiles (Select 132659121) - PMC

Select item 99085581.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

Mol Psychiatry. 2023; 28(2): 668–697. Published online 2022 Nov 16. doi: 10.1038/s41380-022-01852-9

PMCID:: PMC9908558

Abstract Article PDF–7.6M

Select item 81650302.

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 71699833.

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 58269264.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 57948765.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, J Boyle, M Leffler, M Raynaud, C Moraine, H van Bokhoven, T Kleefstra, K Kahrizi, H Najmabadi, H-H Ropers, M R Delgado, D Sirsi, S Golla, A Sommer, M P Pietryga, W K Chung, J Wynn, L Rohena, E Bernardo, D Hamlin, B M Faux, D K Grange, L Manwaring, J Tolmie, S Joss, DDD Study, J M Cobben, F A M Duijkers, J M Goehringer, T D Challman, F Hennig, U Fischer, A Grimme, V Suckow, L Musante, J Nicholl, M Shaw, S P Lodh, Z Niu, J A Rosenfeld, P Stankiewicz, T J Jentsch, J Gecz, M Field, V M Kalscheuer

Mol Psychiatry. 2018 Feb; 23(2): 222–230. Published online 2016 Aug 23. doi: 10.1038/mp.2016.135

PMCID:: PMC5794876

Abstract Article PDF–662K

Select item 57044866.

Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments

Raul E. Guzman, Stefanie Bungert-Plümke, Arne Franzen, Christoph Fahlke

J Biol Chem. 2017 Nov 17; 292(46): 19055–19065. Published online 2017 Sep 26. doi: 10.1074/jbc.M117.801951

PMCID:: PMC5704486

Abstract Article PDF–3.9M

Select item 54140917.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier, T Zemojtel, M I Love, H Richard, A-K Emde, M Bienek, C Jensen, M Hambrock, U Fischer, C Langnick, M Feldkamp, W Wissink-Lindhout, N Lebrun, L Castelnau, J Rucci, R Montjean, O Dorseuil, P Billuart, T Stuhlmann, M Shaw, M A Corbett, A Gardner, S Willis-Owen, C Tan, K L Friend, S Belet, K E P van Roozendaal, M Jimenez-Pocquet, M-P Moizard, N Ronce, R Sun, S O'Keeffe, R Chenna, A van Bömmel, J Göke, A Hackett, M Field, L Christie, J Boyle, E Haan, J Nelson, G Turner, G Baynam, G Gillessen-Kaesbach, U Müller, D Steinberger, B Budny, M Badura-Stronka, A Latos-Bieleńska, L B Ousager, P Wieacker, G Rodríguez Criado, M-L Bondeson, G Annerén, A Dufke, M Cohen, L Van Maldergem, C Vincent-Delorme, B Echenne, B Simon-Bouy, T Kleefstra, M Willemsen, J-P Fryns, K Devriendt, R Ullmann, M Vingron, K Wrogemann, T F Wienker, A Tzschach, H van Bokhoven, J Gecz, T J Jentsch, W Chen, H-H Ropers, V M Kalscheuer

Mol Psychiatry. 2016 Jan; 21(1): 133–148. Published online 2015 Feb 3. doi: 10.1038/mp.2014.193

PMCID:: PMC5414091

Abstract Article PDF–1.0M

Select item 37005778.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

Krishna R Veeramah, Laurel Johnstone, Tatiana M Karafet, Daniel Wolf, Ryan Sprissler, John Salogiannis, Asa Barth-Maron, Michael E Greenberg, Till Stuhlmann, Stefanie Weinert, Thomas Jentsch, Marjorie Pazzi, Linda L Restifo, Dinesh Talwar, Robert P Erickson, Michael F Hammer

Epilepsia. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Epilepsia. 2013 Jul; 54(7): 1270–1281. Published online 2013 May 3. doi: 10.1111/epi.12201

PMCID:: PMC3700577

Abstract Article PDF–1.1M

Select item 31780599.

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 304321610.

Anion- and Proton-Dependent Gating of ClC-4 Anion/Proton Transporter under Uncoupling Conditions

Gökce Orhan, Christoph Fahlke, Alexi K. Alekov

Biophys J. 2011 Mar 2; 100(5): 1233–1241. doi: 10.1016/j.bpj.2011.01.045

PMCID:: PMC3043216

Abstract Article PDF–1015K

Select item 283757911.

Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases

T Ishiguro, H Avila, S-Y Lin, T Nakamura, M Yamamoto, D D Boyd

Br J Cancer. 2010 Feb 16; 102(4): 774–782. Published online 2010 Jan 19. doi: 10.1038/sj.bjc.6605536

PMCID:: PMC2837579

Abstract Article PDF–747K

Select item 271297212.

Channel-like slippage modes in the human anion/proton exchanger ClC-4

Alexi K. Alekov, Christoph Fahlke

J Gen Physiol. 2009 May; 133(5): 485–496. doi: 10.1085/jgp.200810155

PMCID:: PMC2712972

Abstract Article PDF–3.1M

Select item 236716513.

Identification and Functional Characterization of a Voltage-gated Chloride Channel and Its Novel Splice Variant in Taste Bud Cells

Liquan Huang, Jie Cao, Hong Wang, Lynn A. Vo, Joseph G. Brand

J Biol Chem. Author manuscript; available in PMC 2008 May 5.

Published in final edited form as: J Biol Chem. 2005 Oct 28; 280(43): 36150–36157. Published online 2005 Aug 29. doi: 10.1074/jbc.M507706200

PMCID:: PMC2367165

Abstract Article PDF–1.4M

Select item 175717414.

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

E Tobias, G Bryce, G Farmer, J Barton, J Colgan, N Morrison, A Cooke, J Tolmie

J Med Genet. 2001 Jul; 38(7): 466–470. doi: 10.1136/jmg.38.7.466

PMCID:: PMC1757174

Summary PDF–187K

Select item 51531615.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Abstract Article PDF–181K

Select item 13924116.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 13914617.

Large-Scale Concatenation cDNA Sequencing

Wei Yu, Björn Andersson, Kim C. Worley, Donna M. Muzny, Yan Ding, Wen Liu, Jennifer Y. Ricafrente, Meredith A. Wentland, Greg Lennon, Richard A. Gibbs

Genome Res. 1997 Apr; 7(4): 353–358. doi: 10.1101/gr.7.4.353

PMCID:: PMC139146

Abstract Article PDF–62K

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