PMC Links for GEO Profiles (Select 117848627) - PMC

Select item 89816531.

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu, Yangyang Lin

Orphanet J Rare Dis. 2022; 17: 149. Published online 2022 Apr 4. doi: 10.1186/s13023-022-02306-9

PMCID:: PMC8981653

Abstract Article PDF–1.9M

Select item 82228282.

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen

Mol Genet Genomic Med. 2021 Jun; 9(6): e1683. Published online 2021 May 12. doi: 10.1002/mgg3.1683

PMCID:: PMC8222828

Abstract Article PDF–663K

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 73367594.

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung

Mol Genet Genomic Med. 2020 Jul; 8(7): e1229. Published online 2020 Apr 30. doi: 10.1002/mgg3.1229

PMCID:: PMC7336759

Abstract Article PDF–602K

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 66441646.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy

Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat, Michael Mario Marchetii, Vandana A Gupta

Hum Mol Genet. 2019 Aug 1; 28(15): 2549–2560. Published online 2019 Apr 15. doi: 10.1093/hmg/ddz078

PMCID:: PMC6644164

Abstract Article PDF–18M

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 42665888.

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 41095459.

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Ankit Garg, Jason O’Rourke, Chengzu Long, Jonathan Doering, Gianina Ravenscroft, Svetlana Bezprozvannaya, Benjamin R. Nelson, Nadine Beetz, Lin Li, She Chen, Nigel G. Laing, Robert W. Grange, Rhonda Bassel-Duby, Eric N. Olson

J Clin Invest. 2014 Aug 1; 124(8): 3529–3539. Published online 2014 Jun 24. doi: 10.1172/JCI74994

PMCID:: PMC4109545

Abstract Article PDF–3.2M

Select item 371074810.

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko K. Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, Robert J. Bryson-Richardson, Raquel Vaz, Ozge Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly-Borri, Goknur Haliloglu, Beril Talim, Diclehan Orhan, Gulsev Kale, Adrian K. Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, Ekkhard Willichowski, Inger E. Silberg, Haluk Topaloglu, Alan H. Beggs, Richard J.N. Allcock, Ichizo Nishino, Carina Wallgren-Pettersson, Naomichi Matsumoto, Nigel G. Laing

Am J Hum Genet. 2013 Jul 11; 93(1): 6–18. doi: 10.1016/j.ajhg.2013.05.004

PMCID:: PMC3710748

Abstract Article PDF–2.4M

Select item 365894611.

Update on the Kelch-like (KLHL) gene family

Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford, James S Friedman

Hum Genomics. 2013; 7(1): 13. Published online 2013 May 15. doi: 10.1186/1479-7364-7-13

PMCID:: PMC3658946

Abstract Article PDF–1.3M

Select item 352727612.

A Synthetic Interaction Screen Identifies Factors Selectively Required for Proliferation and TERT Transcription in p53-Deficient Human Cancer Cells

Li Xie, Claude Gazin, Sung Mi Park, Lihua J. Zhu, Marie-anne Debily, Ellen L. W. Kittler, Maria L. Zapp, David Lapointe, Stephane Gobeil, Ching-Man Virbasius, Michael R. Green

PLoS Genet. 2012 Dec; 8(12): e1003151. Published online 2012 Dec 20. doi: 10.1371/journal.pgen.1003151