PMC Links for Gene (Select 222546) - PMC

Select item 85049051.

A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report

Sakiho Imaki, Katsumi Iizuka, Yukio Horikawa, Megumi Yasuda, Sodai Kubota, Takehiro Kato, Yanyan Liu, Ken Takao, Masami Mizuno, Takuo Hirota, Tetsuya Suwa, Kazuyoshi Hosomichi, Atsushi Tajima, Yuuka Fujiwara, Yuji Yamazaki, Hitoshi Kuwata, Yutaka Seino, Daisuke Yabe

J Diabetes Investig. 2021 Oct; 12(10): 1914–1918. Published online 2021 Apr 9. doi: 10.1111/jdi.13545

PMCID:: PMC8504905

Article PDF–469K

Select item 56388662.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon

Nat Commun. 2017; 8: 888. Published online 2017 Oct 12. doi: 10.1038/s41467-017-00895-9

PMCID:: PMC5638866

Article PDF–670K

Select item 47952033.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard, Charles J Shaw-Smith

Eur J Hum Genet. 2015 Dec; 23(12): 1744–1748. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.161

Correction in:: Eur J Hum Genet. 2015 Dec; 23(12): 1750.

PMCID:: PMC4795203

Article PDF–431K

Select item 107195404.

RFX6 facilitates aerobic glycolysis‐mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1

Zhiyu Qiu, Chenwei Wang, Pinzhu Huang, Yichuan Yuan, Yunxing Shi, Zhu Lin, Zhenkun Huang, Dinglan Zuo, Jiliang Qiu, Wei He, Jingxian Shen, Yi Niu, Yunfei Yuan, Binkui Li

Clin Transl Med. 2023 Dec; 13(12): e1511. Published online 2023 Dec 13. doi: 10.1002/ctm2.1511

PMCID:: PMC10719540

Article PDF–14M

Select item 30427415.

Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes

Esther J. Pearl, Zeina Jarikji, Marko E. Horb

Dev Biol. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Dev Biol. 2011 Mar 1; 351(1): 135–145. Published online 2011 Jan 4. doi: 10.1016/j.ydbio.2010.12.043

PMCID:: PMC3042741

Article PDF–2.4M

Select item 33606626.

Replication and Fine Mapping for Association of the C2orf43, FOXP4, GPRC6A and RFX6 Genes with Prostate Cancer in the Chinese Population

Qing-Zhi Long, Yue-Feng Du, Xiao-Ying Ding, Xiang Li, Wen-Bin Song, Yong Yang, Peng Zhang, Jian-Ping Zhou, Xiao-Gang Liu

PLoS One. 2012; 7(5): e37866. Published online 2012 May 25. doi: 10.1371/journal.pone.0037866

PMCID:: PMC3360662

Article PDF–1.3M

Select item 25333307.

Identification and characterization of novel human tissue-specific RFX transcription factors

Syed Aftab, Lucie Semenec, Jeffrey Shih-Chieh Chu, Nansheng Chen

BMC Evol Biol. 2008; 8: 226. Published online 2008 Aug 1. doi: 10.1186/1471-2148-8-226

PMCID:: PMC2533330

Article PDF–436K

Select item 28967188.

Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans

Stuart B. Smith, Hui-Qi Qu, Nadine Taleb, Nina Kishimoto, David W. Scheel, Yang Lu, Ann-Marie Patch, Rosemary Grabs, Juehu Wang, Francis C. Lynn, Takeshi Miyatsuka, John Mitchell, Rina Seerke, Julie Désir, Serge Vanden Eijnden, Marc Abramowicz, Nadine Kacet, Jacques Weill, Marie-Éve Renard, Mattia Gentile, Inger Hansen, Ken Dewar, Andrew T. Hattersley, Rennian Wang, Maria E. Wilson, Jeffrey D. Johnson, Constantin Polychronakos, Michael S. German

Nature. Author manuscript; available in PMC 2010 Aug 11.

Published in final edited form as: Nature. 2010 Feb 11; 463(7282): 775–780. doi: 10.1038/nature08748

PMCID:: PMC2896718

Article PDF–933K

Select item 39965379.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva

Nat Commun. 2014; 5: 3650. Published online 2014 Apr 11. doi: 10.1038/ncomms4650

Correction in:: Nat Commun. 2023; 14: 569.

PMCID:: PMC3996537

Article PDF–1.9M

Select item 488219010.

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

Article PDF–1.9M

Select item 318838811.

Leveraging the power of next-generation sequencing to generate interactome datasets

Haiyuan Yu, Leah Tardivo, Stanley Tam, Evan Weiner, Fana Gebreab, Changyu Fan, Nenad Svrzikapa, Tomoko Hirozane-Kishikawa, Edward Rietman, Xinping Yang, Julie Sahalie, Kourosh Salehi-Ashtiani, Tong Hao, Michael E. Cusick, David E. Hill, Frederick P. Roth, Pascal Braun, Marc Vidal

Nat Methods. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Methods. 2011 Jun; 8(6): 478–480. Published online 2011 Apr 24. doi: 10.1038/nmeth.1597

PMCID:: PMC3188388

Article PDF–932K

Select item 326170812.

Toward an understanding of the protein interaction network of the human liver

Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang

Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67

Correction in:: Mol Syst Biol. 2017 Dec; 13(12): 965.

PMCID:: PMC3261708

Article PDF–2.0M

Select item 426658813.

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

Article PDF–3.1M

Select item 716998314.

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

Article PDF–5.4M

Select item 816503015.

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

Article PDF–2.2M

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

Article PDF–118K

Select item 317805917.

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

Article PDF–1.0M

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