PMC Links for Gene (Select 221264) - PMC

Select item 52559601.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law

Eur J Hum Genet. 2017 Feb; 25(2): 192–199. Published online 2016 Dec 14. doi: 10.1038/ejhg.2016.162

PMCID:: PMC5255960

Article PDF–2.2M

Select item 107433662.

A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus

Hong Wei Yang, Semin Lee, Bethany C. Berry, Dejun Yang, Shaokuan Zheng, Rona S. Carroll, Peter J. Park, Mark D. Johnson

Proc Natl Acad Sci U S A. 2023 Dec 19; 120(51): e2300681120. Published online 2023 Dec 15. doi: 10.1073/pnas.2300681120

PMCID:: PMC10743366

Article PDF–3.3M

Select item 105071403.

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Yanwei Sha, Wensheng Liu, Shu Li, Ludmila V. Osadchuk, Yongjie Chen, Hua Nie, Shuai Gao, Linna Xie, Weibing Qin, Huiliang Zhou, Lin Li

eBioMedicine. 2023 Oct; 96: 104798. Published online 2023 Sep 13. doi: 10.1016/j.ebiom.2023.104798

Correction in:: eBioMedicine. 2024 Jan; 99: 104957.

PMCID:: PMC10507140

Article PDF–4.9M

Select item 29091504.

Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities

Sophia J Docherty, Yulia Kovas, Stephen A Petrill, Robert Plomin

BMC Genet. 2010; 11: 61. Published online 2010 Jul 5. doi: 10.1186/1471-2156-11-61

PMCID:: PMC2909150

Article PDF–587K

Select item 73200435.

Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation

Bethany Mason, Susanne Flach, Felipe R. Teixeira, Raquel Manzano Garcia, Oscar M. Rueda, Jean E. Abraham, Carlos Caldas, Paul A. W. Edwards, Heike Laman

Cell Mol Life Sci. 2020; 77(13): 2605–2620. Published online 2019 Sep 27. doi: 10.1007/s00018-019-03306-y

PMCID:: PMC7320043

Article PDF–2.5M

Select item 94754626.

ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold

Wenjing Yang, Beili Wang, Qian Yu, Te Liu, Tong Li, Tongtong Tian, Anli Jin, Lin Ding, Wei Chen, Hao Wang, Jingrong Xian, Baishen Pan, Jian Zhou, Jia Fan, Xinrong Yang, Wei Guo

Theranostics. 2022; 12(14): 6189–6206. Published online 2022 Aug 21. doi: 10.7150/thno.72134

PMCID:: PMC9475462

Article PDF–4.6M

Select item 99224687.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Article PDF–4.9M

Select item 30085868.

Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics

Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper

Cell. Author manuscript; available in PMC 2011 Dec 10.

Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017

PMCID:: PMC3008586

Article PDF–3.0M

Select item 105658769.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Article PDF–3.7M

Select item 677813710.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Article PDF–7.8M

Select item 289646411.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Article PDF–2.4M

Select item 503652712.

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

Article PDF–4.7M

Select item 135612913.

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

Article PDF–438K

Select item 553161114.

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

Article PDF–2.7M

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