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Items: 20

1.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment
Khurram Liaqat, Thashi Bharadwaj, Khadim Shah, Abdul Nasir, Anushree Acharya, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Clin Genet. Author manuscript; available in PMC 2024 Apr 24.
Published in final edited form as: Clin Genet. 2023 Oct; 104(4): 499–501. Published online 2023 Jun 13. doi: 10.1111/cge.14390
PMCID:
PMC11041622
ArticlePDF–619K
2.
Structure of the nutrient-sensing hub GATOR2
Max L. Valenstein, Kacper B. Rogala, Pranav V. Lalgudi, Edward J. Brignole, Xin Gu, Robert A. Saxton, Lynne Chantranupong, Jonas Kolibius, Jan-Philipp Quast, David M. Sabatini
Nature. Author manuscript; available in PMC 2023 Jan 13.
Published in final edited form as: Nature. 2022 Jul; 607(7919): 610–616. Published online 2022 Jul 13. doi: 10.1038/s41586-022-04939-z
PMCID:
PMC9464592
AbstractArticlePDF–6.9M
3.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
4.
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
AbstractArticlePDF–2.2M
5.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
6.
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing
Isabelle Thiffault, Andrea Atherton, Bryce A. Heese, Ahmed T. Abdelmoity, Kailash Pawar, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Carol Saunders
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a003970. doi: 10.1101/mcs.a003970
PMCID:
PMC7304362
AbstractArticlePDF–1.4M
7.
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
AbstractArticlePDF–2.7M
8.
KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1
Rachel L. Wolfson, Lynne Chantranupong, Gregory A. Wyant, Xin Gu, Jose M. Orozco, Kuang Shen, Kendall J. Condon, Sabrina Petri, Jibril Kedir, Sonia M. Scaria, Monther Abu-Remaileh, Wayne N. Frankel, David M. Sabatini
Nature. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: Nature. 2017 Mar 16; 543(7645): 438–442. Published online 2017 Feb 15. doi: 10.1038/nature21423
PMCID:
PMC5360989
AbstractArticlePDF–1.9M
9.
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
AbstractArticlePDF–2.2M
10.
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
Emma L. Baple, Reza Maroofian, Barry A. Chioza, Maryam Izadi, Harold E. Cross, Saeed Al-Turki, Katy Barwick, Anna Skrzypiec, Robert Pawlak, Karin Wagner, Roselyn Coblentz, Tala Zainy, Michael A. Patton, Sahar Mansour, Phillip Rich, Britta Qualmann, Matt E. Hurles, Michael M. Kessels, Andrew H. Crosby
Am J Hum Genet. 2014 Jan 2; 94(1): 87–94. doi: 10.1016/j.ajhg.2013.10.001
PMCID:
PMC3882725
AbstractArticlePDF–1.5M
11.
2E4 (Kaptin): A novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear
Elaine L. Bearer, Manoj T. Abraham
Eur J Cell Biol. Author manuscript; available in PMC 2012 Jun 15.
Published in final edited form as: Eur J Cell Biol. 1999 Feb; 78(2): 117–126. doi: 10.1016/S0171-9335(99)80013-2
PMCID:
PMC3376092
AbstractArticlePDF–8.1M
12.
Actin Dynamics in Platelets
E.L. Bearer, J.M. Prakash, Z. Li
Int Rev Cytol. Author manuscript; available in PMC 2012 Jun 15.
Published in final edited form as: Int Rev Cytol. 2002; 217: 137–182. doi: 10.1016/s0074-7696(02)17014-8
PMCID:
PMC3376087
AbstractArticlePDF–3.9M
13.
2E4/Kaptin (KPTN) – a candidate gene for the hearing loss locus, DFNA4
E. L. BEARER, A. F. CHEN, A. H. CHEN, Z. LI, H.-F. MARK, R. J. H. SMITH, C. L. JACKSON
Ann Hum Genet. Author manuscript; available in PMC 2012 Jun 15.
Published in final edited form as: Ann Hum Genet. 2000 May; 64(Pt 3): 189–196. doi: 10.1046/j.1469-1809.2000.6430189.x
PMCID:
PMC3376086
AbstractArticlePDF–825K
14.
An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells
EL Bearer
J Neurosci. 1992 Mar 1; 12(3): 750–761. doi: 10.1523/JNEUROSCI.12-03-00750.1992
PMCID:
PMC3376081
AbstractPDF–5.0M
15.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
16.
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
AbstractArticlePDF–1.0M
17.
Large-scale mapping of human protein–protein interactions by mass spectrometry
Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys
Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134
PMCID:
PMC1847948
AbstractArticlePDF–440K
18.
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
AbstractArticlePDF–438K
19.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
20.
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
AbstractArticlePDF–118K

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