PMC Links for Gene (Select 79650) - PMC

Elisa A Colombo, J Fernando Bazan, Gloria Negri, Cristina Gervasini, Nursel H Elcioglu, Deniz Yucelten, Ilknur Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K Sullivan, Albert C Yan, Ludovica Volpi, Lidia Larizza

Orphanet J Rare Dis. 2012; 7: 7. Published online 2012 Jan 23. doi: 10.1186/1750-1172-7-7

PMCID:: PMC3315733

Abstract Article PDF–5.3M

Select item 30695034.

Identification of a Novel C16orf57 Mutation in Athabaskan Patients with Poikiloderma with Neutropenia

Carol Clericuzio, Karine Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor A. Shwayder, Sharon E. Plon, Lisa L. Wang

Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Am J Med Genet A. 2011 Feb; 155(2): 337–342. Published online 2010 Dec 22. doi: 10.1002/ajmg.a.33807

PMCID:: PMC3069503

Abstract Article PDF–131K

Select item 29573225.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

Hum Mol Genet. 2010 Nov 15; 19(22): 4453–4461. Published online 2010 Sep 3. doi: 10.1093/hmg/ddq371

PMCID:: PMC2957322

Abstract Article PDF–288K

Select item 28017436.

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabio Macciardi, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza

Am J Hum Genet. 2010 Jan 8; 86(1): 72–76. doi: 10.1016/j.ajhg.2009.11.014

Correction in:: Am J Hum Genet. 2010 Sep 10; 87(3): 445.

PMCID:: PMC2801743

Article PDF–991K

Select item 70266557.

Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1

Yuichiro Nomura, Eric J Montemayor, Johanna M Virta, Samuel M Hayes, Samuel E Butcher

Nucleic Acids Res. 2020 Feb 20; 48(3): 1423–1434. Published online 2019 Dec 13. doi: 10.1093/nar/gkz1177

PMCID:: PMC7026655

Abstract Article PDF–3.7M

Select item 50466478.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

Amanda J. Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal

Haematologica. 2016 Oct; 101(10): 1180–1189. doi: 10.3324/haematol.2016.147769

PMCID:: PMC5046647

Abstract Article PDF–1.9M

Select item 34354959.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification

Seweryn Mroczek, Joanna Krwawicz, Jan Kutner, Michal Lazniewski, Iwo Kuciński, Krzysztof Ginalski, Andrzej Dziembowski

Genes Dev. 2012 Sep 1; 26(17): 1911–1925. doi: 10.1101/gad.193169.112

PMCID:: PMC3435495

Abstract Article PDF–2.5M

Select item 559127710.

Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities

Allison L. Didychuk, Eric J. Montemayor, Tucker J. Carrocci, Andrew T. DeLaitsch, Stefani E. Lucarelli, William M. Westler, David A. Brow, Aaron A. Hoskins, Samuel E. Butcher

Nat Commun. 2017; 8: 497. Published online 2017 Sep 8. doi: 10.1038/s41467-017-00484-w

PMCID:: PMC5591277

Abstract Article PDF–2.3M

Select item 1626711.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

Select item 44214812.

Functional Proteomics Mapping of a Human Signaling Pathway

Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier

Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104

PMCID:: PMC442148

Abstract Article PDF–290K

Select item 268304713.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Abstract Article PDF–1.4M

Select item 732206714.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 835296415.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Abstract Article PDF–4.5M

Select item 135612916.

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

Abstract Article PDF–438K

Select item 461721117.

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

Abstract Article PDF–2.2M

Select item 553161118.

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 816503019.

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 52892820.

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

Abstract Article PDF–140K

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