PMC Links for GEO Profiles (Select 32436909) - PMC

Select item 83071941.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Select item 80084862.

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

Victoria L. Wyckelsma, Tomas Venckunas, Peter J. Houweling, Maja Schlittler, Volker M. Lauschke, Chrystal F. Tiong, Harrison D. Wood, Niklas Ivarsson, Henrikas Paulauskas, Nerijus Eimantas, Daniel C. Andersson, Kathryn N. North, Marius Brazaitis, Håkan Westerblad

Am J Hum Genet. 2021 Mar 4; 108(3): 446–457. Published online 2021 Feb 17. doi: 10.1016/j.ajhg.2021.01.013

PMCID:: PMC8008486

Abstract Article PDF–1.5M

Select item 71699833.

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 62056884.

The clinical spectrum of CASQ1-related myopathy

Claudio Semplicini, Cinzia Bertolin, Luca Bello, Boris Pantic, Francesca Guidolin, Sara Vianello, Francesco Catapano, Irene Colombo, Maurizio Moggio, Bruno F. Gavassini, Giovanna Cenacchi, Valentina Papa, Marco Previtero, Chiara Calore, Gianni Sorarù, Giovanni Minervini, Silvio C.E. Tosatto, Roberto Stramare, Elena Pegoraro

Neurology. 2018 Oct 23; 91(17): e1629–e1641. doi: 10.1212/WNL.0000000000006387

PMCID:: PMC6205688

Abstract Article PDF–1.3M

Select item 60777225.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 48732056.

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca²⁺ Release

Maria Cristina D’Adamo, Luigi Sforna, Sergio Visentin, Alessandro Grottesi, llenio Servettini, Luca Guglielmi, Lara Macchioni, Simona Saredi, Maurizio Curcio, Chiara De Nuccio, Sonia Hasan, Lanfranco Corazzi, Fabio Franciolini, Marina Mora, Luigi Catacuzzeno, Mauro Pessia

PLoS One. 2016; 11(5): e0155516. Published online 2016 May 19. doi: 10.1371/journal.pone.0155516

PMCID:: PMC4873205

Abstract Article PDF–2.0M

Select item 46613827.

Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy

Kevin M. Lewis, Leslie A. Ronish, Eduardo Ríos, ChulHee Kang

J Biol Chem. 2015 Nov 27; 290(48): 28665–28674. Published online 2015 Sep 28. doi: 10.1074/jbc.M115.686261

PMCID:: PMC4661382

Abstract Article PDF–2.9M

Select item 44113418.

An Association Study of CASQ1 Gene Polymorphisms and Heat Stroke

Ying Li, Yu Wang, Lin Ma

Genomics Proteomics Bioinformatics. 2014 Jun; 12(3): 127–132. Published online 2014 Jun 2. doi: 10.1016/j.gpb.2014.03.004

PMCID:: PMC4411341

Abstract Article PDF–588K

Select item 41773049.

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates

Daniela Rossi, Bianca Vezzani, Lucia Galli, Cecilia Paolini, Luana Toniolo, Enrico Pierantozzi, Simone Spinozzi, Virginia Barone, Elena Pegoraro, Luca Bello, Giovanna Cenacchi, Gaetano Vattemi, Giuliano Tomelleri, Giulia Ricci, Gabriele Siciliano, Feliciano Protasi, Carlo Reggiani, Vincenzo Sorrentino

Hum Mutat. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Hum Mutat. 2014 Oct; 35(10): 1163–1170. Published online 2014 Sep 10. doi: 10.1002/humu.22631

PMCID:: PMC4177304

Abstract Article PDF–958K

Select item 412440810.

Reduced expression of Ca²⁺-regulating proteins in the upper gastrointestinal tract of patients with achalasia

Harald Fischer, Judith Fischer, Peter Boknik, Ulrich Gergs, Wilhelm Schmitz, Wolfram Domschke, Jan W Konturek, Joachim Neumann

World J Gastroenterol. 2006 Oct 7; 12(37): 6002–6007. Published online 2006 Oct 7. doi: 10.3748/wjg.v12.i37.6002

PMCID:: PMC4124408

Abstract Article PDF–880K

Select item 387276911.

Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres

C R Lamboley, R M Murphy, M J McKenna, G D Lamb

J Physiol. 2013 Dec 1; 591(Pt 23): 6053–6068. Published online 2013 Oct 14. doi: 10.1113/jphysiol.2013.265900

PMCID:: PMC3872769

Abstract Article PDF–683K

Select item 332286212.

High-capacity Ca²⁺ Binding of Human Skeletal Calsequestrin

Emiliano J. Sanchez, Kevin M. Lewis, Benjamin R. Danna, ChulHee Kang

J Biol Chem. 2012 Mar 30; 287(14): 11592–11601. Published online 2012 Feb 15. doi: 10.1074/jbc.M111.335075

PMCID:: PMC3322862

Abstract Article PDF–6.5M

Select item 327952213.

Common Variants in 40 Genes Assessed for Diabetes Incidence and Response to Metformin and Lifestyle Intervention in the Diabetes Prevention Program

Kathleen A. Jablonski, Jarred B. McAteer, Paul I.W. de Bakker, Paul W. Franks, Toni I. Pollin, Robert L. Hanson, Richa Saxena, Sarah Fowler, Alan R. Shuldiner, William C. Knowler, David Altshuler, Jose C. Florez, for the Diabetes Prevention Program Research Group

Diabetes. 2010 Oct; 59(10): 2672–2681. Published online 2010 Aug 3. doi: 10.2337/db10-0543

PMCID:: PMC3279522

Abstract Article PDF–108K

Select item 317805914.

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

Abstract Article PDF–1.0M

Select item 301344215.

Phosphoproteome Analysis of Functional Mitochondria Isolated from Resting Human Muscle Reveals Extensive Phosphorylation of Inner Membrane Protein Complexes and Enzymes

Xiaolu Zhao, Ileana R. León, Steffen Bak, Martin Mogensen, Krzysztof Wrzesinski, Kurt Højlund, Ole Nørregaard Jensen

Mol Cell Proteomics. 2011 Jan; 10(1): M110.000299. Published online 2010 Sep 10. doi: 10.1074/mcp.M110.000299

PMCID:: PMC3013442

Abstract Article PDF–310K

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 52892817.

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

Select item 13924118.

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

Abstract Article PDF–118K

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