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Select item 48385351.

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder with Skeletal Muscle Hypertrophy and Premature Cardiac Death

Yuan Xue, Benedikt Schoser, Aliz R. Rao, Roberto Quadrelli, Alicia Vaglio, Verena Rupp, Christine Beichler, Stanley F. Nelson, Gudrun Schapacher-Tilp, Christian Windpassinger, William R. Wilcox

Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2016 Apr; 9(2): 130–135. Published online 2016 Mar 1. doi: 10.1161/CIRCGENETICS.115.001193

PMCID:: PMC4838535

Abstract Article PDF–706K

Select item 42590102.

Uncovering Global SUMOylation Signaling Networks in a Site-Specific Manner

Ivo A. Hendriks, Rochelle C.J. D’Souza, Bing Yang, Matty Verlaan-de Vries, Matthias Mann, Alfred C.O. Vertegaal

Nat Struct Mol Biol. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Nat Struct Mol Biol. 2014 Oct; 21(10): 927–936. Published online 2014 Sep 14. doi: 10.1038/nsmb.2890

PMCID:: PMC4259010

Abstract Article PDF–2.9M

Select item 30395703.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Abstract Article PDF–2.3M

Select item 27715954.

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, Anne T. Bertrand, Jean-Philippe Jais, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacene, Norma B. Romero, Simon Heath, Diana Zelenika, Thomas Voit, Bruno Eymard, Rabah Ben Yaou, Gisèle Bonne

Am J Hum Genet. 2009 Sep 11; 85(3): 338–353. doi: 10.1016/j.ajhg.2009.07.015

PMCID:: PMC2771595

Abstract Article PDF–1.0M

Select item 27249205.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Joachim Schessl, Ana L. Taratuto, Caroline Sewry, Roberta Battini, Steven S. Chin, Baijayanta Maiti, Alberto L. Dubrovsky, Marcela G. Erro, Graciela Espada, Monica Robertella, Maria Saccoliti, Patricia Olmos, Leslie R. Bridges, Peter Standring, Ying Hu, Yaqun Zou, Kathryn J. Swoboda, Mena Scavina, Hans-Hilmar Goebel, Christina A. Mitchell, Kevin M. Flanigan, Francesco Muntoni, Carsten G. Bönnemann

Brain. 2009 Feb; 132(2): 452–464. Published online 2008 Jan 29. doi: 10.1093/brain/awn325

PMCID:: PMC2724920

Abstract Article PDF–1.0M

Select item 26652866.

The DNA sequence of the human X chromosome

Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley

Nature. Author manuscript; available in PMC 2009 Apr 5.

Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440

PMCID:: PMC2665286

Abstract Article PDF–1.0M

Select item 22539867.

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagner, Hanns Lochmüller, John B. Vincent, Stefan Quasthoff

Am J Hum Genet. 2008 Jan 10; 82(1): 88–99. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.004

PMCID:: PMC2253986

Abstract Article PDF–1.2M

Select item 22539638.

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

Catarina M. Quinzii, Tuan H. Vu, K. Christopher Min, Kurenai Tanji, Sandra Barral, Raji P. Grewal, Andrea Kattah, Pilir Camaño, David Otaegui, Teruhito Kunimatsu, David M. Blake, Kirk C. Wilhelmsen, Lewis P. Rowland, Arthur P. Hays, Eduardo Bonilla, Michio Hirano

Am J Hum Genet. 2008 Jan 10; 82(1): 208–213. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.013

PMCID:: PMC2253963

Abstract Article PDF–542K

Select item 5289289.

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 702242010.

Naturally Produced Lovastatin Modifies the Histology and Proteome Profile of Goat Skeletal Muscle

Teik Kee Leo, Sani Garba, Danmaigoro Abubakar, Awis Qurni Sazili, Su Chui Len Candyrine, Mohammad Faseleh Jahromi, Yong Meng Goh, Ron Ronimus, Stefan Muetzel, Juan Boo Liang

Animals (Basel) 2020 Jan; 10(1): 72. Published online 2019 Dec 31. doi: 10.3390/ani10010072

PMCID:: PMC7022420

Abstract Article PDF–4.6M

Select item 701105411.

Gallbladder cancer integrated bioinformatics analysis of protein profile data

Mohammad Reza Zali, Mona Zamanian Azodi, Zahra Razzaghi, Mohammad Hossain Heydari

Gastroenterol Hepatol Bed Bench. 2019; 12(Suppl1): S66–S73.

PMCID:: PMC7011054

Abstract Article PDF–426K

Select item 700569812.

Proteomic profiling and identification of significant markers from high-grade osteosarcoma after cryotherapy and irradiation

Rashmi Madda, Chao-Ming Chen, Jir-You Wang, Cheng-Fong Chen, Kuang-Yu Chao, Yu-Min Yang, Hsin-Yi Wu, Wei-Ming Chen, Po-Kuei Wu

Sci Rep. 2020; 10: 2105. Published online 2020 Feb 7. doi: 10.1038/s41598-019-56024-7

PMCID:: PMC7005698

Abstract Article PDF–2.7M

Select item 695827113.

Quantitative proteomic study of mitoxantrone-resistant NCI-H460 cell-xenograft tumors

Li Su, Shuang Cui, Hongying Zhen, Jiao Liu

Int J Clin Exp Pathol. 2018; 11(5): 2377–2388. Published online 2018 May 1.

PMCID:: PMC6958271

Abstract Article PDF–1.2M

Select item 644993114.

Identification of prothymosin alpha (PTMA) as a biomarker for esophageal squamous cell carcinoma (ESCC) by label-free quantitative proteomics and Quantitative Dot Blot (QDB)

Yanping Zhu, Xiaoying Qi, Cuicui Yu, Shoujun Yu, Chao Zhang, Yuan Zhang, Xiuxiu Liu, Yuxue Xu, Chunhua Yang, Wenguo Jiang, Geng Tian, Xuri Li, Jonas Bergquist, Jiandi Zhang, Lei Wang, Jia Mi

Clin Proteomics. 2019; 16: 12. Published online 2019 Apr 5. doi: 10.1186/s12014-019-9232-6

PMCID:: PMC6449931

Abstract Article PDF–5.2M

Select item 616251915.

Transient Receptor Potential Channel A1 (TRPA1) Regulates Sulfur Mustard-Induced Expression of Heat Shock 70 kDa Protein 6 (HSPA6) In Vitro

Robin Lüling, Harald John, Thomas Gudermann, Horst Thiermann, Harald Mückter, Tanja Popp, Dirk Steinritz

Cells. 2018 Sep; 7(9): 126. Published online 2018 Aug 31. doi: 10.3390/cells7090126

PMCID:: PMC6162519

Abstract Article PDF–1.7M

Select item 610293316.

iTRAQ-based analysis of sperm proteome from normozoospermic men achieving the rescue-ICSI pregnancy after the IVF failure

Xin Liu, Gensheng Liu, Juan Liu, Peng Zhu, Jiahui Wang, Yanwei Wang, Wenting Wang, Ning Li, Xuebo Wang, Chenglin Zhang, Xiaofang Shen, Fujun Liu

Clin Proteomics. 2018; 15: 27. Published online 2018 Aug 21. doi: 10.1186/s12014-018-9203-3

PMCID:: PMC6102933

Abstract Article PDF–7.3M

Select item 608553417.

Iron Inhibits the Secretion of Apolipoprotein E in Cultured Human Adipocytes

L.J. Britton, Kim Bridle, Lesley-Anne Jaskowski, Jingjing He, Choaping Ng, Jayde E. Ruelcke, Ahmed Mohamed, Janske Reiling, Nishreen Santrampurwala, Michelle M. Hill, Jonathan P. Whitehead, V. Nathan Subramaniam, Darrell H.G. Crawford

Cell Mol Gastroenterol Hepatol. 2018; 6(2): 215–217.e8. Published online 2018 Apr 16. doi: 10.1016/j.jcmgh.2018.04.005

PMCID:: PMC6085534

Article PDF–914K

Select item 598315418.

Effect of resistance training and protein intake pattern on myofibrillar protein synthesis and proteome kinetics in older men in energy restriction

Caoileann H. Murphy, Mahalakshmi Shankaran, Tyler A. Churchward‐Venne, Cameron J. Mitchell, Nathan M. Kolar, Louise M. Burke, John A. Hawley, Amira Kassis, Leonidas G. Karagounis, Kelvin Li, Chelsea King, Marc Hellerstein, Stuart M. Phillips

J Physiol. 2018 Jun 1; 596(11): 2091–2120. Published online 2018 Apr 17. doi: 10.1113/JP275246

PMCID:: PMC5983154

Abstract Article PDF–953K

Select item 574120119.

Proteomic Analysis of Human Adipose Derived Stem Cells during Small Molecule Chemical Stimulated Pre-neuronal Differentiation

Jerran Santos, Bruce K Milthorpe, Benjamin R Herbert, Matthew P Padula

Int J Stem Cells. 2017 Nov; 10(2): 193–217. doi: 10.15283/ijsc17036

PMCID:: PMC5741201

Abstract Article PDF–2.0M

Select item 568809820.

Proteotoxicity in cardiac amyloidosis: amyloidogenic light chains affect the levels of intracellular proteins in human heart cells

Esther Imperlini, Massimiliano Gnecchi, Paola Rognoni, Eduard Sabidò, Maria Chiara Ciuffreda, Giovanni Palladini, Guadalupe Espadas, Francesco Mattia Mancuso, Margherita Bozzola, Giuseppe Malpasso, Veronica Valentini, Giuseppina Palladini, Stefania Orrù, Giovanni Ferraro, Paolo Milani, Stefano Perlini, Francesco Salvatore, Giampaolo Merlini, Francesca Lavatelli

Sci Rep. 2017; 7: 15661. Published online 2017 Nov 15. doi: 10.1038/s41598-017-15424-3

PMCID:: PMC5688098

Abstract Article PDF–3.4M

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