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Select item 42077521.

Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Surinder M. Singh, Swati Bandi, Dinen D. Shah, Geoffrey Armstrong, Krishna M. G. Mallela

PLoS One. 2014; 9(10): e110439. Published online 2014 Oct 23. doi: 10.1371/journal.pone.0110439

PMCID:: PMC4207752

Abstract Article PDF–1.1M

Select item 41458722.

The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations

Adeline Vulin, Nicolas Wein, Dana M. Strandjord, Eric K. Johnson, Andrew R. Findlay, Baijayanta Maiti, Michael T. Howard, Yuuki J. Kaminoh, Laura E. Taylor, Tabatha R. Simmons, Will C. Ray, Federica Montanaro, Jim M. Ervasti, Kevin M. Flanigan

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

Published in final edited form as: Hum Mutat. 2014 Feb; 35(2): 257–264. Published online 2013 Dec 2. doi: 10.1002/humu.22479

PMCID:: PMC4145872

Abstract Article PDF–965K

Select item 30618903.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Francesca Magri, Roberto Del Bo, Maria G D'Angelo, Alessandra Govoni, Serena Ghezzi, Sandra Gandossini, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni, Silvana Tedeschi, Francesco Fortunato, Valeria Lucchini, Matteo Cereda, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi

BMC Med Genet. 2011; 12: 37. Published online 2011 Mar 11. doi: 10.1186/1471-2350-12-37

PMCID:: PMC3061890

Abstract Article PDF–1.1M

Select item 30395704.

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 26652865.

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 25048356.

A quantitative atlas of mitotic phosphorylation

Noah Dephoure, Chunshui Zhou, Judit Villén, Sean A. Beausoleil, Corey E. Bakalarski, Stephen J. Elledge, Steven P. Gygi

Proc Natl Acad Sci U S A. 2008 Aug 5; 105(31): 10762–10767. Published online 2008 Jul 31. doi: 10.1073/pnas.0805139105

PMCID:: PMC2504835

Abstract Article PDF–1.0M

Select item 21203437.

Syntrophin binds to an alternatively spliced exon of dystrophin

J Cell Biol. 1995 Feb 1; 128(3): 363–371. doi: 10.1083/jcb.128.3.363

PMCID:: PMC2120343

Summary PDF–1.4M

Select item 11963378.

Specific Interaction of the Actin-binding Domain of Dystrophin with Intermediate Filaments Containing Keratin 19

Michele R. Stone, Andrea O'Neill, Dawn Catino, Robert J. Bloch

Mol Biol Cell. 2005 Sep; 16(9): 4280–4293. doi: 10.1091/mbc.E05-02-0112

PMCID:: PMC1196337

Abstract Article PDF–942K

Select item 11803559.

Rapid Direct Sequence Analysis of the Dystrophin Gene

Kevin M. Flanigan, Andrew von Niederhausern, Diane M. Dunn, Jonathan Alder, Jerry R. Mendell, Robert B. Weiss

Am J Hum Genet. 2003 Apr; 72(4): 931–939. Published online 2003 Mar 11. doi: 10.1086/374176

PMCID:: PMC1180355

Abstract Article PDF–287K

Select item 55378010.

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.

G S Cross, A Speer, A Rosenthal, S M Forrest, T J Smith, Y Edwards, T Flint, D Hill, K E Davies

EMBO J. 1987 Nov; 6(11): 3277–3283. doi: 10.1002/j.1460-2075.1987.tb02646.x

PMCID:: PMC553780

Summary Page Browse PDF–1.3M

Select item 52892811.

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 33900112.

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

J S Chamberlain, R A Gibbs, J E Ranier, P N Nguyen, C T Caskey

Nucleic Acids Res. 1988 Dec 9; 16(23): 11141–11156. doi: 10.1093/nar/16.23.11141

PMCID:: PMC339001

Summary Page Browse PDF–1.6M

Select item 31818313.

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

L A Blonden, J T den Dunnen, H M van Paassen, M C Wapenaar, P M Grootscholten, H B Ginjaar, E Bakker, P L Pearson, G J van Ommen

Nucleic Acids Res. 1989 Jul 25; 17(14): 5611–5621. doi: 10.1093/nar/17.14.5611

PMCID:: PMC318183

Summary Page Browse PDF–1.3M

Select item 31813014.

Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.

A Rosenthal, A Speer, H Billwitz, G S Cross, S M Forrest, K E Davies

Nucleic Acids Res. 1989 Jul 11; 17(13): 5391. doi: 10.1093/nar/17.13.5391

PMCID:: PMC318130

Summary Page Browse PDF–88K

Select item 4928815.

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

D Lederfein, Z Levy, N Augier, D Mornet, G Morris, O Fuchs, D Yaffe, U Nudel

Proc Natl Acad Sci U S A. 1992 Jun 15; 89(12): 5346–5350. doi: 10.1073/pnas.89.12.5346

PMCID:: PMC49288

Summary Page Browse PDF–1016K

Select item 701691616.

Tissue-Specificity of Dystrophin–Actin Interactions: Isoform-Specific Thermodynamic Stability and Actin-Binding Function of Tandem Calponin-Homology Domains

Vaibhav Upadhyay, Swati Bandi, Sudipta Panja, Laura Saba, Krishna M. G. Mallela

ACS Omega. 2020 Feb 11; 5(5): 2159–2168. Published online 2020 Jan 10. doi: 10.1021/acsomega.9b02911

PMCID:: PMC7016916

Abstract Article PDF–2.4M

Select item 666309717.

Altered blood proteome in girls with high urine concentrations of bisphenol a, genistein, mono-ethyl hexylphthalate and mono-benzyl phthalate

Jun Wang, Angela Betancourt, Sarah Jenkins, Frank Biro, Susan M Pinney, Dongquan Chen, Jose Russo, Coral A Lamartiniere

MOJ Proteom Bioinform. Author manuscript; available in PMC 2019 Jul 29.

Published in final edited form as: MOJ Proteom Bioinform. 2015; 2(2): 44–57. Published online 2015 Mar 10. doi: 10.15406/mojpb.2015.02.00040

PMCID:: PMC6663097

Abstract Article PDF–481K

Select item 662019218.

The difference in serum proteomes in schizophrenia and bipolar disorder

Liudmila Smirnova, Alexander Seregin, Irina Boksha, Elena Dmitrieva, German Simutkin, Elena Kornetova, Olga Savushkina, Anastasia Letova, Nikolay Bokhan, Svetlana Ivanova, Victor Zgoda

BMC Genomics. 2019; 20(Suppl 7): 535. Published online 2019 Jul 11. doi: 10.1186/s12864-019-5848-1

PMCID:: PMC6620192

Abstract Article PDF–788K

Select item 632207319.

Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD

Simon Guiraud, Benjamin Edwards, Sarah E Squire, Lee Moir, Adam Berg, Arran Babbs, Nesrine Ramadan, Matthew J Wood, Kay E Davies

Hum Mol Genet. 2019 Jan 15; 28(2): 307–319. Published online 2018 Oct 9. doi: 10.1093/hmg/ddy353

PMCID:: PMC6322073

Abstract Article PDF–27M

Select item 619569020.

New insights into meningitic Escherichia coli infection of brain microvascular endothelial cells from quantitative proteomics analysis

Wen-Tong Liu, Yu-Jin Lv, Rui-Cheng Yang, Ji-Yang Fu, Lu Liu, Huan Wang, Qi Cao, Chen Tan, Huan-Chun Chen, Xiang-Ru Wang

J Neuroinflammation. 2018; 15: 291. Published online 2018 Oct 19. doi: 10.1186/s12974-018-1325-z

PMCID:: PMC6195690

Abstract Article PDF–3.6M

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