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Select item 86493461.

The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3

Jinfang Lu, Huanzheng Li, He Zhang, Zhengxiu Lin, Chenyang Xu, Xueqin Xu, Lin Hu, Zhaotang Luan, Yongliang Lou, Shaohua Tang

J Clin Lab Anal. 2021 Dec; 35(12): e24089. Published online 2021 Nov 11. doi: 10.1002/jcla.24089

PMCID:: PMC8649346

Article PDF–1005K

Select item 24473092.

Structure and Sequence of the Human Fast Skeletal Troponin T (TNNT3) Gene: Insight Into the Evolution of the Gene and the Origin of the Developmentally Regulated Isoforms

Raymund Stefancsik, Jeffrey D. Randall, Chengjian Mao, Satyapriya Sarkar

Comp Funct Genomics. 2003 Dec; 4(6): 609–625. doi: 10.1002/cfg.343

PMCID:: PMC2447309

Summary PDF–628K

Select item 17124033.

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

P A Krakowiak, J R O'Quinn, J F Bohnsack, W S Watkins, J C Carey, L B Jorde, M Bamshad

Am J Hum Genet. 1997 Feb; 60(2): 426–432.

PMCID:: PMC1712403

Summary Page Browse PDF–1.7M

Select item 59941794.

Troponin T3 Associates with DNA Consensus Sequence that Overlaps with p53 Binding Motifs

Yury O. Nunez Lopez, Maria Laura Messi, Richard E. Pratley, Tan Zhang, Osvaldo Delbono

Exp Gerontol. Author manuscript; available in PMC 2019 Jul 15.

Published in final edited form as: Exp Gerontol. 2018 Jul 15; 108: 35–40. Published online 2018 Mar 27. doi: 10.1016/j.exger.2018.03.012

PMCID:: PMC5994179

Article PDF–587K

Select item 41993275.

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Anna Vihola, Linda L. Bachinski, Mario Sirito, Shodimu-Emmanuel Olufemi, Shohrae Hajibashi, Keith A. Baggerly, Olayinka Raheem, Hannu Haapasalo, Tiina Suominen, Jeanette Holmlund-Hampf, Anders Paetau, Rosanna Cardani, Giovanni Meola, Hannu Kalimo, Lars Edström, Ralf Krahe, Bjarne Udd

Acta Neuropathol. Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Acta Neuropathol. 2010 Apr; 119(4): 465–479. Published online 2010 Jan 12. doi: 10.1007/s00401-010-0637-6

PMCID:: PMC4199327

Article PDF–977K

Select item 11805836.

Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B

Sandy S. Sung, Anna-Marie E. Brassington, Patrycja A. Krakowiak, John C. Carey, Lynn B. Jorde, Michael Bamshad

Am J Hum Genet. 2003 Jul; 73(1): 212–214. doi: 10.1086/376418

PMCID:: PMC1180583

Article PDF–231K

Select item 53256937.

TNNT1, TNNT2, and TNNT3: Isoform Genes, Regulation, and Structure-Function Relationships

Bin Wei, J.-P. Jin

Gene. Author manuscript; available in PMC 2017 May 10.

Published in final edited form as: Gene. 2016 May 10; 582(1): 1–13. Published online 2016 Jan 13. doi: 10.1016/j.gene.2016.01.006

PMCID:: PMC5325693

Article PDF–1.1M

Select item 26644268.

Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot

Christina A. Gurnett, Farhang Alaee, David Desruisseau, Stephanie Boehm, Matthew B. Dobbs

Clin Orthop Relat Res. 2009 May; 467(5): 1195–1200. Published online 2009 Jan 14. doi: 10.1007/s11999-008-0694-5

PMCID:: PMC2664426

Article PDF–283K

Select item 43208069.

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

Sara Lindström, Deborah J. Thompson, Andrew D. Paterson, Jingmei Li, Gretchen L. Gierach, Christopher Scott, Jennifer Stone, Julie A. Douglas, Isabel dos-Santos-Silva, Pablo Fernandez-Navarro, Jajini Verghase, Paula Smith, Judith Brown, Robert Luben, Nicholas J. Wareham, Ruth J.F. Loos, John A. Heit, V. Shane Pankratz, Aaron Norman, Ellen L. Goode, Julie M. Cunningham, Mariza deAndrade, Robert A. Vierkant, Kamila Czene, Peter A. Fasching, Laura Baglietto, Melissa C. Southey, Graham G. Giles, Kaanan P. Shah, Heang-Ping Chan, Mark A. Helvie, Andrew H. Beck, Nicholas W. Knoblauch, Aditi Hazra, David J. Hunter, Peter Kraft, Marina Pollan, Jonine D. Figueroa, Fergus J. Couch, John L. Hopper, Per Hall, Douglas F. Easton, Norman F. Boyd, Celine M. Vachon, Rulla M. Tamimi

Nat Commun. Author manuscript; available in PMC 2015 Apr 24.

Published in final edited form as: Nat Commun. 2014; 5: 5303. Published online 2014 Oct 24. doi: 10.1038/ncomms6303

Correction in:: Nat Commun. 2015; 6: 8358.

PMCID:: PMC4320806

Article PDF–271K

Select item 363283610.

Genome-wide association study identifies five new breast cancer susceptibility loci

Clare Turnbull, Shahana Ahmed, Jonathan Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D Gareth Evans, The Breast Cancer Susceptibility Collaboration (UK), Maartje Hooning, Mieke Schutte, Ans van den Ouweland, Richard Houlston, Gillian Ross, Cordelia Langford, Paul D P Pharoah, Michael R Stratton, Alison M Dunning, Nazneen Rahman, Douglas F Easton

Nat Genet. Author manuscript; available in PMC 2013 Apr 23.

Published in final edited form as: Nat Genet. 2010 Jun; 42(6): 504–507. Published online 2010 May 9. doi: 10.1038/ng.586

PMCID:: PMC3632836

Article PDF–454K

Select item 373228611.

A Possible Mechanism behind Autoimmune Disorders Discovered By Genome-Wide Linkage and Association Analysis in Celiac Disease

Malin Östensson, Caroline Montén, Jonas Bacelis, Audur H. Gudjonsdottir, Svetlana Adamovic, Johan Ek, Henry Ascher, Elisabet Pollak, Henrik Arnell, Lars Browaldh, Daniel Agardh, Jan Wahlström, Staffan Nilsson, Åsa Torinsson-Naluai

PLoS One. 2013; 8(8): e70174. Published online 2013 Aug 2. doi: 10.1371/journal.pone.0070174

PMCID:: PMC3732286

Article PDF–1.7M

Select item 600841012.

Agrin has a pathological role in the progression of oral cancer

César Rivera, Flávia Silva Zandonadi, Celeste Sánchez-Romero, Ciro Dantas Soares, Daniela Campos Granato, Wilfredo Alejandro González-Arriagada, Adriana Franco Paes Leme

Br J Cancer. 2018 Jun 12; 118(12): 1628–1638. Published online 2018 Jun 6. doi: 10.1038/s41416-018-0135-5

PMCID:: PMC6008410

Article PDF–2.6M

Select item 692775413.

Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC

Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong

eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223

PMCID:: PMC6927754

Article PDF–5.1M

Select item 290133614.

Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia

Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray

PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493

PMCID:: PMC2901336

Article PDF–778K

Select item 361021415.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard

Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3

PMCID:: PMC3610214

Article PDF–1.7M

Select item 294516816.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Article PDF–153K

Select item 277583217.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Article PDF–2.8M

Select item 616668218.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Article PDF–3.8M

Select item 135612919.

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

Article PDF–438K

Select item 461721120.

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

Article PDF–2.2M

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