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Select item 112036851.

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy

Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Sara Gibertini, Lorenzo Maggi, Francesco Fortunato, Andrea Rigamonti, Dario Ronchi, Giacomo Pietro Comi, Stefania Corti, Monica Sciacco

Int J Mol Sci. 2024 Jun; 25(12): 6547. Published online 2024 Jun 14. doi: 10.3390/ijms25126547

PMCID:: PMC11203685

Abstract Article PDF–2.6M

Select item 98230122.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian

Eur J Hum Genet. 2023 Jan; 31(1): 97–104. Published online 2022 Oct 17. doi: 10.1038/s41431-022-01204-9

PMCID:: PMC9823012

Abstract Article PDF–2.2M

Select item 73578453.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin

Norman R. Watts, Xiaolei Zhuang, Joshua D. Kaufman, Ira W. Palmer, Altaira D. Dearborn, Stephen Coscia, Yotam Blech-Hermoni, Caterina Alfano, Annalisa Pastore, Ami Mankodi, Paul T. Wingfield

Biochemistry. Author manuscript; available in PMC 2020 Jul 13.

Published in final edited form as: Biochemistry. 2017 Apr 11; 56(14): 2061–2070. Published online 2017 Apr 3. doi: 10.1021/acs.biochem.7b00067

PMCID:: PMC7357845

Abstract Article PDF–2.0M

Select item 67003534.

Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy

Dong-fei Wang, Jia-lan Lyu, Juan Fang, Jian Chen, Wan-wan Chen, Jia-qi Huang, Shu-dong Xia, Jian-mei Jin, Fang-hong Dong, Hong-qiang Cheng, Ying-ke Xu, Xiao-gang Guo

J Zhejiang Univ Sci B. 2019 Sep; 20(9): 766–775. doi: 10.1631/jzus.B1900017

PMCID:: PMC6700353

Abstract Article PDF–660K

Select item 64493885.

Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors

Ulrich Gergs, Winnie Mangold, Frank Langguth, Mechthild Hatzfeld, Steffen Hauptmann, Hasan Bushnaq, Andreas Simm, Rolf-Edgar Silber, Joachim Neumann

Sci Rep. 2019; 9: 5610. Published online 2019 Apr 4. doi: 10.1038/s41598-019-42141-w

PMCID:: PMC6449388

Abstract Article PDF–1.8M

Select item 43310256.

Loss-of-Function of hNa_v1.5 by ZASP1-D117N Associated with Intraventricular Conduction Disturbances in Left Ventricular Noncompaction

Yutao Xi, Tomohiko Ai, Enno De Lange, Zhaohui Li, Geru Wu, Luca Brunelli, W. Buck Kyle, Isik Turker, Jie Cheng, Michael J. Ackerman, Akinori Kimura, James N. Weiss, Zhilin Qu, Jeffrey J. Kim, Georgine Faulkner, Matteo Vatta

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2015 Feb 17.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2012 Oct; 5(5): 1017–1026. Published online 2012 Aug 28. doi: 10.1161/CIRCEP.111.969220

PMCID:: PMC4331025

Abstract Article PDF–760K

Select item 35760937.

Z-band Alternatively Spliced PDZ Motif Protein (ZASP) Is the Major O-Linked β-N-Acetylglucosamine-substituted Protein in Human Heart Myofibrils

Man-Ching Leung, Paul G. Hitchen, Douglas G. Ward, Andrew E. Messer, Steven B. Marston

J Biol Chem. 2013 Feb 15; 288(7): 4891–4898. Published online 2012 Dec 27. doi: 10.1074/jbc.M112.410316

PMCID:: PMC3576093

Abstract Article PDF–2.2M

Select item 5075618.

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

K R Bowles, R Gajarski, P Porter, V Goytia, L Bachinski, R Roberts, R Pignatelli, J A Towbin

J Clin Invest. 1996 Sep 15; 98(6): 1355–1360. doi: 10.1172/JCI118922

PMCID:: PMC507561

Summary PDF–160K

Select item 49300989.

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias

Aviva Levitas, Yuval Konstantino, Emad Muhammad, Zaid Afawi, Jean Marc Weinstein, Guy Amit, Yoram Etzion, Ruti Parvari

Eur J Hum Genet. 2016 May; 24(5): 666–671. Published online 2015 Sep 30. doi: 10.1038/ejhg.2015.195

PMCID:: PMC4930098

Abstract Article PDF–513K

Select item 419932710.

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

Abstract Article PDF–977K

Select item 403636611.

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D. Kaufman, Paul T. Wingfield, Robert C. Griggs, Kenneth H. Fischbeck, Ami Mankodi

J Biol Chem. 2014 May 9; 289(19): 13615–13626. Published online 2014 Mar 25. doi: 10.1074/jbc.M114.550418

PMCID:: PMC4036366

Abstract Article PDF–5.2M

Select item 379524112.

Cypher/ZASP Is a Novel A-kinase Anchoring Protein

Changsong Lin, Xiaogang Guo, Stephan Lange, Jie Liu, Kunfu Ouyang, Xiang Yin, Liujun Jiang, Yibo Cai, Yongxin Mu, Farah Sheikh, Sheng Ye, Ju Chen, Yuehai Ke, Hongqiang Cheng

J Biol Chem. 2013 Oct 11; 288(41): 29403–29413. Published online 2013 Aug 31. doi: 10.1074/jbc.M113.470708

PMCID:: PMC3795241

Abstract Article PDF–3.4M

Select item 286620013.

Common susceptibility variants examined for association with dilated cardiomyopathy

Evadnie Rampersaud, Daniel D. Kinnamon, Kara Hamilton, Sawsan Khuri, Ray E. Hershberger, Eden R. Martin

Ann Hum Genet. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Ann Hum Genet. 2010 Mar; 74(2): 110–116. Published online 2010 Feb 18. doi: 10.1111/j.1469-1809.2010.00566.x

PMCID:: PMC2866200

Abstract Article PDF–438K

Select item 320657014.

Zasp: A New Z-Band Alternatively Spliced PDZ-Motif Protein

Georgine Faulkner, Alberto Pallavicini, Elide Formentin, Anna Comelli, Chiara Ievolella, Silvia Trevisan, Gladis Bortoletto, Paolo Scannapieco, Michela Salamon, Vincent Mouly, Giorgio Valle, Gerolamo Lanfranchi

J Cell Biol. 1999 Jul 26; 146(2): 465–476. doi: 10.1083/jcb.146.2.465

PMCID:: PMC3206570

Abstract Article PDF–629K

Select item 285894315.

Candidate-gene testing for orphan limb-girdle muscular dystrophies

S Aurino, G Piluso, V Saccone, M Cacciottolo, F D’Amico, M Dionisi, A Totaro, A Belsito, U Di Vicino, V Nigro

Acta Myol. 2008 Dec; 27(3): 90–97.

PMCID:: PMC2858943

Abstract Article PDF–243K

Select item 391256016.

Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

J. Martijn Bos, Jeanne L. Theis, A. Jamil Tajik, Bernard J. Gersh, Steve R. Ommen, Michael J. Ackerman

Am Heart J. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: Am Heart J. 2008 Jun; 155(6): 1128–1134. Published online 2008 Feb 21. doi: 10.1016/j.ahj.2008.01.005

PMCID:: PMC3912560

Abstract Article PDF–532K

Select item 301874617.

A novel custom resequencing array for dilated cardiomyopathy

Rebekah S. Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison Cirino, Debora Mancini-DiNardo, Eugene Clark, Annette Leon, Elizabeth Duffy, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke

Genet Med. Author manuscript; available in PMC 2011 Jan 11.

Published in final edited form as: Genet Med. 2010 May; 12(5): 268–278. doi: 10.1097/GIM.0b013e3181d6f7c0

PMCID:: PMC3018746

Abstract Article PDF–100K

Select item 138022518.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Abstract Article PDF–329K

Select item 488219019.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 31094820.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

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