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Select item 69950421.

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

BMC Med Genet. 2020; 21: 19. Published online 2020 Jan 31. doi: 10.1186/s12881-020-0955-z

PMCID:: PMC6995042

Abstract Article PDF–960K

Select item 28966282.

Identification and characterization of DSPIa, a novel isoform of human desmoplakin

Rita M. Cabral, Hong Wan, Clare L. Cole, Dominic J. Abrams, David P. Kelsell, Andrew P. South

Cell Tissue Res. 2010; 341(1): 121–129. Published online 2010 Jun 4. doi: 10.1007/s00441-010-0989-1

PMCID:: PMC2896628

Abstract Article PDF–418K

Select item 482753.

Molecular structure of the human desmoplakin I and II amino terminus.

M L Virata, R M Wagner, D A Parry, K J Green

Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2): 544–548. doi: 10.1073/pnas.89.2.544

PMCID:: PMC48275

Summary Page Browse PDF–1.1M

Select item 68180984.

Dysregulated protease activated receptor 1 (PAR1) promotes metastatic phenotype in breast cancer through HMGA2

E Yang, J Cisowski, N Nguyen, K O’Callaghan, J Xu, A Agarwal, A Kuliopulos, L Covic

Oncogene. Author manuscript; available in PMC 2019 Oct 29.

Published in final edited form as: Oncogene. 2016 Mar 24; 35(12): 1529–1540. Published online 2015 Jul 13. doi: 10.1038/onc.2015.217

PMCID:: PMC6818098

Abstract Article

Select item 61378785.

Secondary findings in 421 whole exome-sequenced Chinese children

Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu, Zhou Zhou

Hum Genomics. 2018; 12: 42. Published online 2018 Sep 14. doi: 10.1186/s40246-018-0174-2

PMCID:: PMC6137878

Abstract Article PDF–409K

Select item 61173136.

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

Charlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, William John McKenna, Petros Syrris, Marta Futema

Eur J Hum Genet. 2018 Sep; 26(9): 1312–1318. Published online 2018 May 25. doi: 10.1038/s41431-018-0169-4

PMCID:: PMC6117313

Abstract Article PDF–625K

Select item 58475177.

Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L. Clyde, Matteo Vatta

Sci Rep. 2018; 8: 4350. Published online 2018 Mar 12. doi: 10.1038/s41598-018-22334-5

PMCID:: PMC5847517

Abstract Article PDF–1.7M

Select item 55314688.

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842

PMCID:: PMC5531468

Abstract Article PDF–1.7M

Select item 53649659.

Notch signaling is significantly suppressed in basal cell carcinomas and activation induces basal cell carcinoma cell apoptosis

Feng-Tao Shi, Mei Yu, David Zloty, Robert H. Bell, Eddy Wang, Noushin Akhoundsadegh, Gigi Leung, Anne Haegert, Nicholas Carr, Jerry Shapiro, Kevin J. McElwee

Mol Med Rep. 2017 Apr; 15(4): 1441–1454. Published online 2017 Feb 2. doi: 10.3892/mmr.2017.6163

PMCID:: PMC5364965

Abstract Article PDF–1.3M

Select item 503508410.

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto

PLoS One. 2016; 11(9): e0163362. Published online 2016 Sep 23. doi: 10.1371/journal.pone.0163362

PMCID:: PMC5035084

Abstract Article PDF–1.4M

Select item 502149211.

Comparison of Stemness and Gene Expression between Gingiva and Dental Follicles in Children

Chung-Min Kang, Seong-Oh Kim, Mijeong Jeon, Hyung-Jun Choi, Han-Sung Jung, Jae-Ho Lee

Stem Cells Int. 2016; 2016: 8596520. Published online 2016 Aug 30. doi: 10.1155/2016/8596520

PMCID:: PMC5021492

Abstract Article PDF–3.4M

Select item 490544012.

Identification of long non-coding RNAs as novel biomarker and potential therapeutic target for atrial fibrillation in old adults

Yingjia Xu, Ritai Huang, Jianing Gu, Weifeng Jiang

Oncotarget. 2016 Mar 8; 7(10): 10803–10811. Published online 2016 Feb 18. doi: 10.18632/oncotarget.7514

PMCID:: PMC4905440

Abstract Article PDF–2.9M

Select item 452177913.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada

PLoS One. 2015; 10(7): e0133037. Published online 2015 Jul 31. doi: 10.1371/journal.pone.0133037