PMC Links for Protein (Select 148664226) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 62802872.

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients

Luize Bidina, Kaspars Kupics, Emma Sokolova, Mihails Pavlovics, Zane Dobele, Laima Caunite, Oskars Kalejs, Linda Gailite

Anatol J Cardiol. 2018 Nov; 20(5): 296–302. Published online 2018 Oct 26. doi: 10.14744/AnatolJCardiol.2018.35984

PMCID:: PMC6280287

Abstract Article PDF–101K

Select item 60340223.

Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation

Muzaffar Ali, Imtiyaz A. Bhat, Imran Hafeez, Mohd Iqbal Dar, Jahangir Rashid Beig, Zafar Amin Shah, Khurshid Iqbal

Indian Heart J. 2018 May-Jun; 70(3): 421–426. Published online 2017 Oct 20. doi: 10.1016/j.ihj.2017.10.010

PMCID:: PMC6034022

Abstract Article PDF–2.2M

Select item 21333944.

Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque

J Cell Biol. 1996 Nov 2; 135(4): 1009–1025. doi: 10.1083/jcb.135.4.1009

PMCID:: PMC2133394

Summary PDF–9.3M

Select item 57230715.

Exploring digenic inheritance in arrhythmogenic cardiomyopathy

Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini

BMC Med Genet. 2017; 18: 145. Published online 2017 Dec 8. doi: 10.1186/s12881-017-0503-7

PMCID:: PMC5723071

Abstract Article PDF–1.2M

Select item 35259676.

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki, David N Cooper

Hum Genomics. 2011; 5(5): 453–484. Published online 2011 Jul 1. doi: 10.1186/1479-7364-5-5-453

PMCID:: PMC3525967

Abstract Article PDF–194K

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