PMC Links for Nucleotide (Select 1779260915) - 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 70107675.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Abstract Article PDF–1.5M

Select item 60259136.

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D

Nejat Mahdieh, Sedigheh Saedi, Mahdieh Soveizi, Bahareh Rabbani, Nasim Najafi, Majid Maleki

Med J Islam Repub Iran. 2018; 32: 5. Published online 2018 Feb 6. doi: 10.14196/mjiri.32.5

PMCID:: PMC6025913

Abstract Article PDF–2.0M

Select item 56042977.

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu

BMC Med Genet. 2017; 18: 104. Published online 2017 Sep 18. doi: 10.1186/s12881-017-0460-1

PMCID:: PMC5604297

Abstract Article PDF–1.4M

Select item 54052168.

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Najim Lahrouchi, Hariharan Raju, Elisabeth M. Lodder, Efstathios Papatheodorou, James S. Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R. Skinner, Jackie Crawford, Donald R. Love, Chee J. Pua, Bee Y. Soh, Jaydutt D. Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G. Winkel, Christian van der Werf, Yanushi D. Wijeyeratne, Greg Mellor, Jan Till, Marta C. Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A.M. Wilde, Stuart A. Cook, Connie R. Bezzina, Mary N. Sheppard, Elijah R. Behr

J Am Coll Cardiol. 2017 May 2; 69(17): 2134–2145. doi: 10.1016/j.jacc.2017.02.046

PMCID:: PMC5405216

Abstract Article PDF–1.0M

Select item 33498589.

Plakophilin-2: a cell-cell adhesion plaque molecule of selective and fundamental importance in cardiac functions and tumor cell growth

Steffen Rickelt

Cell Tissue Res. 2012; 348(2): 281–294. Published online 2012 Jan 28. doi: 10.1007/s00441-011-1314-3

PMCID:: PMC3349858

Abstract Article PDF–1.3M

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