PMC Links for Nucleotide (Select 1654701887) - PMC

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Items: 12

Select item 64878371.

Incorporation of desmocollin‐2 into the plasma membrane requires N‐glycosylation at multiple sites

Andreas Brodehl, Caroline Stanasiuk, Dario Anselmetti, Jan Gummert, Hendrik Milting

FEBS Open Bio. 2019 May; 9(5): 996–1007. Published online 2019 Apr 3. doi: 10.1002/2211-5463.12631

PMCID:: PMC6487837

Abstract Article PDF–4.3M

Select item 53651112.

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

Andreas Brodehl, Darrell D. Belke, Lauren Garnett, Kristina Martens, Nelly Abdelfatah, Marcela Rodriguez, Catherine Diao, Yong-Xiang Chen, Paul M. K. Gordon, Anders Nygren, Brenda Gerull

PLoS One. 2017; 12(3): e0174019. Published online 2017 Mar 24. doi: 10.1371/journal.pone.0174019

PMCID:: PMC5365111

Abstract Article PDF–38M

Select item 16985743.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

Petros Syrris, Deirdre Ward, Alison Evans, Angeliki Asimaki, Estelle Gandjbakhch, Srijita Sen-Chowdhry, William J. McKenna

Am J Hum Genet. 2006 Nov; 79(5): 978–984. Published online 2006 Sep 27. doi: 10.1086/509122

PMCID:: PMC1698574

Abstract Article PDF–507K

Select item 61173134.

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 58475175.

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 55879606.

Antisense RNA transcripts in the blood may be novel diagnostic markers for colorectal cancer

Tomohiro Kurokawa, Keisuke Kohno, Kentaro Nagai, Mitsuru Chiba, Sugiru Pak, Soichiro Murata, Kiyoshi Fukunaga, Hiroshi Yasue, Nobuhiro Ohkohchi

Oncol Lett. 2017 Sep; 14(3): 3487–3493. Published online 2017 Jul 15. doi: 10.3892/ol.2017.6572

PMCID:: PMC5587960

Abstract Article PDF–1.1M

Select item 45217797.

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

PMCID:: PMC4521779

Abstract Article PDF–1.2M

Select item 42143508.

Desmocollin-2 affects the adhesive strength and cytoskeletal arrangement in esophageal squamous cell carcinoma cells

WANG-KAI FANG, LIAN-DI LIAO, FA-MIN ZENG, PI-XIAN ZHANG, JIAN-YI WU, JIAN SHEN, LI-YAN XU, EN-MIN LI

Mol Med Rep. 2014 Nov; 10(5): 2358–2364. Published online 2014 Aug 12. doi: 10.3892/mmr.2014.2485

PMCID:: PMC4214350

Abstract Article PDF–920K

Select item 37166119.

MMP-9 and CXCL8/IL-8 Are Potential Therapeutic Targets in Epidermolysis Bullosa Simplex

Thomas Lettner, Roland Lang, Alfred Klausegger, Stefan Hainzl, Johann W. Bauer, Verena Wally

PLoS One. 2013; 8(7): e70123. Published online 2013 Jul 19. doi: 10.1371/journal.pone.0070123

PMCID:: PMC3716611

Abstract Article PDF–1.1M

Select item 347139610.

PACSIN2 polymorphism influences TPMT activity and mercaptopurine-related gastrointestinal toxicity

Gabriele Stocco, Wenjian Yang, Kristine R. Crews, William E. Thierfelder, Giuliana Decorti, Margherita Londero, Raffaella Franca, Marco Rabusin, Maria Grazia Valsecchi, Deqing Pei, Cheng Cheng, Steven W. Paugh, Laura B. Ramsey, Barthelemy Diouf, Joseph Robert McCorkle, Terreia S. Jones, Ching-Hon Pui, Mary V. Relling, William E. Evans

Hum Mol Genet. 2012 Nov 1; 21(21): 4793–4804. Published online 2012 Jul 30. doi: 10.1093/hmg/dds302

PMCID:: PMC3471396

Abstract Article PDF–359K

Select item 295458411.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro

Acta Myol. 2010 Jul; 29(1): 1–20.

PMCID:: PMC2954584

Abstract Article PDF–699K

Select item 219075712.

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, Michela Salamon, Alessandra Lorenzon, Manuela Zaccolo, Luisa Mancuso, Luca Sigalotti, Barbara Bauce, Gianluca Occhi, Cristina Basso, Gerolamo Lanfranchi, Jeffrey A Towbin, Gaetano Thiene, Gian Antonio Danieli, Alessandra Rampazzo

BMC Med Genet. 2007; 8: 65. Published online 2007 Oct 26. doi: 10.1186/1471-2350-8-65