PMC Links for Nucleotide (Select 1736273888) - PMC

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Items: 14

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 50107762.

Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics

Joseph H. Lee, Rong Cheng, Badri Vardarajan, Rafael Lantigua, Dolly Reyes-Dumeyer, Ward Ortmann, Robert R. Graham, Tushar Bhangale, Timothy W. Behrens, Martin Medrano, Ivonne Z. Jiménez-Velázquez, Richard Mayeux

JAMA Neurol. Author manuscript; available in PMC 2016 Sep 3.

Published in final edited form as: JAMA Neurol. 2015 Sep; 72(9): 1043–1051. doi: 10.1001/jamaneurol.2015.1424

PMCID:: PMC5010776

Abstract Article PDF–593K

Select item 36102143.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard

Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3

PMCID:: PMC3610214

Abstract Article PDF–1.7M

Select item 21397954.

Actinin-associated LIM Protein: Identification of a Domain Interaction between PDZ and Spectrin-like Repeat Motifs

Houhui Xia, Sara T. Winokur, Wen-Lin Kuo, Michael R. Altherr, David S. Bredt

J Cell Biol. 1997 Oct 20; 139(2): 507–515. doi: 10.1083/jcb.139.2.507

PMCID:: PMC2139795

Abstract Article PDF–2.8M

Select item 53243285.

Gene expression regional differences in human subcutaneous adipose tissue

Angelina Passaro, Maria Agata Miselli, Juana Maria Sanz, Edoardo Dalla Nora, Mario Luca Morieri, Rossella Colonna, Rado Pišot, Giovanni Zuliani

BMC Genomics. 2017; 18: 202. Published online 2017 Feb 23. doi: 10.1186/s12864-017-3564-2

PMCID:: PMC5324328

Abstract Article PDF–826K

Select item 51688246.

DNA Hypomethylation in Intragenic and Intergenic Enhancer Chromatin of Muscle-Specific Genes Usually Correlates with their Expression

Kenneth C. Ehrlich, Heather L. Paterson, Michelle Lacey, Melanie Ehrlich

Yale J Biol Med. 2016 Dec; 89(4): 441–455. Published online 2016 Dec 23.

PMCID:: PMC5168824

Abstract Article PDF–13M

Select item 49806617.

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

Orazio Palmieri, Tommaso Mazza, Antonio Merla, Caterina Fusilli, Antonello Cuttitta, Giuseppina Martino, Tiziana Latiano, Giuseppe Corritore, Fabrizio Bossa, Orazio Palumbo, Lucia Anna Muscarella, Massimo Carella, Paolo Graziano, Angelo Andriulli, Anna Latiano

Sci Rep. 2016; 6: 31549. Published online 2016 Aug 11. doi: 10.1038/srep31549

PMCID:: PMC4980661

Abstract Article PDF–1.1M

Select item 35952238.

Genome-Wide Analysis Using Exon Arrays Demonstrates an Important Role for Expression of Extra-Cellular Matrix, Fibrotic Control and Tissue Remodelling Genes in Dupuytren's Disease

Helen B. Forrester, Peter Temple-Smith, Seungmin Ham, David de Kretser, Graeme Southwick, Carl N. Sprung

PLoS One. 2013; 8(3): e59056. Published online 2013 Mar 12. doi: 10.1371/journal.pone.0059056

PMCID:: PMC3595223

Abstract Article PDF–1.3M

Select item 34456239.

Gene Expression and Functional Annotation of the Human Ciliary Body Epithelia

Sarah F. Janssen, Theo G. M. F. Gorgels, Koen Bossers, Jacoline B. ten Brink, Anke H. W. Essing, Martijn Nagtegaal, Peter J. van der Spek, Nomdo M. Jansonius, Arthur A. B. Bergen

PLoS One. 2012; 7(9): e44973. Published online 2012 Sep 18. doi: 10.1371/journal.pone.0044973

PMCID:: PMC3445623

Abstract Article PDF–861K

Select item 330678410.

Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

Paul A. Northcott, David J. H. Shih, Marc Remke, Yoon-Jae Cho, Marcel Kool, Cynthia Hawkins, Charles G. Eberhart, Adrian Dubuc, Toumy Guettouche, Yoslayma Cardentey, Eric Bouffet, Scott L. Pomeroy, Marco Marra, David Malkin, James T. Rutka, Andrey Korshunov, Stefan Pfister, Michael D. Taylor

Acta Neuropathol. 2012; 123(4): 615–626. Published online 2011 Nov 6. doi: 10.1007/s00401-011-0899-7