PMC Links for Protein (Select 115496169) - PMC

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Items: 14

Select item 65821531.

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity

Arjun S. Adhikari, Darshan V. Trivedi, Saswata S. Sarkar, Dan Song, Kristina B. Kooiker, Daniel Bernstein, James A. Spudich, Kathleen M. Ruppel

Nat Commun. 2019; 10: 2685. Published online 2019 Jun 18. doi: 10.1038/s41467-019-10555-9

PMCID:: PMC6582153

Abstract Article PDF–2.9M

Select item 64047812.

Thick Filament Protein Network, Functions, and Disease Association

Li Wang, Janelle Geist, Alyssa Grogan, Li-Yen R. Hu, Aikaterini Kontrogianni-Konstantopoulos

Compr Physiol. Author manuscript; available in PMC 2019 Mar 13.

Published in final edited form as: Compr Physiol. 2018 Mar 13; 8(2): 631–709. Published online 2018 Mar 13. doi: 10.1002/cphy.c170023

PMCID:: PMC6404781

Abstract Article PDF–2.6M

Select item 64020963.

The ancient sarcomeric myosins found in specialized muscles

Lindsey A. Lee, Anastasia Karabina, Lindsey J. Broadwell, Leslie A. Leinwand

Skelet Muscle. 2019; 9: 7. Published online 2019 Mar 5. doi: 10.1186/s13395-019-0192-3

PMCID:: PMC6402096

Abstract Article PDF–1.3M

Select item 58605834.

tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine

Chih-Hsuan Wei, Lon Phan, Juliana Feltz, Rama Maiti, Tim Hefferon, Zhiyong Lu

Bioinformatics. 2018 Jan 1; 34(1): 80–87. Published online 2017 Sep 1. doi: 10.1093/bioinformatics/btx541

PMCID:: PMC5860583

Abstract Article PDF–543K

Select item 57499515.

Mechanistic insights into the active site and allosteric communication pathways in human nonmuscle myosin-2C

Krishna Chinthalapudi, Sarah M Heissler, Matthias Preller, James R Sellers, Dietmar J Manstein

eLife. 2017; 6: e32742. Published online 2017 Dec 19. doi: 10.7554/eLife.32742

PMCID:: PMC5749951

Abstract Article PDF–4.0M

Select item 50531946.

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

Beatriz Piva e Mattos, Fernando Luís Scolari, Marco Antonio Rodrigues Torres, Laura Simon, Valéria Centeno de Freitas, Roberto Giugliani, Úrsula Matte

Arq Bras Cardiol. 2016 Sep; 107(3): 257–265. doi: 10.5935/abc.20160133

PMCID:: PMC5053194

Abstract Article PDF–338K

Select item 44579567.

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N. Singh, Jamila Wynter, Carmen Brewer, Brian P. Brooks, Isaac Brownell, Fabio Candotti, Steven G. Gonsalves, Suzanne P. Hart, Heidi H. Kong, Kristina I. Rother, Robert Sokolic, Benjamin D. Solomon, Wadih M. Zein, David N. Cooper, Peter D. Stenson, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2015 Jun 4; 96(6): 913–925. doi: 10.1016/j.ajhg.2015.04.013

PMCID:: PMC4457956

Abstract Article PDF–219K

Select item 44135558.

The Sarcomeric M-Region: A Molecular Command Center for Diverse Cellular Processes

Li-Yen R. Hu, Maegen A. Ackermann, Aikaterini Kontrogianni-Konstantopoulos

Biomed Res Int. 2015; 2015: 714197. Published online 2015 Apr 15. doi: 10.1155/2015/714197

PMCID:: PMC4413555

Abstract Article PDF–1.5M

Select item 38699129.

Lampreys Have a Single Gene Cluster for the Fast Skeletal Myosin Heavy Chain Gene Family

Daisuke Ikeda, Yosuke Ono, Shigeki Hirano, Nobuhiro Kan-no, Shugo Watabe

PLoS One. 2013; 8(12): e85500. Published online 2013 Dec 20. doi: 10.1371/journal.pone.0085500

PMCID:: PMC3869912

Abstract Article PDF–1.3M

Select item 386516110.

Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy

Marco Merlo, Gianfranco Sinagra, Elisa Carniel, Dobromir Slavov, Xiao Zhu, Giulia Barbati, Anita Spezzacatene, Federica Ramani, Ernesto Salcedo, Andrea Di Lenarda, Luisa Mestroni, Matthew R. G. Taylor, on behalf of the Familial Cardiomyopathy Registry

Clin Transl Sci. 2013 Dec; 6(6): 424–428. Published online 2013 Oct 3. doi: 10.1111/cts.12116

PMCID:: PMC3865161

Abstract Article PDF–302K

Select item 361680311.

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Love, Chuan-Ching Lan, Alice M. George, Anthony Thrush, Donald R. Love

Sultan Qaboos Univ Med J. 2013 Feb; 13(1): 69–79. Published online 2013 Feb 27. doi: 10.12816/0003198

PMCID:: PMC3616803

Abstract Article PDF–965K

Select item 322983812.

Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy

Roberta Roncarati, Michael VG Latronico, Beatrice Musumeci, Stefania Aurino, Annalaura Torella, Marie-Louise Bang, Gloria Saccani Jotti, Annibale A Puca, Massimo Volpe, Vincenzo Nigro, Camillo Autore, Gianluigi Condorelli

J Cell Physiol. 2011 Nov; 226(11): 2894–2900. Published online 2011 Feb 1. doi: 10.1002/jcp.22636

PMCID:: PMC3229838

Abstract Article PDF–138K

Select item 260702113.

A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease

David Burgner, Sonia Davila, Willemijn B. Breunis, Sarah B. Ng, Yi Li, Carine Bonnard, Ling Ling, Victoria J. Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C. Burns, Michael Levin, Taco W. Kuijpers, Martin L. Hibberd, International Kawasaki Disease Genetics Consortium

PLoS Genet. 2009 Jan; 5(1): e1000319. Published online 2009 Jan 9. doi: 10.1371/journal.pgen.1000319

PMCID:: PMC2607021

Abstract Article PDF–368K

Select item 219467114.

Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes

Anje C Wiersma, Peter AJ Leegwater, Bernard A van Oost, William E Ollier, Joanna Dukes-McEwan

BMC Vet Res. 2007; 3: 28. Published online 2007 Oct 19. doi: 10.1186/1746-6148-3-28

PMCID:: PMC2194671

Abstract Article PDF–297K

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PMC Links for Protein (Select 115496169) (14)
PMC
Homo sapiens OCT4-NANOG hESC enhancer GRCh37_chr5:168884987-168885782 (LOC127404...
Homo sapiens OCT4-NANOG hESC enhancer GRCh37_chr5:168884987-168885782 (LOC127404565) on chromosome 5
gi|2325288618|ref|NG_106514.1|

Nucleotide
DEAD box polypeptide 42 protein, partial [Tachycineta bicolor]
DEAD box polypeptide 42 protein, partial [Tachycineta bicolor]
gi|440504951|gb|AGC10047.1|

Protein
UNVERIFIED: Diderma niveum voucher LE292251 translation elongation factor alpha-...
UNVERIFIED: Diderma niveum voucher LE292251 translation elongation factor alpha-like gene, partial sequence
gi|1026191221|gb|KU198147.1|

Nucleotide
LOC127887983 [Homo sapiens]
LOC127887983 [Homo sapiens]
Gene ID:127887983

Gene

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