Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human

Humans Calcium / metabolism Carrier Proteins / genetics Induced Pluripotent Stem Cells / metabolism Cardiomyopathy, Hypertrophic / pathology Myocardium / metabolism Myocytes, Cardiac / metabolism Mutation Calcium, Dietary / metabolism Cytoskeletal Proteins / genetics

founder effect hypertrophic cardiomyopathy myosin binding protein-C personalized medicine sarcomere energetics

Journal

Circulation research

ISSN: 1524-4571

Titre abrégé: Circ Res

Pays: United States

ID NLM: 0047103

Informations de publication

Date de publication:
03 03 2023

Historique:

pubmed: 7 2 2023

medline: 7 3 2023

entrez: 6 2 2023

Statut: ppublish

Résumé

The pathogenesis of We collected clinical and genetic data from 93 HCM patients carrying the Haplotype analysis revealed HCM-related

Sections du résumé

BACKGROUND

The pathogenesis of

METHODS

We collected clinical and genetic data from 93 HCM patients carrying the

RESULTS

Haplotype analysis revealed

CONCLUSIONS

HCM-related

Identifiants

DOI: 10.1161/CIRCRESAHA.122.321956 PMID: 36744470 PMC: PMC9977265

pubmed: 36744470

doi: 10.1161/CIRCRESAHA.122.321956

pmc: PMC9977265

doi:

Substances chimiques

Calcium SY7Q814VUP

Carrier Proteins 0

Calcium, Dietary 0

Cytoskeletal Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

Pagination

628-644

Subventions

Organisme : British Heart Foundation

ID : FS/17/22/32644

Pays : United Kingdom

Références

Circulation. 2003 May 6;107(17):2227-32

pubmed: 12707239

J Muscle Res Cell Motil. 2021 Mar;42(1):47-57

pubmed: 31745760

Pflugers Arch. 2009 Jun;458(2):337-57

pubmed: 19165498

Genet Med. 2019 Feb;21(2):284-292

pubmed: 29875424

J Am Coll Cardiol. 2003 May 21;41(10):1776-82

pubmed: 12767664

Circ Res. 2004 Oct 29;95(9):930-6

pubmed: 15472117

Pflugers Arch. 2007 Apr;454(1):63-73

pubmed: 17123098

Int J Mol Sci. 2019 Aug 03;20(15):

pubmed: 31382622

Gene. 2015 Dec 1;573(2):188-97

pubmed: 26358504

Biophys J. 2006 Jun 1;90(11):4119-27

pubmed: 16513777

J Gen Physiol. 2013 Sep;142(3):241-55

pubmed: 23980194

JACC Heart Fail. 2015 Feb;3(2):180-8

pubmed: 25543971

J Gen Physiol. 2019 Jan 7;151(1):18-29

pubmed: 30578328

Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):E8143-E8152

pubmed: 30104387

Mayo Clin Proc. 2008 Jun;83(6):630-8

pubmed: 18533079

Trends Genet. 2003 May;19(5):263-8

pubmed: 12711218

Circ Res. 2003 Oct 17;93(8):752-8

pubmed: 14500336

Circulation. 2013 Feb 5;127(5):575-84

pubmed: 23271797

Prog Biophys Mol Biol. 2021 Jan;159:58-74

pubmed: 32710902

J Mol Med (Berl). 2009 Apr;87(4):411-22

pubmed: 19189074

J Cardiovasc Med (Hagerstown). 2006 Aug;7(8):601-7

pubmed: 16858239

Proc Natl Acad Sci U S A. 1988 May;85(9):3265-9

pubmed: 2966401

Pediatr Cardiol. 2019 Oct;40(7):1367-1387

pubmed: 31388700

Circ Heart Fail. 2017 Mar;10(3):

pubmed: 28255011

J Physiol. 2014 Aug 1;592(15):3257-72

pubmed: 24928957

J Muscle Res Cell Motil. 2012 May;33(1):75-80

pubmed: 22057632

J Mol Cell Cardiol. 2016 May;94:65-71

pubmed: 27021517

J Biomol Struct Dyn. 2017 Jul;35(9):1916-1922

pubmed: 27267291

Circulation. 2020 Mar 10;141(10):828-842

pubmed: 31983222

Biophys Rev. 2012 Jun 1;4(2):93-106

pubmed: 22707987

J Biol Chem. 2021 Jul;297(1):100854

pubmed: 34097875

Cardiovasc Res. 2015 Apr 1;105(4):397-408

pubmed: 25634555

J Physiol. 2008 Aug 1;586(15):3639-44

pubmed: 18565996

Circulation. 2009 Mar 24;119(11):1473-83

pubmed: 19273718

J Vis Exp. 2014 Apr 21;(86):

pubmed: 24798397

JCI Insight. 2020 Jan 30;5(2):

pubmed: 31877118

Cell. 1990 Sep 7;62(5):999-1006

pubmed: 1975517

Circulation. 2016 Nov 29;134(22):1738-1748

pubmed: 27688314

Circ Heart Fail. 2018 Jan;11(1):e004124

pubmed: 29321131

J Biol Chem. 2007 Mar 23;282(12):9204-15

pubmed: 17192269

Circ Genom Precis Med. 2019 Jan;12(1):e002368

pubmed: 30645170

Circ Cardiovasc Genet. 2012 Apr 1;5(2):156-66

pubmed: 22267749

J Am Coll Cardiol. 2020 Jun 2;75(21):2649-2660

pubmed: 32466879

J Mol Cell Cardiol. 2016 Jul;96:72-81

pubmed: 26385634

J Cardiovasc Transl Res. 2009 Dec;2(4):441-51

pubmed: 20560002

Circ Res. 2009 Jul 31;105(3):219-22

pubmed: 19574547

Eur J Hum Genet. 2004 Aug;12(8):673-7

pubmed: 15114369

PLoS One. 2017 Jun 28;12(6):e0180064

pubmed: 28658286

Pflugers Arch. 2005 Mar;449(6):505-17

pubmed: 15750836

Circ Cardiovasc Genet. 2014 Aug;7(4):434-43

pubmed: 25031304

Circulation. 2019 Mar 19;139(12):1517-1529

pubmed: 30586744

JACC Basic Transl Sci. 2019 Oct 09;4(7):795-813

pubmed: 31998849

J Cardiovasc Transl Res. 2015 Jun;8(4):232-43

pubmed: 25971843

Lancet. 2020 Sep 12;396(10253):759-769

pubmed: 32871100

Front Physiol. 2021 Nov 16;12:750364

pubmed: 34867455

J Am Heart Assoc. 2017 Jul 22;6(7):

pubmed: 28735292