Altered contractility, Ca
Esbtein’s anomaly
cardiomyocyte contraction
congenital heart disease
iPSC disease modeling
left ventricular noncompaction
Journal
American journal of physiology. Heart and circulatory physiology
ISSN: 1522-1539
Titre abrégé: Am J Physiol Heart Circ Physiol
Pays: United States
ID NLM: 100901228
Informations de publication
Date de publication:
01 07 2023
01 07 2023
Historique:
pmc-release:
01
07
2024
medline:
28
6
2023
pubmed:
19
5
2023
entrez:
19
5
2023
Statut:
ppublish
Résumé
Patients with two congenital heart diseases (CHDs), Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), suffer higher morbidity than either CHD alone. The genetic etiology and pathogenesis of combined EA/LVNC remain largely unknown. We investigated a familial EA/LVNC case associated with a variant (p.R237C) in the gene encoding Kelch-like protein 26 (KLHL26) by differentiating induced pluripotent stem cells (iPSCs) generated from affected and unaffected family members into cardiomyocytes (iPSC-CMs) and assessing iPSC-CM morphology, function, gene expression, and protein abundance. Compared with unaffected iPSC-CMs, CMs containing the
Identifiants
pubmed: 37204873
doi: 10.1152/ajpheart.00658.2022
pmc: PMC10312315
doi:
Banques de données
figshare
['10.6084/m9.figshare.21550149']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
H149-H162Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM080202
Pays : United States
Références
Curr Protoc Hum Genet. 2018 Oct;99(1):e67
pubmed: 30253059
Am J Med Genet A. 2019 May;179(5):792-796
pubmed: 30773818
Orphanet J Rare Dis. 2019 Dec 19;14(1):295
pubmed: 31856884
Case Rep Pediatr. 2021 Nov 11;2021:9969588
pubmed: 34804625
Am J Med Genet A. 2016 Aug;170(8):2186-90
pubmed: 27177193
Protein Sci. 2021 Jan;30(1):187-200
pubmed: 33070389
Nat Rev Cardiol. 2017 Jun;14(6):342-360
pubmed: 28275246
J Clin Invest. 1999 Dec;104(11):1567-73
pubmed: 10587520
Nature. 2012 Feb 22;482(7386):495-500
pubmed: 22358839
J Thorac Cardiovasc Surg. 2014 Nov;148(5):e223-6
pubmed: 25444217
EMBO Rep. 2017 Nov;18(11):1905-1921
pubmed: 29074503
Nat Cell Biol. 2016 Oct;18(10):1031-42
pubmed: 27642787
Am J Med Genet A. 2011 Sep;155A(9):2196-202
pubmed: 21815254
Bioinformatics. 2014 Mar 15;30(6):801-7
pubmed: 22321699
Circ Cardiovasc Genet. 2017 Dec;10(6):
pubmed: 29237676
Exp Cell Res. 2008 Mar 10;314(5):1177-91
pubmed: 18178185
Mol Genet Genomic Med. 2020 Apr;8(4):e1152
pubmed: 31985165
Am J Physiol Cell Physiol. 2012 Jun 15;302(12):C1762-71
pubmed: 22496245
Arkh Patol. 2015 Nov-Dec;77(6):3-8
pubmed: 26841643
Am J Med Genet A. 2022 Jan;188(1):373-376
pubmed: 34549882
Nature. 2011 May 26;473(7348):528-31
pubmed: 21532591
Mol Cell Biol. 2004 Aug;24(16):7130-9
pubmed: 15282312
Biochim Biophys Acta. 2012 Jun;1822(6):1038-50
pubmed: 22366763
Circulation. 2007 Jan 16;115(2):277-85
pubmed: 17228014
J Biol Chem. 2018 Jun 8;293(23):8802-8811
pubmed: 29653945
Circ Genom Precis Med. 2018 Oct;11(10):e002123
pubmed: 30354300
Nat Commun. 2018 Jan 25;9(1):368
pubmed: 29371594
Science. 2019 May 31;364(6443):865-870
pubmed: 31147515
Mech Dev. 2009 Oct;126(10):852-62
pubmed: 19643178
J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27
pubmed: 14662268
J Clin Invest. 2017 Oct 2;127(10):3730-3740
pubmed: 28872460
Am J Hum Genet. 2013 Dec 5;93(6):1108-17
pubmed: 24268659
OMICS. 2012 May;16(5):284-7
pubmed: 22455463
Genome Biol. 2014;15(12):550
pubmed: 25516281
Gene. 1999 Mar 4;228(1-2):73-83
pubmed: 10072760
J Mol Cell Cardiol. 2007 Jun;42(6):1026-35
pubmed: 17509612
J Biol Chem. 2011 Sep 23;286(38):33613-21
pubmed: 21828050
Front Cell Dev Biol. 2020 Jun 23;8:440
pubmed: 32656206
J Biol Chem. 2002 Nov 15;277(46):44140-6
pubmed: 12213805
J Mol Cell Cardiol. 2007 Aug;43(2):215-22
pubmed: 17561107
Int J Dev Biol. 2012;56(4):301-9
pubmed: 22562206
Nucleic Acids Res. 2019 Jul 2;47(W1):W191-W198
pubmed: 31066453
J Biol Chem. 2013 Mar 15;288(11):7803-7814
pubmed: 23349464
J Clin Med. 2020 Mar 13;9(3):
pubmed: 32183154
Pediatr Cardiol. 2018 Aug;39(6):1099-1106
pubmed: 29766225
Physiology (Bethesda). 2012 Dec;27(6):343-50
pubmed: 23223628
Cell. 2015 Jul 16;162(2):425-440
pubmed: 26186194
Circ Cardiovasc Genet. 2011 Feb;4(1):43-50
pubmed: 21127202
Cold Spring Harb Perspect Biol. 2011 Jun 01;3(6):
pubmed: 21441595
Mol Cell Biol. 2012 Dec;32(24):5089-102
pubmed: 23071090
Mol Cell. 2012 Dec 14;48(5):692-704
pubmed: 23102700
J Biomed Sci. 2004 Sep-Oct;11(5):542-65
pubmed: 15316129
Mol Cell Biochem. 2007 Feb;296(1-2):109-19
pubmed: 16964437
FASEB J. 2006 Jan;20(1):181-3
pubmed: 16249315
Am J Physiol Cell Physiol. 2011 Jun;300(6):C1345-55
pubmed: 21368295
Stem Cell Reports. 2015 Apr 14;4(4):621-31
pubmed: 25801505
Differentiation. 2013 Nov-Dec;86(4-5):184-91
pubmed: 24361185
Am J Med Genet A. 2013 Dec;161A(12):3187-90
pubmed: 23956225
PLoS One. 2007 Dec 26;2(12):e1362
pubmed: 18159245
Acta Pharmacol Sin. 2010 Sep;31(9):1019-21
pubmed: 20694023
J Mol Biol. 2017 Apr 7;429(7):1045-1066
pubmed: 28238764
Eur Heart J. 2007 Nov;28(22):2732-7
pubmed: 17947214
Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):E4101-E4110
pubmed: 29632206
Med Image Comput Comput Assist Interv. 2014;17(Pt 1):57-64
pubmed: 25333101
Mol Biol Cell. 2004 Mar;15(3):1172-84
pubmed: 14668487
Circ Res. 2018 Feb 2;122(3):e5-e16
pubmed: 29282212
Hum Genomics. 2013 May 15;7:13
pubmed: 23676014
J Am Coll Cardiol. 2018 Feb 20;71(7):711-722
pubmed: 29447731
BMC Med Genomics. 2022 Feb 24;15(1):36
pubmed: 35209905
Int J Cardiol. 2010 Feb 4;138(3):261-5
pubmed: 19073351
J Cardiovasc Dev Dis. 2022 Apr 13;9(4):
pubmed: 35448091
Int J Mol Sci. 2020 Nov 09;21(21):
pubmed: 33182325
Eur J Med Genet. 2018 Jan;61(1):8-10
pubmed: 29024827
Mayo Clin Proc. 2005 Mar;80(3):361-8
pubmed: 15757018
Circ Res. 2021 Jan 8;128(1):92-114
pubmed: 33092464
Bioinformatics. 2015 Feb 15;31(4):608-9
pubmed: 25677125
Cell. 2016 Oct 6;167(2):525-538.e14
pubmed: 27716508
Front Physiol. 2021 Mar 01;12:633058
pubmed: 33732165
Nat Rev Mol Cell Biol. 2005 Jan;6(1):9-20
pubmed: 15688063
Nat Cell Biol. 2016 Jan;18(1):7-20
pubmed: 26641715
Am J Physiol Heart Circ Physiol. 2018 Oct 1;315(4):H885-H896
pubmed: 30074836
Int J Cardiol. 2016 Dec 15;225:371-380
pubmed: 27760414
Eur J Med Genet. 2020 Apr;63(4):103849
pubmed: 31953236