Detalhe da pesquisa
1.
Myosin-binding protein H-like regulates myosin-binding protein distribution and function in atrial cardiomyocytes.
Proc Natl Acad Sci U S A
; 120(51): e2314920120, 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091294
2.
NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.
Hum Mol Genet
; 32(10): 1711-1721, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36661122
3.
Titin's cardiac-specific N2B element is critical to mechanotransduction during volume overload of the heart.
J Mol Cell Cardiol
; 191: 40-49, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604403
4.
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Am J Pathol
; 193(10): 1528-1547, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422147
5.
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Acta Neuropathol
; 147(1): 72, 2024 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634969
6.
Titin M-line insertion sequence 7 is required for proper cardiac function in mice.
J Cell Sci
; 134(18)2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34401916
7.
RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis.
FASEB J
; 36(5): e22302, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394688
8.
Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force.
Int J Mol Sci
; 24(20)2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894805
9.
Shortening the thick filament by partial deletion of titin's C-zone alters cardiac function by reducing the operating sarcomere length range.
J Mol Cell Cardiol
; 165: 103-114, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031281
10.
RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates.
J Mol Cell Cardiol
; 165: 115-129, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35041844
11.
KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat
; 43(12): 1860-1865, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335629
12.
Contributions of Titin and Collagen to Passive Stress in Muscles from mdm Mice with a Small Deletion in Titin's Molecular Spring.
Int J Mol Sci
; 23(16)2022 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012129
13.
Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits.
Int J Mol Sci
; 23(15)2022 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897687
14.
Rbm20ΔRRM Mice, Expressing a Titin Isoform with Lower Stiffness, Are Protected from Mechanical Ventilation-Induced Diaphragm Weakness.
Int J Mol Sci
; 23(24)2022 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555335
15.
Research Priorities for Heart Failure With Preserved Ejection Fraction: National Heart, Lung, and Blood Institute Working Group Summary.
Circulation
; 141(12): 1001-1026, 2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202936
16.
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.
Hum Mol Genet
; 28(10): 1709-1725, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689900
17.
Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle.
Proc Natl Acad Sci U S A
; 115(41): 10369-10374, 2018 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249654
18.
Increased Expression of N2BA Titin Corresponds to More Compliant Myofibrils in Athlete's Heart.
Int J Mol Sci
; 22(20)2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681770
19.
Deleting Full Length Titin Versus the Titin M-Band Region Leads to Differential Mechanosignaling and Cardiac Phenotypes.
Circulation
; 139(15): 1813-1827, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700140
20.
Deletion of obscurin immunoglobulin domains Ig58/59 leads to age-dependent cardiac remodeling and arrhythmia.
Basic Res Cardiol
; 115(6): 60, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910221