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1.
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Hum Mol Genet
; 33(12): 1090-1104, 2024 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38538566
2.
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Hum Mol Genet
; 30(23): 2286-2299, 2021 11 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-34244757
3.
Transforming Growth Factor-ß and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.
Cardiovasc Drugs Ther
; 35(6): 1233-1252, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33283255
4.
Dissecting the roles of MBD2 isoforms and domains in regulating NuRD complex function during cellular differentiation.
Nat Commun
; 14(1): 3848, 2023 06 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37385984
5.
DNA sequence and chromatin modifiers cooperate to confer epigenetic bistability at imprinting control regions.
Nat Genet
; 54(11): 1702-1710, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36333500
6.
Contraction pressure analysis using optical imaging in normal and MYBPC3-mutated hiPSC-derived cardiomyocytes grown on matrices with tunable stiffness.
Biomater Biosyst
; 8: 100068, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36824378
7.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Cilia
; 5: 8, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27069622
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