Detalhe da pesquisa
1.
Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy.
Int J Mol Sci
; 22(16)2021 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445659
2.
Fibrosis Rescue Improves Cardiac Function in Dystrophin-Deficient Mice and Duchenne Patient-Specific Cardiomyocytes by Immunoproteasome Modulation.
Am J Pathol
; 189(2): 339-353, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448404
3.
"Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.
Int J Mol Sci
; 21(19)2020 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32977524
4.
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
Clin Genet
; 95(3): 368-374, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471091
5.
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
J Hum Genet
; 59(11): 631-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25273674
6.
Generation of four human induced pluripotent stem cell lines from COVID-19 hospitalized patients with increased levels of cardiac Troponin in the acute infection phase developing or not myocarditis.
Stem Cell Res
; 67: 103018, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36630840
7.
IPSC derived cardiac fibroblasts of DMD patients show compromised actin microfilaments, metabolic shift and pro-fibrotic phenotype.
Biol Direct
; 18(1): 41, 2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501163
8.
Corrigendum: Calcium handling maturation and adaptation to increased substrate stiffness in human iPSC-derived cardiomyocytes: the impact of full-length dystrophin deficiency.
Front Physiol
; 14: 1222400, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37383144
9.
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A).
Stem Cell Res
; 64: 102889, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35961103
10.
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Biomolecules
; 12(8)2022 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008935
11.
Calcium handling maturation and adaptation to increased substrate stiffness in human iPSC-derived cardiomyocytes: The impact of full-length dystrophin deficiency.
Front Physiol
; 13: 1030920, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36419836
12.
The Endocannabinoid System and Cannabidiol: Past, Present, and Prospective for Cardiovascular Diseases.
Pharmaceuticals (Basel)
; 14(9)2021 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34577636
13.
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Biomolecules
; 11(11)2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34827619
14.
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
Sci Rep
; 10(1): 8275, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427849
15.
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
Stem Cell Res
; 45: 101819, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32348941
16.
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Stem Cell Res
; 40: 101553, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491690
17.
Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).
Stem Cell Res
; 40: 101544, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465894
18.
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aâ¯>â¯T, p.(Lys1277*).
Stem Cell Res
; 30: 175-179, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29944992
19.
Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine.
J Clin Med
; 7(9)2018 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30235804
20.
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).
Stem Cell Res
; 28: 21-24, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29414413