Detalhe da pesquisa
1.
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.
Nature
; 594(7862): 271-276, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910229
2.
A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.
Am J Hum Genet
; 109(10): 1814-1827, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167069
3.
Cardiac Troponin I-Interacting Kinase Affects Cardiomyocyte S-Phase Activity but Not Cardiomyocyte Proliferation.
Circulation
; 147(2): 142-153, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36382596
4.
Transcriptomic signatures of individual cell types in cerebral cavernous malformation.
Cell Commun Signal
; 22(1): 23, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195510
5.
Pathologic features of brain hemorrhage after radiation treatment: case series with somatic mutation analysis.
J Stroke Cerebrovasc Dis
; 33(7): 107699, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552890
6.
mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice.
Stroke
; 54(11): 2906-2917, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746705
7.
Cerebral Cavernous Malformation: From Mechanism to Therapy.
Circ Res
; 129(1): 195-215, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34166073
8.
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.
Hum Genet
; 141(11): 1761-1769, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488064
9.
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
Am J Hum Genet
; 105(5): 894-906, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630786
10.
Novel Murine Models of Cerebral Cavernous Malformations.
Angiogenesis
; 23(4): 651-666, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710309
11.
Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells.
Circ Res
; 123(10): 1143-1151, 2018 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359189
12.
Phenotypic characterization of murine models of cerebral cavernous malformations.
Lab Invest
; 99(3): 319-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946133
13.
BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.
Circulation
; 136(3): 281-296, 2017 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28442482
14.
The pathobiology of vascular malformations: insights from human and model organism genetics.
J Pathol
; 241(2): 281-293, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859310
15.
RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations.
Stroke
; 48(1): 187-194, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879448
16.
Propranolol as therapy for cerebral cavernous malformations: a cautionary note.
J Transl Med
; 20(1): 160, 2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35382850
17.
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
Hum Mol Genet
; 23(16): 4357-70, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698976
18.
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
N Engl J Med
; 368(21): 1971-9, 2013 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23656586
19.
Inhibition of the cardiomyocyte-specific troponin I-interacting kinase limits oxidative stress, injury, and adverse remodeling due to ischemic heart disease.
Circ Res
; 114(6): 938-40, 2014 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625723