Detalhe da pesquisa
1.
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.
Hum Mol Genet
; 31(16): 2796-2809, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348702
2.
The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.
J Transl Med
; 21(1): 171, 2023 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869348
3.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
4.
Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model.
J Cell Physiol
; 235(11): 7870-7888, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943169
5.
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.
Biochem J
; 475(24): 3933-3948, 2018 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446606
6.
The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities.
J Cell Physiol
; 232(7): 1650-1659, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27731493
7.
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis.
Br J Haematol
; 167(1): 48-61, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989799
8.
The zebrafish reveals dependence of the mast cell lineage on Notch signaling in vivo.
Blood
; 119(15): 3585-94, 2012 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22368273
9.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682
10.
CD14+/CD31+ monocytes expanded by UM171 correct hemophilia A in zebrafish upon lentiviral gene transfer of factor VIII.
Blood Adv
; 7(5): 697-711, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477543
11.
JC-10 probe as a novel method for analyzing the mitochondrial membrane potential and cell stress in whole zebrafish embryos.
Toxicol Res (Camb)
; 11(1): 77-87, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237413
12.
NUP98-HOXA9-transgenic zebrafish develop a myeloproliferative neoplasm and provide new insight into mechanisms of myeloid leukaemogenesis.
Br J Haematol
; 155(2): 167-81, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21810091
13.
Microinjection quality control in zebrafish model for genetic manipulations.
MethodsX
; 8: 101418, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34430313
14.
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
Cells
; 9(8)2020 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32726939
15.
Organ-specific toxicity evaluation of stearamidopropyl dimethylamine (SAPDMA) surfactant using zebrafish embryos.
Sci Total Environ
; 741: 140450, 2020 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886985
16.
Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish.
Ann N Y Acad Sci
; 1448(1): 19-29, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937913
17.
Using Zebrafish for Investigating the Molecular Mechanisms of Drug-Induced Cardiotoxicity.
Biomed Res Int
; 2018: 1642684, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363733
18.
Mast cell development and function in the zebrafish.
Methods Mol Biol
; 1220: 29-57, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388243