Detalhe da pesquisa
1.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
2.
Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.
J Pharmacol Exp Ther
; 386(3): 298-309, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37527933
3.
Kir6.1 and SUR2B in Cantú syndrome.
Am J Physiol Cell Physiol
; 323(3): C920-C935, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876283
4.
ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.
J Physiol
; 600(2): 299-312, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820842
5.
Endogenous currents in HEK 293 cells are inhibited by memantine.
Nat Chem Biol
; 19(11): 1303-1305, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798356
6.
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.
J Biol Chem
; 293(6): 2041-2052, 2018 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29275331
7.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Am J Med Genet C Semin Med Genet
; 181(4): 658-681, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828977
8.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Am J Med Genet A
; 179(8): 1585-1590, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175705
9.
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
J Biol Chem
; 292(42): 17387-17398, 2017 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842488
10.
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
Eur J Hum Genet
; 31(2): 188-194, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36336713
11.
Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent KATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome.
Cells
; 12(6)2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980269
12.
Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS.
EMBO Mol Med
; 15(6): e16883, 2023 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154692
13.
Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.
bioRxiv
; 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425756
14.
Isolation of Cardiac and Vascular Smooth Muscle Cells from Adult, Juvenile, Larval and Embryonic Zebrafish for Electrophysiological Studies.
J Vis Exp
; (180)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225267
15.
A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.
J Am Heart Assoc
; 11(24): e027363, 2022 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515236
16.
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
Horm Res Paediatr
; 95(3): 215-223, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999583
17.
Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
Cells
; 10(7)2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359961
18.
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
JCI Insight
; 6(5)2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33529173
19.
Coronavirus Proteins as Ion Channels: Current and Potential Research.
Front Immunol
; 11: 573339, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33154751
20.
Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome.
Front Pharmacol
; 11: 604885, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33329006