Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.
EMBO J
; 39(8): e102468, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154600
3.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
4.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
5.
KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model.
Physiol Genomics
; 54(7): 273-282, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35658672
6.
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Int J Mol Sci
; 23(18)2022 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142455
7.
Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.
Int J Mol Sci
; 22(21)2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34769402
8.
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
Am J Pathol
; 189(2): 354-369, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448410
9.
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Hum Mutat
; 40(6): 742-748, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851139
10.
TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels.
J Physiol
; 597(24): 5859-5878, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31622498
11.
High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.
J Biol Chem
; 293(4): 1203-1217, 2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29158263
12.
Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells.
Exp Physiol
; 104(6): 866-875, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924990
13.
Take a big sip and shrink it with ASOR.
Pflugers Arch
; 474(11): 1121-1122, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171315
14.
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.
Lab Invest
; 96(8): 862-71, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27295345
15.
Role of ANO4 in regulation of aldosterone secretion in the zona glomerulosa of the human adrenal gland.
Lancet
; 385 Suppl 1: S62, 2015 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26312884
16.
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.
J Physiol
; 593(17): 3829-48, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108457
17.
Non-canonical translation start sites in the TMEM16A chloride channel.
Biochim Biophys Acta
; 1838(1 Pt B): 89-97, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23994600
18.
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.
Biochem J
; 452(3): 443-55, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23570556
19.
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.
Stem Cell Res
; 76: 103333, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350246
20.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Front Mol Neurosci
; 17: 1268013, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650658