Detalhe da pesquisa
1.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet
; 32(3): 386-401, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981081
2.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
3.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940898
4.
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Am J Hum Genet
; 94(5): 649-61, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726472
5.
α-ENaC in bullfrog embryo: expression in cement gland, gills and skin.
Cell Tissue Res
; 355(1): 103-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057878
6.
FOXO1 regulates expression of Neurod4 in the pituitary gland.
Mol Cell Endocrinol
; 583: 112128, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142853
7.
Sequencing-guided design of genetically encoded small RNAs targeting CAG repeats for selective inhibition of mutant huntingtin.
Mol Ther Nucleic Acids
; 35(2): 102206, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803421
8.
Efficient Cloning and Sequence Validation of Repetitive and High GC-Content Short Hairpin RNAs.
Hum Gene Ther
; 33(15-16): 829-839, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35726380
9.
Gene editing with CRISPR-Cas12a guides possessing ribose-modified pseudoknot handles.
Nat Commun
; 12(1): 6591, 2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782635
10.
Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice.
Behav Brain Res
; 380: 112383, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783086
11.
Regulation of cytokine-inducible SH2-containing protein (CIS) by ubiquitination and Elongin B/C interaction.
Mol Cell Endocrinol
; 401: 130-41, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25448846
12.
DEAF1 binds unmethylated and variably spaced CpG dinucleotide motifs.
PLoS One
; 9(12): e115908, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25531106
13.
Larval bullfrog skin lacks amiloride-blockable epithelial transport because α-ENaC is located within intracellular vesicles in epidermal apical cells and not in the apical plasma membrane.
Acta Histochem
; 115(4): 357-62, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072797
14.
Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.
PLoS One
; 7(3): e33404, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22442688
15.
Larval bullfrog skin expresses ENaC despite having no amiloride-blockable transepithelial Na+ transport.
J Comp Physiol B
; 176(4): 287-93, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16308722
16.
Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).
J Biol Chem
; 279(31): 32692-9, 2004 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15161925