Detalhe da pesquisa
1.
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Hum Mol Genet
; 32(3): 431-449, 2023 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35997788
2.
SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.
Nucleic Acids Res
; 49(10): 5845-5866, 2021 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34023904
3.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32312818
4.
Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
Int J Mol Sci
; 24(24)2023 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38139438
5.
Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.
Molecules
; 27(10)2022 May 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35630584
6.
PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
Hum Mol Genet
; 28(24): 4078-4088, 2019 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31628458
7.
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Hum Mol Genet
; 26(6): 1157-1172, 2017 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28137943
8.
The Abundant Tegument Protein pUL25 of Human Cytomegalovirus Prevents Proteasomal Degradation of pUL26 and Supports Its Suppression of ISGylation.
J Virol
; 92(24)2018 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30282718
9.
Tackling the Limitations of Copolymeric Small Interfering RNA Delivery Agents by a Combined Experimental-Computational Approach.
Biomacromolecules
; 20(12): 4389-4406, 2019 12 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31686497
10.
Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors.
Hum Mol Genet
; 25(12): 2367-2377, 2016 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27033727
11.
Impact of the Usher syndrome on olfaction.
Hum Mol Genet
; 25(3): 524-33, 2016 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26620972
12.
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Exp Eye Res
; 173: 148-159, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29777677
13.
The GTP- and Phospholipid-Binding Protein TTD14 Regulates Trafficking of the TRPL Ion Channel in Drosophila Photoreceptor Cells.
PLoS Genet
; 11(10): e1005578, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26509977
14.
International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.
Pharmacol Rev
; 67(2): 338-67, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25713288
15.
[The Usher Syndrome, a Human Ciliopathy]. / Das Usher-Syndrom, eine Ziliopathie des Menschen.
Klin Monbl Augenheilkd
; 235(3): 273-280, 2018 Mar.
Artigo
Alemão
| MEDLINE | ID: mdl-29534264
16.
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Hum Mol Genet
; 24(4): 972-86, 2015 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25292197
17.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Am J Hum Genet
; 94(5): 760-9, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24791901
18.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26593283
19.
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
Hum Mol Genet
; 23(15): 3923-42, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24608321
20.
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Hum Mol Genet
; 23(19): 5197-210, 2014 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24833722