Detalhe da pesquisa
1.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
2.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Hum Mutat
; 40(5): 539-551, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668888
3.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet
; 99(2): 470-80, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486781
4.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
5.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
6.
The Small GTPase Arf6: An Overview of Its Mechanisms of Action and of Its Role in Hostâ»Pathogen Interactions and Innate Immunity.
Int J Mol Sci
; 20(9)2019 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060328
7.
Straightforward Protein-Protein Interaction Interface Mapping via Random Mutagenesis and Mammalian Protein Protein Interaction Trap (MAPPIT).
Int J Mol Sci
; 20(9)2019 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027327
8.
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Genet Med
; 20(7): 717-727, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261182
9.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Genet Med
; 19(4): 367-376, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490115
10.
Leptin's metabolic and immune functions can be uncoupled at the ligand/receptor interaction level.
Cell Mol Life Sci
; 72(3): 629-644, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098352
11.
The small GTPase Arf6 is essential for the Tram/Trif pathway in TLR4 signaling.
J Biol Chem
; 289(3): 1364-76, 2014 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297182
12.
Reciprocal cross-regulation between RNF41 and USP8 controls cytokine receptor sorting and processing.
J Cell Sci
; 126(Pt 16): 3770-81, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23750007
13.
Identification of binding sites for myeloid differentiation primary response gene 88 (MyD88) and Toll-like receptor 4 in MyD88 adapter-like (Mal).
J Biol Chem
; 288(17): 12054-66, 2013 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23460645
14.
Antagonizing leptin: current status and future directions.
Biol Chem
; 395(5): 499-514, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24523306
15.
Germline gain-of-function myeloid differentiation primary response gene-88 (MYD88) mutation in a child with severe arthritis.
J Allergy Clin Immunol
; 141(5): 1943-1947.e9, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427642
16.
Crosstalk interactions between transcription factors ERRα and PPARα assist PPARα-mediated gene expression.
Mol Metab
; 84: 101938, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631478
17.
Identification of interaction sites for dimerization and adapter recruitment in Toll/interleukin-1 receptor (TIR) domain of Toll-like receptor 4.
J Biol Chem
; 287(6): 4088-98, 2012 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139835
18.
Selection of non-competitive leptin antagonists using a random nanobody-based approach.
Biochem J
; 441(1): 425-34, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21851341
19.
Deep mutational scanning of proteins in mammalian cells.
Cell Rep Methods
; 3(11): 100641, 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963462
20.
The Biologist's Guide to the Glucocorticoid Receptor's Structure.
Cells
; 12(12)2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371105