Detalhe da pesquisa
1.
BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.
Hum Mol Genet
; 27(15): 2712-2724, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767721
2.
H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hum Mol Genet
; 26(2): 354-366, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007907
3.
Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn.
Proc Natl Acad Sci U S A
; 112(13): E1624-31, 2015 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25775561
4.
Loss of Folliculin Disrupts Hematopoietic Stem Cell Quiescence and Homeostasis Resulting in Bone Marrow Failure.
Stem Cells
; 34(4): 1068-82, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095138
5.
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation.
Hum Mol Genet
; 23(21): 5706-19, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24908670
6.
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Int J Urol
; 23(3): 204-10, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608100
7.
The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
Blood
; 120(6): 1254-61, 2012 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22709692
8.
HLA-DRB1*04:05 is involved in the development of Vogt-Koyanagi-Harada disease-like immune-related adverse events in patients receiving immune checkpoint inhibitors.
Sci Rep
; 13(1): 13580, 2023 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604934
9.
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.
Proc Natl Acad Sci U S A
; 106(44): 18722-7, 2009 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19850877
10.
An open-label, prospective, single-arm study of switching from infliximab to cyclosporine for refractory uveitis in patients with Behçet's disease in long-term remission.
Jpn J Ophthalmol
; 65(6): 843-848, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34586526
11.
Blood and lymphatic systems are segregated by the FLCN tumor suppressor.
Nat Commun
; 11(1): 6314, 2020 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298956
12.
TFE3 Xp11.2 Translocation Renal Cell Carcinoma Mouse Model Reveals Novel Therapeutic Targets and Identifies GPNMB as a Diagnostic Marker for Human Disease.
Mol Cancer Res
; 17(8): 1613-1626, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043488
13.
Identification and characterization of a novel folliculin-interacting protein FNIP2.
Gene
; 415(1-2): 60-7, 2008 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-18403135
14.
Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease.
Mol Vis
; 13: 2334-8, 2007 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-18199975
15.
[Case of neurosarcoidosis with rapid visual field defect progression].
Nippon Ganka Gakkai Zasshi
; 111(9): 728-34, 2007 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-17907467
16.
Tyrosinase gene family and Vogt-Koyanagi-Harada disease in Japanese patients.
Mol Vis
; 12: 1601-5, 2006 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200659
17.
Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN.
J Natl Cancer Inst
; 104(22): 1750-64, 2012 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23150719
18.
Guidelines for the diagnosis of ocular sarcoidosis.
Ocul Immunol Inflamm
; 16(3): 77-81, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18569792
19.
Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects.
Immunogenetics
; 58(12): 947-53, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17048038