Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-22863007
2.
Prominin-1 controls stem cell activation by orchestrating ciliary dynamics.
EMBO J
; 38(2)2019 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30523147
3.
MRONJ in breast cancer patients under bone modifying agents for cancer treatment-induced bone loss (CTIBL): a multi-hospital-based case series.
BMC Oral Health
; 23(1): 71, 2023 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36739399
4.
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Clin Genet
; 101(3): 346-358, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34964109
5.
Diagnostic and prognostic value of magnetic resonance imaging in the detection of tumor depth of invasion and bone invasion in patients with oral cavity cancer.
Radiol Med
; 127(12): 1364-1372, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36255660
6.
Innate Immune Signaling Contributes to Tubular Cell Senescence in the Glis2 Knockout Mouse Model of Nephronophthisis.
Am J Pathol
; 190(1): 176-189, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31676329
7.
Evidence of bias in randomized clinical trials of hepatitis C interferon therapies.
Clin Trials
; 14(5): 483-488, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28670909
8.
Transcription Factor Hepatocyte Nuclear Factor-1ß (HNF-1ß) Regulates MicroRNA-200 Expression through a Long Noncoding RNA.
J Biol Chem
; 290(41): 24793-805, 2015 Oct 09.
Artigo
Inglês
| MEDLINE | ID: mdl-26292219
9.
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.
Am J Physiol Renal Physiol
; 310(9): F895-908, 2016 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26887830
10.
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.
Kidney Int
; 89(6): 1307-23, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27181777
11.
Antifungal agents for preventing fungal infections in non-neutropenic critically ill patients.
Cochrane Database Syst Rev
; (1): CD004920, 2016 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-26772902
12.
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
Nat Genet
; 39(8): 1018-24, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17618285
13.
Hedgehog signaling indirectly affects tubular cell survival after obstructive kidney injury.
Am J Physiol Renal Physiol
; 309(9): F770-8, 2015 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26290370
14.
Ciliopathies and DNA damage: an emerging nexus.
Curr Opin Nephrol Hypertens
; 24(4): 366-70, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26050124
15.
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
J Am Soc Nephrol
; 25(8): 1653-61, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24610927
16.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nat Genet
; 38(6): 674-81, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16682973
17.
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Nat Genet
; 38(12): 1397-405, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17086182
18.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int
; 85(4): 880-7, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24257694
19.
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
J Am Soc Nephrol
; 24(3): 377-84, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23274426
20.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Nat Genet
; 37(3): 282-8, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15723066