Detalhe da pesquisa
1.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451268
2.
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy.
EMBO J
; 40(4): e105120, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368531
3.
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.
EMBO J
; 40(10): e106503, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33934390
4.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158857
5.
Combining ß-Carotene with 5-FU via Polymeric Nanoparticles as a Novel Therapeutic Strategy to Overcome uL3-Mediated Chemoresistance in p53-Deleted Colorectal Cancer Cells.
Mol Pharm
; 20(5): 2326-2340, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976623
6.
OFD1: One gene, several disorders.
Am J Med Genet C Semin Med Genet
; 190(1): 57-71, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112477
7.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488810
8.
The HOPS complex subunit VPS39 controls ciliogenesis through autophagy.
Hum Mol Genet
; 29(6): 1018-1029, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077937
9.
Histone Deacetylase Sirtuin 1 Promotes Loss of Primary Cilia in Cholangiocarcinoma.
Hepatology
; 74(6): 3235-3248, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34322899
10.
Generation and Characterization of a Tumor Stromal Microenvironment and Analysis of Its Interplay with Breast Cancer Cells: An In Vitro Model to Study Breast Cancer-Associated Fibroblast Inactivation.
Int J Mol Sci
; 23(12)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743318
11.
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.
Hum Mol Genet
; 28(5): 764-777, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388222
12.
Integrated Genomics Identifies miR-181/TFAM Pathway as a Critical Driver of Drug Resistance in Melanoma.
Int J Mol Sci
; 22(4)2021 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670365
13.
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models.
Am J Physiol Gastrointest Liver Physiol
; 318(6): G1022-G1033, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338033
14.
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis.
Gastroenterology
; 156(4): 1173-1189.e5, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452922
15.
OFD Type I syndrome: lessons learned from a rare ciliopathy.
Biochem Soc Trans
; 48(5): 1929-1939, 2020 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897366
16.
Expansion of the phenotype of lateral meningocele syndrome.
Am J Med Genet A
; 182(5): 1259-1262, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141180
17.
The Pervasive Role of the miR-181 Family in Development, Neurodegeneration, and Cancer.
Int J Mol Sci
; 21(6)2020 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197476
18.
Role of uL3 in the Crosstalk between Nucleolar Stress and Autophagy in Colon Cancer Cells.
Int J Mol Sci
; 21(6)2020 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244996
19.
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Hum Mol Genet
; 26(1): 19-32, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798113
20.
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
Nature
; 502(7470): 254-7, 2013 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24089205