Detalhe da pesquisa
1.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Hum Mol Genet
; 30(22): 2068-2081, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34170319
2.
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
PLoS Genet
; 14(12): e1007845, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30543681
3.
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
J Med Genet
; 55(2): 81-85, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175836
4.
Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease.
Histochem Cell Biol
; 150(6): 593-605, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361777
5.
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
J Med Genet
; 54(3): 176-185, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27707803
6.
Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.
Sci Rep
; 14(1): 1742, 2024 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242956
7.
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
FEBS Lett
; 597(22): 2750-2768, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873737
8.
Mitotic disassembly and reassembly of nuclear pore complexes.
Trends Cell Biol
; 31(12): 1019-1033, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34294532
9.
Targeted CRM1-inhibition perturbs leukemogenic NUP214 fusion proteins and exerts anti-cancer effects in leukemia cell lines with NUP214 rearrangements.
Oncotarget
; 11(36): 3371-3386, 2020 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934780
10.
Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach.
Cells
; 9(7)2020 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32664447
11.
Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.
Sci Rep
; 10(1): 19301, 2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168876
12.
A steady state system for in vitro evaluation of steroidogenic pathway dynamics: Application for CYP11B1, CYP11B2 and CYP17 inhibitors.
J Steroid Biochem Mol Biol
; 188: 38-47, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30529282
13.
Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
Cell Div
; 13: 8, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455725
14.
Compensation for chronic oxidative stress in ALADIN null mice.
Biol Open
; 7(1)2018 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29362278
15.
Stretching on chromosomes sheds light on their architecture.
Signal Transduct Target Ther
; 7(1): 295, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999202
16.
Identification of a novel putative interaction partner of the nucleoporin ALADIN.
Biol Open
; 5(11): 1697-1705, 2016 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27754849
17.
Computational analysis of liquid chromatography-tandem mass spectrometric steroid profiling in NCI H295R cells following angiotensin II, forskolin and abiraterone treatment.
J Steroid Biochem Mol Biol
; 155(Pt A): 67-75, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26435452
18.
Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.
PLoS One
; 10(4): e0124582, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25867024