Detalhe da pesquisa
1.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510646
2.
TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
J Cell Sci
; 133(16)2020 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694168
3.
CRISPR Editing Enables Consequential Tag-Activated MicroRNA-Mediated Endogene Deactivation.
Int J Mol Sci
; 23(3)2022 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163006
4.
Distinct miRNA Signatures and Networks Discern Fetal from Adult Erythroid Differentiation and Primary from Immortalized Erythroid Cells.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807258
5.
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Int J Mol Sci
; 21(5)2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111095
6.
Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) ß-Thalassemia.
Int J Mol Sci
; 21(18)2020 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933098
7.
57Fe enrichment in mice for ß-thalassaemia studies via Mössbauer spectroscopy of blood samples.
Eur Biophys J
; 48(7): 635-643, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302726
8.
Suitability of small diagnostic peripheral-blood samples for cell-therapy studies.
Cytotherapy
; 19(2): 311-326, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28088294
9.
A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells.
Cell Mol Life Sci
; 73(1): 163-84, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26153462
10.
Sex-specific transcriptional profiles identified in ß-thalassemia patients.
Haematologica
; 106(4): 1207-1211, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817281
11.
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis.
Cell Mol Life Sci
; 71(3): 517-38, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23807208
12.
Correction of IVS I-110(G>A) ß-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells.
Haematologica
; 104(11): e497-e501, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004018
13.
Context base editing for splice correction of IVSI-110 ß-thalassemia.
Mol Ther Nucleic Acids
; 35(2): 102183, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38706633
14.
A minimal set of SNPs for the noninvasive prenatal diagnosis of ß-thalassaemia.
Ann Hum Genet
; 77(2): 115-24, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362932
15.
Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores ß-globin levels in a novel cell model and acts as mono- and combination therapy for ß-thalassemia in primary hematopoietic stem cells.
Haematologica
; 103(9): e419-e423, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700171
16.
High-efficiency editing in hematopoietic stem cells and the HUDEP-2 cell line based on in vitro mRNA synthesis.
Front Genome Ed
; 5: 1141618, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36969374
17.
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of ß-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference.
Cells
; 12(24)2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132168
18.
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi.
Mol Ther Nucleic Acids
; 34: 102066, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38034032
19.
hCINAP is an atypical mammalian nuclear adenylate kinase with an ATPase motif: structural and functional studies.
Proteins
; 80(1): 206-20, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22038794
20.
Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies.
Pharmaceutics
; 14(4)2022 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456627