David J Sanz
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Explore the profile of David J Sanz including associated specialties, affiliations and a list of published articles.
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13
Citations
232
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0
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Recent Articles
1.
Walker A, Graham C, Greenwood M, Woodall M, Maeshima R, OHara-Wright M, et al.
Mol Ther Methods Clin Dev
. 2023 Nov;
31:101140.
PMID: 38027060
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene. The 10th most common mutation, c.3178-2477C>T (3849+10kb C>T), involves a cryptic, intronic splice site. This mutation...
2.
Vuelta E, Ordonez J, Sanz D, Ballesteros S, Hernandez-Rivas J, Mendez-Sanchez L, et al.
Int J Mol Sci
. 2022 Jun;
23(12).
PMID: 35742831
Chronic myeloid leukaemia (CML) is a haematological neoplasm driven by the fusion oncogene. The monogenic aspect of the disease and the feasibility of ex vivo therapies in haematological disorders make...
3.
Santos L, Mention K, Cavusoglu-Doran K, Sanz D, Bacalhau M, Lopes-Pacheco M, et al.
J Cyst Fibros
. 2021 Jun;
21(1):181-187.
PMID: 34103250
Background: W1282X-CFTR variant (c.3846G>A) is the second most common nonsense cystic fibrosis (CF)-causing mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Even though remarkable breakthroughs have been done...
4.
Sanz D, Harrison P
Bio Protoc
. 2021 Mar;
9(11):e3251.
PMID: 33654776
The construction of Hybrid minigenes provides a robust and simple strategy to study the effects of disease-causing mutations on mRNA splicing when biological material from patient cells is not available....
5.
Romero G, Sanz D, Qiu Y, Yu D, Mao Z, Gao C, et al.
J Mater Chem B
. 2020 Apr;
1(17):2252-2259.
PMID: 32260878
Poly(d,l-lactide-co-glycolide) (PLGA) nanoparticles (NPs) were prepared by an O/W emulsion-solvent evaporation method with polyethyleneimine (PEI) in the water phase as a stabiliser. Layer-by-Layer (LbL) assembly was used to engineer the...
6.
Sanz D, Hollywood J, Scallan M, Harrison P
PLoS One
. 2017 Sep;
12(9):e0184009.
PMID: 28863137
Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. CRISPR mediated, template-dependent homology-directed gene editing has been used to correct the most common mutation, c.1521_1523delCTT...
7.
Fraile-Bethencourt E, Diez-Gomez B, Velasquez-Zapata V, Acedo A, Sanz D, Velasco E
PLoS Genet
. 2017 Mar;
13(3):e1006691.
PMID: 28339459
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for...
8.
Harrison P, Sanz D, Hollywood J
Hum Genet
. 2016 Jun;
135(9):983-92.
PMID: 27325484
Cystic fibrosis (CF) is a chronic and progressive autosomal recessive disorder of secretory epithelial cells, which causes obstructions in the lung airways and pancreatic ducts of 70,000 people worldwide (for...
9.
Romero G, Ochoteco O, Sanz D, Estrela-Lopis I, Donath E, Moya S
Macromol Biosci
. 2013 May;
13(7):903-12.
PMID: 23696518
A strategy of encapsulation of the antiTNF-α antibody on top of poly(lactide-co-glycolide) nanoparticles (PLGA NPs) is presented on the basis of the complexation of antiTNF-α with alginate (Alg) and subsequent...
10.
Acedo A, Sanz D, Duran M, Infante M, Perez-Cabornero L, Miner C, et al.
Breast Cancer Res
. 2012 May;
14(3):R87.
PMID: 22632462
Introduction: The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. We aimed to investigate the effect on splicing...