Publicaciones (21) Publicaciones de DAVID JOSE SANZ SAN JOSE

2023

  1. Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing

    Molecular Therapy - Methods and Clinical Development, Vol. 31

  2. Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X

    Human molecular genetics, Vol. 32, Núm. 23, pp. 3237-3248

2022

  1. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation

    Journal of Cystic Fibrosis, Vol. 21, Núm. 1, pp. 181-187

2019

  1. Minigene Assay to Evaluate CRISPR/Cas9-based Excision of Intronic Mutations that Cause Aberrant Splicing in Human Cells

    Bio-protocol, Vol. 9, Núm. 11

2018

  1. Gene Editing of Stem Cells to Model and Treat Disease

    Current Stem Cell Reports, Vol. 4, Núm. 3, pp. 253-263

2017

  1. Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

    PLoS ONE, Vol. 12, Núm. 9

  2. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    PLoS Genetics, Vol. 13, Núm. 3

2016

  1. Impact of gene editing on the study of cystic fibrosis

    Human Genetics, Vol. 135, Núm. 9, pp. 983-992

  2. Toxicity and genotoxicity of metal and metal oxide nanomaterials: A general introduction

    Handbook of Clinical Nanomedicine: Law, Business, Regulation, Safety, and Risk (Pan Stanford Publishing Pte. Ltd.), pp. 901-929

2014

  1. Potential impact of metal oxide nanoparticles on the immune system: The role of integrins, L-selectin and the chemokine receptor CXCR4

    Nanomedicine: Nanotechnology, Biology, and Medicine, Vol. 10, Núm. 6, pp. 1301-1310

  2. Toxicity and genotoxicity of metal and metal oxide nanomaterials: A general introduction

    Horizons in Clinical Nanomedicine (Pan Stanford Publishing Pte. Ltd.), pp. 289-316

2013

  1. Layer by layer surface engineering of poly (lactide-co-glycolide) nanoparticles: A versatile tool for nanoparticle engineering for targeted drug delivery

    Science China Chemistry, Vol. 56, Núm. 8, pp. 1029-1039

  2. Lipid layer engineering of poly(lactide-co-glycolide) nanoparticles to control their uptake and intracellular co-localisation

    Journal of Materials Chemistry B, Vol. 1, Núm. 17, pp. 2252-2259

  3. Poly(Lactide-co-Glycolide) Nanoparticles, Layer by Layer Engineered for the Sustainable Delivery of AntiTNF-α

    Macromolecular Bioscience, Vol. 13, Núm. 7, pp. 903-912

2012

  1. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

    Breast Cancer Research, Vol. 14, Núm. 3

2011

  1. Stepwise surface tailoring of carbon nanotubes with polyelectrolyte brushes and lipid layers to control their intracellular distribution and "in vitro" toxicity

    Soft Matter, Vol. 7, Núm. 15, pp. 6883-6890

2010

  1. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients

    Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967

  2. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

  3. Two founder BRCA2 mutations predispose to breast cancer in young women

    Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571

2009

  1. A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR

    European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493