Results 101 to 110 of about 259,520 (336)

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. [PDF]

, 2017
Precise genetic modifications in model animals are essential for biomedical research. Here, we report a programmable "base editing" system to induce precise base conversion with high efficiency in zebrafish. Using cytidine deaminase fused to Cas9 nickase,
Bai, Haipeng, Huang, Haigen, Li, Song, Lin, Shuo, Lu, Xiaochan, Qin, Wei, Xu, Jason, Zhang, Yihan   +7 more
core   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

CRISPR/Cas9‐Assisted Microrobots for Fast and Ultrasensitive “On‐The‐Fly” Next‐Generation DNA Detection

Advanced Functional Materials, EarlyView.
This work presents self‐propelled CRISPR/Cas9‐functionalized Au–MRs for rapid, amplification‐free, “on‐the‐fly” DNA detection. By harnessing motion‐assisted signal recovery, the platform achieved the limit of detection in low fM DNA concentrations, enabling detection across a wide dynamic range within only 5 min, which is significantly faster than any ...
Jyoti, Petr Michálek, Zbyněk Heger, Martin Pumera   +3 more
wiley   +1 more source

Combinatorial CRISPR-Cas9 screens for de novo mapping of genetic interactions. [PDF]

, 2017
We developed a systematic approach to map human genetic networks by combinatorial CRISPR-Cas9 perturbations coupled to robust analysis of growth kinetics.
A Baryshnikova, A Baryshnikova, A DeLean, Aaron N Chang, AE Briner, Alex N Beckett, Alex Thomas, AM Kabadi, Amanda Birmingham, Ana Bojorquez-Gomez, ASL Wong, Assen Roguev, B Vogelstein, C Laufer, Chih-Chung Kuo, CJ Lord, Dan Du, Daniel Pekin, Dongxin Zhao, F Lori, H Xu, J Shi, Jason F Kreisberg, JD Storey, Jens Luebeck, JG Doench, John Paul Shen, Katherine Licon, Kristin Klepper, KS Pollard, Kyle Salinas Sanchez, L Avery, LA Gilbert, Lei Qi, M Costanzo, M Martin, MC Bassik, MS Neshat, Nathan E Lewis, NE Sanjana, Nevan Krogan, NJ Krogan, P Mali, P Mali, Prashant Mali, R Chari, R Mani, R Srivas, Roman Sasik, S Bandyopadhyay, SR Collins, T Hart, T Horn, Trey Ideker, VG Tusher, Y Benjamini, Y Dang   +56 more
core   +1 more source

4D Mapping of ZIF Biocomposites for High Protein Loading and Tunable Release Profiles

Advanced Functional Materials, EarlyView.
Systematic four‐dimensional mapping of zeolitic imidazolate framework biocomposites reveals how precursor ratios, total concentration, and washing define crystalline phase, protein loading, and release kinetics. This comprehensive study identifies conditions yielding record loading (∼85%) and precise phase–property correlations.
Michael R. Hafner, Francesco Carraro, Behnaz Abbasgholi‐NA, Simone Dal Zilio, Max Schmallegger, Helmar Wiltsche, Lingcong Ge, Michael R. Reithofer, Efwita Astria, Laura Villanova, Heinz Amenitsch, Christian Doonan, Paolo Falcaro   +12 more
wiley   +1 more source

Evaluation of behavior in transgenic mouse models to understand human congenital pain conditions [PDF]

, 2018
BACKGROUND: Containing a brain for signal processing and decision making, and a peripheral component for sensation and response, the nervous system provides higher organisms a powerful method of interacting with their environment.
Bullock, Daniel
core  

CRISPR/Cas9-mediated editing of the TM6 MADS-box gene in the octoploid strawberry (Fragaria x ananassa) [PDF]

, 2018
El contenido del poster presentado está desarrollado en: doi:10.1093/jxb/ery400 y Publicado por Oxford University pressThe B-class of MADS-box transcription factors has been studied in many plant species, but remain functionally uncharacterized in the
Martín-Pizarro, Carmen, Posé, David, posé-padilla, Triviño, Juan Carlos   +3 more
core   +3 more sources