Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Giuseppe Gallone"'
Autor:
Lorenzo Zavagna, Eligio F. Canelli, Bahareh Azimi, Fabiola Troisi, Lorenzo Scarpelli, Teresa Macchi, Giuseppe Gallone, Massimiliano Labardi, Roberto Giovannoni, Mario Milazzo, Serena Danti
Publikováno v:
Macromolecular Materials and Engineering, Vol 309, Iss 10, Pp n/a-n/a (2024)
Abstract Recently, in vitro models emerge as valuable tools in biomedical research by enabling the investigation of complex physiological processes in a controlled environment, replicating some traits of interest of the biological tissues. This study
Externí odkaz:
https://doaj.org/article/dfe743c748ac415fac29a9ccd25a26f4
Autor:
Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from
Externí odkaz:
https://doaj.org/article/8e0772a2bdbe41f584339b04b2c8e9ed
Autor:
Giovanna Strangis, Massimiliano Labardi, Giuseppe Gallone, Mario Milazzo, Simone Capaccioli, Francesca Forli, Patrizia Cinelli, Stefano Berrettini, Maurizia Seggiani, Serena Danti, Paolo Parchi
Publikováno v:
Bioengineering, Vol 11, Iss 2, p 193 (2024)
Bone defects are a significant health problem worldwide. Novel treatment approaches in the tissue engineering field rely on the use of biomaterial scaffolds to stimulate and guide the regeneration of damaged tissue that cannot repair or regrow sponta
Externí odkaz:
https://doaj.org/article/c64b939c05cb4a3a8826d4339c07988d
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-21 (2022)
Abstract Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, base
Externí odkaz:
https://doaj.org/article/3dc8554ea6034c72bfd25e69808f62c1
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Autor:
Luigi Romano, Alberto Portone, Maria-Beatrice Coltelli, Francesco Patti, Rosalba Saija, Maria Antonia Iatì, Giuseppe Gallone, Andrea Lazzeri, Serena Danti, Onofrio M. Maragò, Andrea Camposeo, Dario Pisignano, Luana Persano
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
High-performance and low-cost indicators are important in food and cosmetics industry but market uptake is low due to several challenges such as toxicity, cost and unclear reading. Here, the authors report on optically-programmed, non-colorimetric in
Externí odkaz:
https://doaj.org/article/fd280a6233a24dc68d1315863c2f926b
Autor:
Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Retrotransposition events have been linked to some human disorders. Here, Gardner et al. systematically search for mobile genetic elements (ME) in trio whole exome-sequencing datasets and ascertain 9 de novo MEs and further estimate genome-wide germl
Externí odkaz:
https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
Autor:
Rebecca-Ann B. Burton, Jakub Tomek, Christina M. Ambrosi, Hege E. Larsen, Amy R. Sharkey, Rebecca A. Capel, Alexander D. Corbett, Samuel Bilton, Aleksandra Klimas, Guy Stephens, Maegan Cremer, Samuel J. Bose, Dan Li, Giuseppe Gallone, Neil Herring, Edward O. Mann, Abhinav Kumar, Holger Kramer, Emilia Entcheva, David J. Paterson, Gil Bub
Publikováno v:
iScience, Vol 23, Iss 7, Pp 101334- (2020)
Summary: Cardiac stimulation via sympathetic neurons can potentially trigger arrhythmias. We present approaches to study neuron-cardiomyocyte interactions involving optogenetic selective probing and all-optical electrophysiology to measure activity i
Externí odkaz:
https://doaj.org/article/1bf96b0e36b34140aa42ebc9b7826702
Autor:
M-Hossein Moeinzadeh, Jun Yang, Evgeny Muzychenko, Giuseppe Gallone, David Heller, Knut Reinert, Stefan Haas, Martin Vingron
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 5, p e1007843 (2020)
Reconstructing haplotypes from sequencing data is one of the major challenges in genetics. Haplotypes play a crucial role in many analyses, including genome-wide association studies and population genetics. Haplotype reconstruction becomes more diffi
Externí odkaz:
https://doaj.org/article/fa3a7d2c32c746ac998c1762bf531048
Autor:
Mario Milazzo, Giuseppe Gallone, Elena Marcello, Maria Donatella Mariniello, Luca Bruschini, Ipsita Roy, Serena Danti
Publikováno v:
Journal of Functional Biomaterials, Vol 11, Iss 3, p 60 (2020)
Bacterial colonization of implanted biomedical devices is the main cause of healthcare-associated infections, estimated to be 8.8 million per year in Europe. Many infections originate from damaged skin, which lets microorganisms exploit injuries and
Externí odkaz:
https://doaj.org/article/8853d88fc4e841f7802ca5ec8df94584