Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Chiara, Manzini"'
Autor:
Giuseppe Porcellini, Marco Montemagno, Chiara Manzini, Gabriele Fiumana, Andrea Giorgini, Gianmario Micheloni, Luigi Tarallo
Publikováno v:
Journal of Orthopaedics and Traumatology, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background Obstetric brachial plexus injury (OBPI) is a weakening or paralysis of the upper arm caused by brachial plexus injury followed by a muscle paralysis with severe repercussions on the movement of the shoulder joint following a progr
Externí odkaz:
https://doaj.org/article/20a5d999d0e04c65ae2480c6f1f61219
Autor:
Muthukumar Karuppasamy, Katherine G. English, Clarissa A. Henry, M. Chiara Manzini, John M. Parant, Melissa A. Wright, Avnika A. Ruparelia, Peter D. Currie, Vandana A. Gupta, James J. Dowling, Lisa Maves, Matthew S. Alexander
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/4f13b14e9c2a4d84a3835d5d9afdf89d
Autor:
Jenica Acheta, Jiayue Hong, Haley Jeanette, Simrandeep Brar, Anish Yalamanchili, M. Laura Feltri, M. Chiara Manzini, Sophie Belin, Yannick Poitelon
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
BackgroundNumerous studies have indicated that myelination is the result of the interplay between extracellular signals and an intricate network of transcription factors. Yet, the identification and characterization of the full repertoire of transcri
Externí odkaz:
https://doaj.org/article/6164e2ecf76c4132ab4032d311c7f30e
Publikováno v:
Frontiers in Chemistry, Vol 10 (2022)
Understanding the biochemistry of the cell requires measurement of all the molecules it produces. Single-cell proteomics recently became possible through advances in microanalytical sample preparation, separation by nano-flow liquid chromatography (n
Externí odkaz:
https://doaj.org/article/1efe54cd0f7d43bf80bf51443d89b8ad
Autor:
Matteo Florio Furno, Anna Poli, Davide Ferrero, Federica Tardelli, Chiara Manzini, Matteo Oliva, Carlo Pretti, Tommaso Campani, Silvia Casini, Maria Cristina Fossi, Giovanna Cristina Varese, Valeria Prigione
Publikováno v:
Journal of Fungi, Vol 8, Iss 9, p 927 (2022)
Fungi are an essential component of marine ecosystems, although little is known about their global distribution and underwater diversity, especially in sediments. Microplastics (MPs) are widespread contaminants worldwide and threaten the organisms pr
Externí odkaz:
https://doaj.org/article/6cdd2c08679f4ceab7b8410da6d94dc5
Autor:
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogeni
Externí odkaz:
https://doaj.org/article/30bb022ab7354e7990f235b44b44dd59
Akademický článek
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Autor:
Dhyanam Shukla, Brian M. Gural, Edmund S. Cauley, Namarata Battula, Shorbon Mowla, Brittany F. Karas, Llion E. Roberts, Luca Cavallo, Luka Turkalj, Sally A. Moody, Laura E. Swan, M. Chiara Manzini
Publikováno v:
Development Genes and Evolution.
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88e650034247110fa8fb0c8a6fe6399b
https://doi.org/10.1007/s00427-023-00703-z
https://doi.org/10.1007/s00427-023-00703-z
Autor:
Chiara Ardiccioni, Oliver B. Clarke, David Tomasek, Habon A. Issa, Desiree C. von Alpen, Heather L. Pond, Surajit Banerjee, Kanagalaghatta R. Rajashankar, Qun Liu, Ziqiang Guan, Chijun Li, Brian Kloss, Renato Bruni, Edda Kloppmann, Burkhard Rost, M. Chiara Manzini, Lawrence Shapiro, Filippo Mancia
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
Polyisoprenyl-glycosyltransferases (PI-GTs) catalyse the addition of sugar to lipid carriers, which is the first step in the production of sugar donors for glycosylation. Here Ardiccioni et al.present the structure of a bacterial PI-GT and propose a
Externí odkaz:
https://doaj.org/article/22db754dc74e4afeb71d8dce6eff183f
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mu
Externí odkaz:
https://doaj.org/article/df478973ae3a4535b3b5a97bda677f3f