Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

Autor: Leonardo Salviati, Bruno Dallapiccola, Emanuele Agolini, Daniela Zuccarello, Antonio Novelli, Enrico Grosso, Simone Martinelli, Eva Trevisson, Valeria Morbidoni, Kevin C. Slep, Matteo Cassina, Giorgia Gai, Luca Pannone

Publikováno v: Journal of Medical Genetics. 58:526-533

BackgroundDysfunction in non-motile cilia is associated with a broad spectrum of developmental disorders characterised by clinical heterogeneity. While over 100 genes have been associated with primary ciliopathies, with wide phenotypic overlap, some

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f894db24b15490efc2db747232e1063
https://doi.org/10.1136/jmedgenet-2020-106833

Biallelic mutations in the

Autor: Valeria, Morbidoni, Emanuele, Agolini, Kevin C, Slep, Luca, Pannone, Daniela, Zuccarello, Matteo, Cassina, Enrico, Grosso, Giorgia, Gai, Leonardo, Salviati, Bruno, Dallapiccola, Antonio, Novelli, Simone, Martinelli, Eva, Trevisson

Publikováno v: Journal of medical genetics. 58(8)

Dysfunction in non-motile cilia is associated with a broad spectrum of developmental disorders characterised by clinical heterogeneity. While over 100 genes have been associated with primary ciliopathies, with wide phenotypic overlap, some patients s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1dea273b33025ef3b0c4c809ea6f4ddf
https://pubmed.ncbi.nlm.nih.gov/32747439

Global assessment of marine plastic exposure risk for oceanic birds

Autor: Bethany L. Clark, Ana P. B. Carneiro, Elizabeth J. Pearmain, Marie-Morgane Rouyer, Thomas A. Clay, Win Cowger, Richard A. Phillips, Andrea Manica, Carolina Hazin, Marcus Eriksen, Jacob González-Solís, Josh Adams, Yuri V. Albores-Barajas, Joanna Alfaro-Shigueto, Maria Saldanha Alho, Deusa Teixeira Araujo, José Manuel Arcos, John P. Y. Arnould, Nadito J. P. Barbosa, Christophe Barbraud, Annalea M. Beard, Jessie Beck, Elizabeth A. Bell, Della G. Bennet, Maud Berlincourt, Manuel Biscoito, Oskar K. Bjørnstad, Mark Bolton, Katherine A. Booth Jones, John J. Borg, Karen Bourgeois, Vincent Bretagnolle, Joël Bried, James V. Briskie, M. de L. Brooke, Katherine C. Brownlie, Leandro Bugoni, Licia Calabrese, Letizia Campioni, Mark J. Carey, Ryan D. Carle, Nicholas Carlile, Ana R. Carreiro, Paulo Catry, Teresa Catry, Jacopo G. Cecere, Filipe R. Ceia, Yves Cherel, Chang-Yong Choi, Marco Cianchetti-Benedetti, Rohan H. Clarke, Jaimie B. Cleeland, Valentina Colodro, Bradley C. Congdon, Jóhannis Danielsen, Federico De Pascalis, Zoe Deakin, Nina Dehnhard, Giacomo Dell’Omo, Karine Delord, Sébastien Descamps, Ben J. Dilley, Herculano A. Dinis, Jerome Dubos, Brendon J. Dunphy, Louise M. Emmerson, Ana Isabel Fagundes, Annette L. Fayet, Jonathan J. Felis, Johannes H. Fischer, Amanda N. D. Freeman, Aymeric Fromant, Giorgia Gaibani, David García, Carina Gjerdrum, Ivandra Soeli Gonçalves Correia Gomes, Manuela G. Forero, José P. Granadeiro, W. James Grecian, David Grémillet, Tim Guilford, Gunnar Thor Hallgrimsson, Luke R. Halpin, Erpur Snær Hansen, April Hedd, Morten Helberg, Halfdan H. Helgason, Leeann M. Henry, Hannah F. R. Hereward, Marcos Hernandez-Montero, Mark A. Hindell, Peter J. Hodum, Simona Imperio, Audrey Jaeger, Mark Jessopp, Patrick G. R. Jodice, Carl G. Jones, Christopher W. Jones, Jón Einar Jónsson, Adam Kane, Sven Kapelj, Yuna Kim, Holly Kirk, Yann Kolbeinsson, Philipp L. Kraemer, Lucas Krüger, Paulo Lago, Todd J. Landers, Jennifer L. Lavers, Matthieu Le Corre, Andreia Leal, Maite Louzao, Jeremy Madeiros, Maria Magalhães, Mark L. Mallory, Juan F. Masello, Bruno Massa, Sakiko Matsumoto, Fiona McDuie, Laura McFarlane Tranquilla, Fernando Medrano, Benjamin J. Metzger, Teresa Militão, William A. Montevecchi, Rosalinda C. Montone, Leia Navarro-Herrero, Verónica C. Neves, David G. Nicholls, Malcolm A. C. Nicoll, Ken Norris, Steffen Oppel, Daniel Oro, Ellie Owen, Oliver Padget, Vítor H. Paiva, David Pala, Jorge M. Pereira, Clara Péron, Maria V. Petry, Admilton de Pina, Ariete T. Moreira Pina, Patrick Pinet, Pierre A. Pistorius, Ingrid L. Pollet, Benjamin J. Porter, Timothée A. Poupart, Christopher D. L. Powell, Carolina B. Proaño, Júlia Pujol-Casado, Petra Quillfeldt, John L. Quinn, Andre F. Raine, Helen Raine, Iván Ramírez, Jaime A. Ramos, Raül Ramos, Andreas Ravache, Matt J. Rayner, Timothy A. Reid, Gregory J. Robertson, Gerard J. Rocamora, Dominic P. Rollinson, Robert A. Ronconi, Andreu Rotger, Diego Rubolini, Kevin Ruhomaun, Asunción Ruiz, James C. Russell, Peter G. Ryan, Sarah Saldanha, Ana Sanz-Aguilar, Mariona Sardà-Serra, Yvan G. Satgé, Katsufumi Sato, Wiebke C. Schäfer, Stefan Schoombie, Scott A. Shaffer, Nirmal Shah, Akiko Shoji, Dave Shutler, Ingvar A. Sigurðsson, Mónica C. Silva, Alison E. Small, Cecilia Soldatini, Hallvard Strøm, Christopher A. Surman, Akinori Takahashi, Vikash R. V. Tatayah, Graeme A. Taylor, Robert J. Thomas, David R. Thompson, Paul M. Thompson, Thorkell L. Thórarinsson, Diego Vicente-Sastre, Eric Vidal, Ewan D. Wakefield, Susan M. Waugh, Henri Weimerskirch, Heiko U. Wittmer, Takashi Yamamoto, Ken Yoda, Carlos B. Zavalaga, Francis J. Zino, Maria P. Dias

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)

Abstract Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial

Externí odkaz: https://doaj.org/article/56773c26a1074a7abc72110b0e673856

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

Autor: Enrico Grosso, Elisa Giorgio, Marisa Ribotta, Alfredo Brusco, Patrizia Pappi, Elisa Savin, Elsa Viora, Barbara Pasini, Alessandro Brussino, F. Talarico, Andrea Zonta, Giorgia Gai, Simona Cavalieri, Giovanni Battista Ferrero, Alessandro Calcia, Cecilia Mancini, Eleonora Di Gregorio, Gabriella Restagno, Giovanni Botta

Publikováno v: Cytogenetic and Genome Research. 147:10-16

Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39%

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c440f21408fc1f55e96ddbb9f11661ef
https://doi.org/10.1159/000442308

Low-intensity Extracorporeal Shockwave Therapy for the Management of Postprostatectomy Erectile Dysfunction: A Systematic Review of the Literature

Autor: Maria Chiara Sighinolfi, Ahmed Eissa, Carlo Bellorofonte, Alessandro Mofferdin, Mosaab Eldeeb, Simone Assumma, Enrico Panio, Tommaso Calcagnile, Daniele Stroppa, Giorgio Bozzini, Giorgia Gaia, Stefano Terzoni, Mattia Sangalli, Salvatore Micali, Bernardo Rocco

Publikováno v: European Urology Open Science, Vol 43, Iss , Pp 45-53 (2022)

Context: Erectile dysfunction (ED) following radical prostatectomy is a concern for patients and their partners. Low-intensity extracorporeal shockwave therapy (LI-ESWT) can potentially enhance tissue repair and regeneration. The aim of the current s

Externí odkaz: https://doaj.org/article/e5a2e92367e742dab64c43694c9f04a4