Myelin like electrogenic filamentation and Liquid Microbial Fuel Cells Dataset

Autor: Emilio D'Ugo, Lucia Bertuccini, Francesca Spadaro, Roberto Giuseppetti, Francesca Iosi, Fabio Santavenere, Fausto Giuliani, Milena Bruno, Nicola Lovecchio, Silvia Gioacchini, Paola Bucci, Emilia Stellacci, Antonietta Bernardo, Arghya Mukherjee, Fabio Magurano

Publikováno v: Data in Brief, Vol 43, Iss , Pp 108447- (2022)

Biofilm at water-oil interface of hypoxic water columns of microcosms, prepared from a lacustrine sample, that used diesel as a carbon source was found to show electrogenic properties. These microcosms named, Liquid Microbial Fuel Cells (L-MFCs) were

Externí odkaz: https://doaj.org/article/45d32f575a60456f933c8dc2168be75d

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

Autor: Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia, Viviana Cordeddu

Publikováno v: International Journal of Molecular Sciences. 23:14656

Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and variable onset

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e405159d70bec56e861a5f65c44f645d
https://doi.org/10.3390/ijms232314656

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies

Autor: Emilia Stellacci, Marco Tartaglia, Fabrizio De Benedetti, Sabina Barresi, Simone Pizzi, Giuliano Torre, Gian Marco Moneta, Antonella Insalaco, Alessandro Bruselles

Publikováno v: Clinical Genetics. 96:585-589

Signal Transducer and Activator of Transcription 1 (STAT1) is a DNA-binding signal transducer that regulates transcription of specific genes in response to IFNγ and IFNα/β stimulation. Loss-of-function mutations impairing STAT1 activity are known

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6725bd5129fef946006850ff53678923
https://doi.org/10.1111/cge.13632

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Autor: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler

Publikováno v: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184

AberrantHRAStranscript processing underlies a distinctive phenotype within the RASopathy clinical spectrum

Autor: Mohammad Reza Ahmadian, Stefano Paolacci, Dorit Lev, Ion C. Cirstea, Francesca Pantaleoni, Serena Cecchetti, Alessandra Carè, Antonio Novelli, Marco Tartaglia, Elisabetta Flex, Marialetizia Motta, Lisabianca Bottero, Ilan Linger, Francesca Romana Lepri, Emilia Stellacci

Publikováno v: Human Mutation. 38:798-804

RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in the RAS signaling network. These disorders share

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3291198ebe5711a1f461665aa0e3e15
https://doi.org/10.1002/humu.23224