Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response

Authors: Martina Esposito, Francesca Minnai, Massimiliano Copetti, Giuseppe Miscio, Rita Perna, Ada Piepoli, Gabriella De Vincentis, Mario Benvenuto, Paola D’Addetta, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Chiara Fallerini, Raffaella Brugnoni, Paola Cavalcante, Fulvio Baggi, Elena Maria Grazia Corsini, Emilio Ciusani, Francesca Andreetta, Tommaso A. Dragani, Maddalena Fratelli, Massimo Carella, Renato E. Mantegazza, Alessandra Renieri, Francesca Colombo

Source: Communications Medicine, Vol 4, Iss 1, Pp 1-7 (2024)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2730-664X

Access URL: https://doaj.org/article/f2ddf483171b44c8a0f1ce4d0ef108aa

De novo assembly and annotation of Popillia japonica’s genome with initial clues to its potential as an invasive pest

Authors: Claudio Cucini, Sara Boschi, Rebecca Funari, Elena Cardaioli, Nicola Iannotti, Giovanni Marturano, Francesco Paoli, Mirella Bruttini, Antonio Carapelli, Francesco Frati, Francesco Nardi

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)

Subject Terms: Beetles, Invasive species, Japanese beetle, Odorant receptors, Ionotropic receptors, Gustatory receptors, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/8e98c7c3fd3244f9ac4a26be4981632f

A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Authors: Francesca Minnai, Filippo Biscarini, Martina Esposito, Tommaso A. Dragani, Luis Bujanda, Souad Rahmouni, Marta E. Alarcón-Riquelme, David Bernardo, Elena Carnero-Montoro, Maria Buti, Hugo Zeberg, Rosanna Asselta, Manuel Romero-Gómez, GEN-COVID Multicenter Study, Israel Fernandez-Cadenas, Chiara Fallerini, Kristina Zguro, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Simone Furini, Alessandra Renieri, Francesca Colombo

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/720db8359dd141d598d5bfa82cb29689

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

Authors: Gabriele Martelloni, Alessio Turchi, Chiara Fallerini, Andrea Degl’Innocenti, Margherita Baldassarri, Simona Olmi, Simone Furini, Alessandra Renieri, GEN-COVID Multicenter study, Francesca Mari, Sergio Daga, Ilaria Meloni, Mirella Bruttini, Susanna Croci, Mirjam Lista, Debora Maffeo, Elena Pasquinelli, Giulia Brunelli, Kristina Zguro, Viola Bianca Serio, Enrica Antolini, Simona Letizia Basso, Samantha Minetto, Giulia Rollo, Martina Rozza, Angela Rina, Rossella Tita, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Arianna Emiliozzi, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Maria Lorubbio, Alessandro Pancrazzi, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Raffaele Bruno, Marco Vecchia, Marcello Maffezzoni, Enrico Martinelli, Massimo Girardis, Stefano Busani, Sophie Venturelli, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Carlo Pallotto, Saverio Giuseppe Parisi, Monica Basso, Sandro Panese, Stefano Baratti, Pier Giorgio Scotton, Francesca Andretta, Mario Giobbia, Renzo Scaggiante, Francesca Gatti, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Alex Di Florio, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Cristina Mussini, Luisa Tavecchia, Lia Crotti, Gianfranco Parati, Roberto Menè, Maurizio Sanarico, Marco Gori, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Tiziana Bachetti, Maria Teresa La Rovere, Maurizio Bussotti, Serena Ludovisi, Katia Capitani, Simona Dei, Sabrina Ravaglia, Annarita Giliberti, Giulia Gori, Rosangela Artuso, Elena Andreucci, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Giulia Micheli, Marco Falcone, Donato Urso, Giusy Tiseo, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Alessio Bellucci, Marta Colaneri, Patrizia Casprini, Cristoforo Pomara, Massimiliano Esposito, Roberto Leoncini, Michele Cirianni, Lucrezia Galasso, Marco Antonio Bellini, Chiara Gabbi, Nicola Picchiotti

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: COVID-19, host genetics, integrated polygenic score, genetic algorithm, logistic regression, genetic science modeling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1362469/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/2ccef210408b4a0bb20150b784f90208

MET is a new confirmed gene responsible for familial distal arthrogryposis

Authors: Debora Maffeo, Anna Carrer, Angela Rina, Loredaria Adamo, Caterina Lo Rizzo, Mirella Bruttini, Alessandra Renieri, Francesca Mari

Source: EMBO Molecular Medicine, Vol 16, Iss 4, Pp 720-722 (2024)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/02c70a46bc814679a81d82615009ac34

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

Authors: Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: spondyloocular syndrome (SOS), xylosyltransferase II, Exome Sequencing (ES), skeletal dysplasia, XYLT2, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1143795/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/095c04efe42e4eae9a4b3bd5420fe118

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Authors: Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: spondyloocular syndrome (SOS), xylosyltransferase II, exome sequencing (ES), skeletal dysplasia, XYLT2, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.761264/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/f0f0382478784a97b012b7d2f97d62f2

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes

Authors: Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, GEN-COVID Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini

Source: Cells, Vol 11, Iss 24, p 4096 (2022)

Subject Terms: COVID-19, CFTR complex alleles, post-Mendelian model, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/24/4096; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/ec2742f9cbc749dbb444c8844510be5c

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Authors: Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Sara Resciniti, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Francesca Fava, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Azienda Usl Toscana Sud Est, Francesca Mari, Alessandra Renieri, Francesca Ariani

Source: Frontiers in Oncology, Vol 11 (2021)

Subject Terms: BRCA1, BRCA2, cancer susceptibility genes, HBOC, ES (Exome Sequencing), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.740860/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/222765f2d69c44eba94a222ef417898e

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Authors: Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Sara Resciniti, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Francesca Fava, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Francesca Mari, Alessandra Renieri, Francesca Ariani, Alessandro Neri, Donato Casella, Andrea Bernini, Stefania Marsili, Roberto Petrioli, Salvatora Tindara Miano, Alessandra Pascucci, Ignazio Martellucci, Monica Crociani, Marta Vannini, Federica Fantozzi, Andrea Stella, Alessia Carmela Tripodi, Angelamaria Giusti, Alfonso Fausto, Lucia Mantovani, Francesca Belardi

Source: Frontiers in Oncology, Vol 11 (2021)

Subject Terms: BRCA1, BRCA2, cancer susceptibility genes, HBOC, ES (Exome Sequencing), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.649435/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/ca4532e26c24440eb12237fb2fc7eb0a

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Authors: Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Dominguez-Garrido, Laura Planas-Serra, Agatha Schlüter, Roger Colobran, Pere Soler-Palacin, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari

Source: EBioMedicine, Vol 65, Iss , Pp 103246- (2021)

Subject Terms: Androgen receptor gene, Testosterone, COVID-19, LASSO logistic regression, WES, Viral infection and host genome, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396421000396; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/755194159e9949cfb57fea4a9a65f5ea

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

Authors: Antonio Mastrangelo, Marisa Giani, Elena Groppali, Pierangela Castorina, Giulia Soldà, Michela Robusto, Chiara Fallerini, Mirella Bruttini, Alessandra Renieri, Giovanni Montini

Source: Frontiers in Medicine, Vol 7 (2020)

Subject Terms: Alport syndrome (AS), genotype phenotype correlation, female, X-linked, proteinuria, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2020.580376/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/fc4808e127214e98ab6831c54ce55bc1

Clinical and molecular characterization of COVID-19 hospitalized patients

Authors: Elisa Benetti, Annarita Giliberti, Arianna Emiliozzi, Floriana Valentino, Laura Bergantini, Chiara Fallerini, Federico Anedda, Sara Amitrano, Edoardo Conticini, Rossella Tita, Miriana d’Alessandro, Francesca Fava, Simona Marcantonio, Margherita Baldassarri, Mirella Bruttini, Maria Antonietta Mazzei, Francesca Montagnani, Marco Mandalà, Elena Bargagli, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari, Giordano Madeddu

Source: PLoS ONE, Vol 15, Iss 11 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673557/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/f468ad34ef924d4fbb9d6e81e0bcccbc

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

Authors: Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

Source: Brain Sciences, Vol 11, Iss 7, p 936 (2021)

Subject Terms: exome sequencing, intellectual disability, autism spectrum disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3425/11/7/936; https://doaj.org/toc/2076-3425

Access URL: https://doaj.org/article/77d89f1e812f4b4c95ba2a9efed2e55e

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Authors: Elena Marcocci, Vera Uliana, Mirella Bruttini, Rosangela Artuso, Margherita Cirillo Silengo, Marlenka Zerial, Franco Bergesio, Antonio Amoroso, Silvana Savoldi, Marco Pennesi, Daniela Giachino, Giuseppe Rombolà, Giovanni Battista Fogazzi, Cristina Rosatelli, Ciro Dresch Martinhago, Mario Carmellini, Roberta Mancini, Giuseppina Di Costanzo, Ilaria Longo, Alessandra Renieri

Source: Nephrology Dialysis Transplantation; May2009, Vol. 24 Issue 5, p1464-1464, 1p

Subject Terms: ALPORT syndrome, HEALTH outcome assessment, KIDNEY diseases, MOLECULAR diagnosis, HIGH performance liquid chromatography, DIFFERENTIAL diagnosis, GENETICS