Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Vera Uliana"'
Autor:
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-12 (2024)
Abstract Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s
Externí odkaz:
https://doaj.org/article/18d73d17a527428b9867a1ae6e70c7b1
Autor:
Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco, Marco Castori, Davide Martorana, Beatrice Bortesi, Laura Belli, Antonio Percesepe, Francesco Pisani, Valeria Barili
Publikováno v:
Genes, Vol 15, Iss 7, p 916 (2024)
Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins
Externí odkaz:
https://doaj.org/article/4c573e6da5cd499180db11cd6e37b2e5
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
Autor:
Valeria Barili, Enrico Ambrosini, Beatrice Bortesi, Roberta Minari, Erika De Sensi, Ilenia Rita Cannizzaro, Antonietta Taiani, Maria Michiara, Angelica Sikokis, Daniela Boggiani, Chiara Tommasi, Olga Serra, Francesco Bonatti, Alessia Adorni, Anita Luberto, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Antonino Musolino, Benedetta Pellegrino
Publikováno v:
Genes, Vol 15, Iss 2, p 219 (2024)
Germline variants occurring in BRCA1 and BRCA2 give rise to hereditary breast and ovarian cancer (HBOC) syndrome, predisposing to breast, ovarian, fallopian tube, and peritoneal cancers marked by elevated incidences of genomic aberrations that corres
Externí odkaz:
https://doaj.org/article/aebaf8fb07064b2eb25900a08e3f9225
Autor:
Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1654 (2024)
Charcot–Marie–Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero (MPZ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ-relat
Externí odkaz:
https://doaj.org/article/de743b1280724061b40a0977799fd62b
Autor:
Walter Serra, Giulia Vitetta, Vera Uliana, Federico Barocelli, Valeria Barili, Isabella Allegri, Diego Ardissino, Francesca Gualandi, Antonio Percesepe
Publikováno v:
Heliyon, Vol 8, Iss 12, Pp e12373- (2022)
Background: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with great
Externí odkaz:
https://doaj.org/article/6b6bd0c7d7e543a2a9a15df01c6b3f9c
Autor:
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Publikováno v:
Genes, Vol 14, Iss 6, p 1241 (2023)
Novel approaches to uncover the molecular etiology of neurodevelopmental disorders (NDD) are highly needed. Even using a powerful tool such as whole exome sequencing (WES), the diagnostic process may still prove long and arduous due to the high clini
Externí odkaz:
https://doaj.org/article/71520baac815463081c6dd306c9eb933
Autor:
Chiara Tommasi, Benedetta Pellegrino, Daniela Boggiani, Angelica Sikokis, Maria Michiara, Vera Uliana, Beatrice Bortesi, Francesco Bonatti, Paola Mozzoni, Silvana Pinelli, Anna Squadrilli, Maria Vittoria Viani, Diana Cassi, Giuseppe Maglietta, Marco Meleti, Antonino Musolino
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Women with pathogenic germline mutations in BRCA1 and BRCA2 genes have an increased risk to develop breast and ovarian cancer. There is, however, a high interpersonal variability in the modality and timing of tumor onset in those subjects, thus sugge
Externí odkaz:
https://doaj.org/article/7bcdb9fa7a9a443ca94fd90f33499cc4
Autor:
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes,
Externí odkaz:
https://doaj.org/article/59cf0196e904451d9b61b03c84ea41f4
Autor:
Anna Maria Militello, Teresa Zielli, Daniela Boggiani, Maria Michiara, Nadia Naldi, Beatrice Bortesi, Paola Zanelli, Vera Uliana, Sara Giuliotti, Antonino Musolino
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Sensitivity to endocrine therapy of patients with estrogen receptor (ER)-positive metastatic breast cancer and germline BRCA1/2 mutations is not yet fully elucidated. Furthermore, the registration trials of CDK 4/6 inhibitors in combination with endo
Externí odkaz:
https://doaj.org/article/400b5d8ca9a14a24b36de58980dd7704