Search Results - "Caligo, Maria Adelaide"

Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis by Wu, Jian‐Yu, Vlastos, Anne‐Therese, Pelte, Marie‐Françoise, Caligo, Maria‐Adelaide, Bianco, Andrea, Krause, Karl‐Heinz, Laurent, Geoffrey J., Irminger‐Finger, Irmgard

“…Mutations in tumor‐suppressor gene BARD1 have been found in inherited and spontaneous breast, ovarian and uterine cancers. BARD1 plays a critical role in DNA…”
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Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast by Galli, Alvaro, Bellè, Francesca, Fargnoli, Arcangelo, Caligo, Maria Adelaide, Cervelli, Tiziana

“…, a crucial tumor suppressor gene, has several splicing isoforms, including Δ9-11, Δ11, and Δ11q, which lack exon 11, coding for significant portions of the…”
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Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants by Bellè, Francesca, Mercatanti, Alberto, Lodovichi, Samuele, Congregati, Caterina, Guglielmi, Chiara, Tancredi, Mariella, Caligo, Maria Adelaide, Cervelli, Tiziana, Galli, Alvaro

“…Germline mutations in the BRCA1 gene have been reported to increase the lifetime risk of developing breast and/or ovarian cancer (BOC). By new sequencing…”
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The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times by Aretini, Paolo, Presciuttini, Silvano, Pastore, Aldo, Galli, Alvaro, Panepinto, Sara, Tancredi, Mariella, Ghilli, Matteo, Guglielmi, Chiara, Sidoti, Diletta, Congregati, Caterina, Caligo, Maria Adelaide

“…Approximately 30–50% of hereditary breast and ovarian cancer (HBOC) is due to the presence of germline pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2…”
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The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report by Dinoi, Elisa, Prete, Alessandro, Sardella, Chiara, Pierotti, Laura, Della Valentina, Simone, Dal Lago, Anna, Borsari, Simona, Pardi, Elena, Caligo, Maria Adelaide, Michelucci, Angela, Torregrossa, Liborio, Rossi, Piercarlo, Cetani, Filomena

“…Background Brown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple…”
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Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome by Pierotti, Laura, Pardi, Elena, Dinoi, Elisa, Piaggi, Paolo, Borsari, Simona, Della Valentina, Simone, Sardella, Chiara, Michelucci, Angela, Caligo, Maria Adelaide, Bogazzi, Fausto, Marcocci, Claudio, Cetani, Filomena

“…Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of gene and characterized by a combination of several endocrine and…”
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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions by Guglielmi, Chiara, Scarpitta, Rosa, Gambino, Gaetana, Conti, Eleonora, Bellè, Francesca, Tancredi, Mariella, Cervelli, Tiziana, Falaschi, Elisabetta, Cosini, Cinzia, Aretini, Paolo, Congregati, Caterina, Marino, Marco, Patruno, Margherita, Pilato, Brunella, Spina, Francesca, Balestrino, Luisa, Tenedini, Elena, Carnevali, Ileana, Cortesi, Laura, Tagliafico, Enrico, Tibiletti, Maria Grazia, Tommasi, Stefania, Ghilli, Matteo, Vivanet, Caterina, Galli, Alvaro, Caligo, Maria Adelaide

“…With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified…”
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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report by Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo

“…Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic…”
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Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review by Bertolucci, Giulia, Tyutyusheva, Nina, Sepich, Margherita, Baldinotti, Fulvia, Caligo, Maria Adelaide, Sessa, Maria Rita, Peroni, Diego Giampiero, Bertelloni, Silvano

“…Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of…”
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Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome by Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide

“…Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the…”
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Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A , and MSH6 Somatic Variants in Cancer Development by Maresca, Luisa, Lodovichi, Samuele, Lorenzoni, Alessandra, Cervelli, Tiziana, Monaco, Rossella, Spugnesi, Laura, Tancredi, Mariella, Falaschi, Elisabetta, Zavaglia, Katia, Landucci, Elisabetta, Roncella, Manuela, Congregati, Caterina, Gadducci, Angiolo, Naccarato, Antonio Giuseppe, Caligo, Maria Adelaide, Galli, Alvaro

“…In this study, we determined if BRCA1 partners involved in DNA double-strand break (DSB) and mismatch repair (MMR) may contribute to breast and ovarian cancer…”
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Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells by Balia, Cristina, Galli, Alvaro, Caligo, Maria Adelaide

“…Breast Cancer 2 gene (BRCA2) mutation carriers have a 45% chance of developing breast cancer and a 11% risk of developing ovarian cancer by the age of 70…”
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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype by Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I, Peroni, Diego G

“…Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex…”
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A Novel Breast Cancer–Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function by De Nicolo, Arcangela, Tancredi, Mariella, Lombardi, Grazia, Flemma, Cristina Chantal, Barbuti, Serena, Di Cristofano, Claudio, Sobhian, Bijan, Bevilacqua, Generoso, Drapkin, Ronny, Caligo, Maria Adelaide

“…Purpose: BRCA1-interacting protein 1 ( BRIP1 ; FANCJ/BACH1 ), which encodes a DNA helicase that interacts with BRCA1, has been suggested to be a low-penetrance…”
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High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis by Lombardi, Grazia, Di Cristofano, Claudio, Capodanno, Alessandra, Iorio, Maria Carla, Aretini, Paolo, Isola, Patrizia, Tancredi, Mariella, Collecchi, Paola, Naccarato, Antonio Giuseppe, Porta, Romana Prosperi, Bevilacqua, Generoso, Caligo, Maria Adelaide

“…BRMS1 is regarded as a metastasis suppressor gene for its ability to reduce metastatic potential of human and murine breast cancer cells as well as human…”
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Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants by Di Cecco, Leontina, Melissari, Erika, Mariotti, Veronica, Iofrida, Caterina, Galli, Alvaro, Guidugli, Lucia, Lombardi, Grazia, Caligo, Maria Adelaide, Iacopetti, Paola, Pellegrini, Silvia

“…Abstract Germline mutations in breast cancer susceptibility gene 1 ( BRCA1 ) confer high risk of developing breast and ovarian cancers. Even though most BRCA1…”
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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers by Laitman, Yael, Kuchenbaecker, Karoline B., Rantala, Johanna, Hogervorst, Frans, Peock, Susan, Godwin, Andrew K., Arason, Adalgeir, Kirchhoff, Tomas, Offit, Kenneth, Isaacs, Claudine, Schmutzler, Rita K., Wappenschmidt, Barbara, Nevanlinna, Heli, Chen, Xiaoqing, Chenevix-Trench, Georgia, Healey, Sue, Couch, Fergus, Peterlongo, Paolo, Radice, Paolo, Nathanson, Katherine L., Caligo, Maria Adelaide, Neuhausen, Susan L., Ganz, Patricia, Sinilnikova, Olga M., McGuffog, Lesley, Easton, Douglas F., Antoniou, Antonis C., Wolf, Ido, Friedman, Eitan

“…Klotho (KL) is a putative tumor suppressor gene in breast and pancreatic cancers located at chromosome 13q12. A functional sequence variant of Klotho (KL-VS)…”
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Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant by Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Semeraro, Antonella, Borsari, Simona, Sardella, Chiara, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

“…Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to…”
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Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review by Cappellani, Daniele, Brancatella, Alessandro, Morganti, Riccardo, Borsari, Simona, Baldinotti, Fulvia, Caligo, Maria Adelaide, Kaufmann, Martin, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

“…Background and objectives CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent…”
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Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types? by Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Borsari, Simona, Piaggi, Paolo, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

“…Abstract Context Human cytochrome P450 24 subfamily A member 1 (CYP24A1) loss-of-function mutations result in impaired activity of the 24-hydroxylase involved…”
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