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121 results on '"Giuffrè L"'

6. Melanoma Immunology

Author

Bystryn, J. C., Kokoschka, E. M., Bröcker, E. B., Reisfeld, R., Ruiter, D. J., Vennegoor, C., Ferrone, S., Cesarini, J., Gaudry, H., Carrel, S., Giuffrè, L., Accolla, R., Isler, P., Zwadlo, G., Macher, E., Sorg, C., Luger, T. A., Köck, A., Vetterlein, M., Micksche, M., Gigli, I., Martin, D. E., Müller-Eberhard, H. J., Orfanos, Constantin E., editor, Stadler, Rudolf, editor, and Gollnick, Harald, editor

Published
1988
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11. Spondylo-costal dysostosis in two siblings

Author

A. La Grutta, S. La Grutta, A. Bianco, Giovanni Corsello, V Benigno, Giuffrè L, La Grutta, A, Corsello, G, Benigno, V, Bianco, A, La Grutta, S, and Giuffrè, L

Subjects
Male, Pathology, medicine.medical_specialty, Ribs, Genes, Recessive, Consanguinity, Recessive inheritance, medicine, Humans, Abnormalities, Multiple, Child, Genetics, Autosomal recessive inheritance, Genetic heterogeneity, business.industry, Rib, Dysostosis, Syndrome, medicine.disease, Spine, Radiography, Parental consanguinity, Pediatrics, Perinatology and Child Health, Trait, Female, Skeletal abnormalities, business, Human
Abstract

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

Published
1992

26. Cri du Chat Syndrome

Author

Cerruti Mainardi, P., Perfumo, C., Pastore, G., Calì, A., Guala, A., Biroli, E., Liverani, M. E., Egidi, I., Zara, F., Zerega, G., Overhauser, J., Pierluigi, M., Dagna Bricarelli, F., Andria, G., Baraldi, A., Boggi, L., Borrone, C., Cammarata, M., Caufin, D., Cavaliere, M. L., Chessa, L., Dallapiccola, B., Di Comite, A., Farina, M., Franceschini, P., Garau, A., Livia Garavelli, Gemme, G., Giannotti, A., Giovannucci, M. L., Giuffrè, L., Lingeri, R., Lomangino, A., Lumini, A., Magistrelli, R., Martinazzi, M., Mattina, T., Mollica, F., Pagano, G., Pagano, M., Palka, G., Pergola, M., Pirastru, M. G., Presta, G., Rinaldi, M. M., Rovetta, G., Sacher, B., Stabile, M., Selicorni, A., Tarani, L., Tarantino, E., Tenconi, R., Valletta, E., Ventruto, V., Vianello, M. G., Vignetti, P., Weber, N., and Zelante, L.

49. Candida auris from the Egyptian cobra: Role of snakes as potential reservoirs.

Author

Cafarchia C, Mendoza-Roldan JA, Rhimi W, C I Ugochukwu I, Miglianti M, Beugnet F, Giuffrè L, Romeo O, and Otranto D

Subjects
Animals, Cloaca microbiology, Sequence Analysis, DNA, DNA, Fungal genetics, Blood microbiology, Snakes microbiology, Elapidae, Egypt, Phylogeny, Candida genetics, Candida classification, Candida isolation & purification, Candida drug effects, Disease Reservoirs microbiology, Candidiasis microbiology, Candidiasis veterinary, DNA, Ribosomal Spacer genetics, DNA, Ribosomal Spacer chemistry
Abstract

Candida auris represents one of the most urgent threats to public health, although its ecology remains largely unknown. Because amphibians and reptiles may present favorable conditions for C. auris colonization, cloacal and blood samples (n = 68), from several snake species, were cultured and molecularly screened for C. auris using molecular amplification of glycosylphosphatidylinositol protein-encoding genes and ribosomal internal transcribed spacer sequencing. Candida auris was isolated from the cloacal swab of one Egyptian cobra (Naja haje legionis) and molecularly identified in its cloaca and blood. The isolation of C. auris from wild animals is herein reported for the first time, thus suggesting the role that these animals could play as reservoirs of this emerging pathogen. The occurrence of C. auris in blood requires further investigation, although the presence of cationic antimicrobial peptides in the plasma of reptiles could play a role in reducing the vitality of the fungus., (© The Author(s) 2024. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology.)

Published
2024
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50. The TAC1 Gene in Candida albicans : Structure, Function, and Role in Azole Resistance: A Mini-Review.

Author

Mahdizade AH, Hoseinnejad A, Ghazanfari M, Boozhmehrani MJ, Bahreiny SS, Abastabar M, Galbo R, Giuffrè L, Haghani I, and Romeo O

Subjects
Humans, Mutation, Microbial Sensitivity Tests, Transcription Factors genetics, Candidiasis drug therapy, Candidiasis microbiology, Candida albicans drug effects, Candida albicans genetics, Antifungal Agents pharmacology, Azoles pharmacology, Drug Resistance, Fungal genetics, Fungal Proteins genetics, Fungal Proteins metabolism, Gene Expression Regulation, Fungal drug effects
Abstract

Candidiasis is a common fungal infection caused by Candida species, with Candida albicans being the most prevalent. Resistance to azole drugs, commonly used to treat Candida infections, poses a significant challenge. Transcriptional activator candidate 1 ( TAC1 ) gene has emerged as a key player in regulating drug resistance in C. albicans . This review explores the structure and function of the TAC1 gene and its role in azole resistance. This gene encodes a transcription factor that controls the expression of genes involved in drug resistance, such as efflux pump genes ( CDR1, CDR2, and MDR1 ) and ERG11 . Mutations in TAC1 can increase these genes' expression and confer resistance to azoles. Various TAC1 gene mutations, mostly gain-of-function mutations, have been identified, which upregulate CDR1 and CDR2 expression, resulting in azole resistance. Understanding the mechanisms of azole resistance mediated by the TAC1 gene is crucial for the strategies in the effective antifungal development pipeline.

Published
2024
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