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232 results on '"del Senno, L."'

7. Analysis of published PKD1 gene sequence variants

Author

Gout, A. M., ADPKD Gene Variant Consortium, Ravine, D., Harris, P. C., Rossetti, S., Peters, D., Breuning, M., Henske, E. P., Koizumi, A., Inoue, S., Shimizu, Y., Thongnoppakhun, W., Yenchitsomanus, P. T., Deltas, C., Sandford, R., Torra, R., Turco, Alberto, Jeffery, S., Fontes, M., Somlo, S., Furu, L. M., Smulders, Y. M., Mercier, B., Ferec, C., Burtey, S., Pei, Y., Kalaydjieva, L., Bogdanova, N., Mccluskey, M., Geon, L. J., Wouters, C. H., Reiterova, J., Stekrová, J., San Millan, J. L., Aguiari, G., and Del Senno, L.

Subjects
Genetics, sequence variants, Polymorphism, Genetic, TRPP Cation Channels, PKD1, Base Sequence, business.industry, Biology, Text mining, ADPKD, Polymorphism (computer science), Research Design, Humans, Base sequence, Gene sequence, business
Published
2007

17. Immunophenotypic, cytogenetic and molecular investigations in two cases of CALLA positive acute myeloid leukemia

Author

FRANCA FAGIOLI, Lanza, F., Carli, M. G., Cuneo, A., Gandini, D., Del Senno, L., and Castoldi, G.

Subjects
Male, Gene Rearrangement, B-Lymphocyte, Heavy Chain, Acute, Leukemia, Myelomonocytic, Acute, Chromosomes, Immunophenotyping, Aged, Antigens, Neoplasm, Biomarkers, Tumor, Chromosome Deletion, Chromosomes, Human, Pair 6, Female, Humans, Leukemia, Monocytic, Acute, Neoplastic Stem Cells, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Antigens, Gene Rearrangement, Tumor, Leukemia, Monocytic, B-Lymphocyte, Myelomonocytic, Heavy Chain, Neoplasm, Pair 6, Biomarkers, Human
Abstract

Clinicopathological and cytogenetic features of two patients with acute myelogenous leukemia (AML) whose blast cells coexpressed myeloid-associated antigens and CALLA are described. Leukemia cells revealed myelomonocytic (FAB-M4) and monocytic (FAB-M5) features, while the nonblast cell population exhibited trilineage myelodysplasia in both cases, a finding suggestive of multiple-cell-lineage involvement. Cytogenetically, a deletion of the long arm of chromosome 6 was found in one patient, and normal metaphases were detected in the other. Molecular studies disclosed a rearrangement of the IgH locus in one patient. Clinically, these patients were unresponsive to antimyeloid regimens including Daunorubicin and Cytarabine, two agents normally also effective on lymphoblastic leukemias, possibly indicating the need for alternative protocols for the treatment of CALLA positive AML.

Published
1990

30. Therapy-related adult acute lymphoblastic leukemia with t(4;11)(q21; q23): MLL rearrangement, p53 mutation and multilineage involvement.

Author

Bigoni, R, Cuneo, A, Roberti, M Grazia, Moretti, S, De Angeli, C, Dabusti, M, Campioni, D, Senno, L del, Biondi, A, Chaplin, T, Young, B D, Castoldi, G, Roberti, M G, and del Senno, L

Subjects
LYMPHOBLASTIC leukemia, ADENOCARCINOMA, CHROMOSOME abnormalities, CHROMOSOMES, COMPARATIVE studies, GENES, RESEARCH methodology, MEDICAL cooperation, GENETIC mutation, ONCOGENES, PROTEINS, RESEARCH, TRANSCRIPTION factors, TRANSFERASES, DNA-binding proteins, EVALUATION research, SECONDARY primary cancer
Abstract

A diagnosis of pro-B acute lymphoblastic leukemia (ALL) with CD15+ was made in a 42-year-old woman, 12 months after the treatment of uterine adenocarcinoma by carboplatinum, anthracyclines, etoposide and radiotherapy. Molecular cytogenetic studies revealed a karyotype with multiple chromosome changes, including the t(4;11)(q21;q23) and a 17p-chromosome, with MLL disruption and 17p13/p53 gene deletion in 86% of the cells. A p53 exon 6 mutation was documented, resulting in p53 protein stabilization, with 20% of the cells reacting with the 1801 anti-p53 monoclonal antibody. Dual-color FISH using MLL and p53 probes was performed on peripheral blood smears, providing direct evidence of the involvement of the blast cells and of the granulocytic lineage. Only a partial, shortlasting response was obtained by induction treatment, confirming that a poor prognosis is associated with therapy-related ALL with the 4;11 translocation. [ABSTRACT FROM AUTHOR]

Published
1999
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31. beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.

Author

Del Senno, L, Pirastu, M, Barbieri, R, Bernardi, F, Buzzoni, D, Marchetti, G, Perrotta, C, Vullo, C, Kan, Y W, and Conconi, F

Abstract

Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I. [ABSTRACT FROM PUBLISHER]

Published
1985

33. Cyclosporin-A increases type I procollagen production and mRNA level in human gingival fibroblasts in vitro.

Author

Schincaglia, G. P., Forniti, F., Cavallinl, R., Piva, R., Calura, G., del Senno, L., and Cavallini, R

Subjects
GINGIVAL hyperplasia, CYCLOSPORINE, COLLAGEN, MESSENGER RNA, FIBROBLASTS, RNA metabolism, COMPARATIVE studies, RESEARCH methodology, MEDICAL cooperation, RESEARCH, EVALUATION research, IN vitro studies, PHARMACODYNAMICS
Abstract

In order to study the pathogenesis of gingival overgrowth induced by the immunosuppressive drug cyclosporine-A (CyA), we investigated its effect on 3H thymidine incorporation and on collagen production and mRNA levels in fibroblast cultures obtained from normal human gingiva. At concentrations of 100, 500 and 1000 ng/ml, CyA did not modify thymidine incorporation after 24 and 72 h of incubation. However, after 24 h it significantly increased the level of 3H proline-containing proteins in the medium. In addition, CyA increased alpha-procollagen chains by up to three times. This CyA-induced change was related to a rise in the level of type I procollagen. The CyA effect on fibroblasts was markedly reduced by cycloheximide, an inhibitor of protein synthesis, and it correlated well with an increase of type I procollagen mRNA. Overall, our data indicate a direct stimulatory action of CyA on collagen synthesis, but not on DNA synthesis, in human gingival fibroblasts. [ABSTRACT FROM AUTHOR]

Published
1992
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34. Identification of a c‐myconcogene lacking the exon 1 in the normal cells of a patient carrying a thyroid carcinoma

Author

Del Senno, L., Uberti, E.Degli, Rossi, M., Buzzoni, D., Barbieri, R., Rossi, P., Patracchini, P., Bernardi, F., Marchetti, G., Conconi, F., and Gambari, R.

Abstract

In this paper we describe an alteration of the c‐myconcogene present in the white blood cells and normal as well as neoplastic thyroid cells of a subject carrying a thyroid carcinoma. Restriction enzyme mapping and hybridization to human c‐mycprobes specific for different regions of this gene demonstrate that this subject carries, in addition to the normal one, a c‐myconcogene lacking the first exon and part of the first intron. The levels of the c‐mycmRNA in thyroid cells of this subject do not show differences with respect to thyroid cells from other subjects. Taken together, these findings indicate that the deletion of the first exon of the c‐myconcogene, in itself, does not produce overtranscription of this oncogene nor hematopoietic malignancies.

Published
1986
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35. Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

Author

Bernardi, F, Marchetti, G, Patracchini, P, del Senno, L, Tripodi, M, Fantoni, A, Bartolai, S, Vannini, F, Felloni, L, and Rossi, L

Abstract

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Published
1987
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36. [Huntington chorea in the province of Ferrara from 1971 to 1987. Descriptive study]

Author

Govoni V, Pavoni M, Enrico Granieri, Carreras M, Malagù S, Gandini E, and Del Senno L

Subjects
Male, Huntington Disease, Italy, Risk Factors, Humans, Female, Middle Aged, Aged
Abstract

In the context of a multidisciplinary study program whose purpose is to investigate the genetic aspects of Huntington's Chorea (HC), the authors conducted an epidemiological descriptive research extended to the population residing in the province of Ferrara in a time period including the years from 1971 to 1987. On December 31st, 1987 we estimated a prevalence rate of 1.89 cases of HC per 100,000 inhabitants; in the years 1971-1987 the incidence rate was of 0.11 per 100,000/year and the mortality rate of 0.06 per 100,000/year. In the last years considered for the study, the incidence and the prevalence showed a relative increase indicating that HC still exists in the ferrarese population, despite a greater public awareness. With the aim to organize preventive actions and to reach the preclinical diagnosis of the disease we singled out 83 subjects at risk the study area.

Published
1988

37. ALPHA-THALASSEMIA TRAIT IN THE REGION OF FERRARA

Author

Del Senno, L., Bernardi, F., Buzzoni, D., Casoni, I., Marchetti, G., Carla Perrotta, Conconi, F., Cristofori, G., Salsini, G., Vullo, C., Cappellozza, G., Bellinello, F., Bedendo, B., Mercuriati, M., L., Del Senno, F., Bernardi, D., Buzzoni, I., Casoni, G., Marchetti, Perrotta, Carla, F., Conconi, G., Cristofori, G., Salsini, C., Vullo, G., Cappellozza, F., Bellinello, B., Bedendo, and M., Mercuriati

Published
1981

40. Hypomethylation of the human estrogen receptor gene in primary human breast cancers

Author

A P Rimondi, Roberta Piva, Iva Maestri, Giovannini G, del Senno L, and Castagnoli A

Subjects
Oncology, Cancer Research, medicine.medical_specialty, business.industry, Clinical Biochemistry, Breast Neoplasms, DNA, Neoplasm, Biology, Methylation, Pathology and Forensic Medicine, Text mining, Receptors, Estrogen, Internal medicine, medicine, Cancer research, Humans, business, Estrogen receptor alpha, Human breast, Estrogen receptor beta
Published
1988

42. Gene deletion in an Italian haemophilia B subject.

Author

Bernardi, F, del Senno, L, Barbieri, R, Buzzoni, D, Gambari, R, Marchetti, G, Conconi, F, Panicucci, F, Positano, M, and Pitruzzello, S

Abstract

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. [ABSTRACT FROM PUBLISHER]

Published
1985

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