Patients affected by some genetic skin defects, for example, dyskeratosis congenita or scleroderma, may present spontaneous or induced chromosomal fragility. Hence we performed a cytogenetic analysis in families of patients affected by lamellar ichthyosis, an autosomal recessive disease not yet fully characterized at the cellular and molecular levels. Chromosomal fragility was assayed in untreated lymphocyte cultures and in those supplemented with aphidicolin or bleomycin. Cells from some affected patients and some of their parents showed hypersensitivity to the radiomimetic agent bleomycin. (C) Elsevier Science Inc., 1998.

Vernole, P., Tullio, A., Caporossi, D., Didona, B., Melino, G., Tedeschi, B. (1999). Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis. CANCER GENETICS AND CYTOGENETICS, 108(2), 154-157 [10.1016/S0165-4608(98)00136-8].

Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis

VERNOLE, PATRIZIA;MELINO, GENNARO;
1999-01-01

Abstract

Patients affected by some genetic skin defects, for example, dyskeratosis congenita or scleroderma, may present spontaneous or induced chromosomal fragility. Hence we performed a cytogenetic analysis in families of patients affected by lamellar ichthyosis, an autosomal recessive disease not yet fully characterized at the cellular and molecular levels. Chromosomal fragility was assayed in untreated lymphocyte cultures and in those supplemented with aphidicolin or bleomycin. Cells from some affected patients and some of their parents showed hypersensitivity to the radiomimetic agent bleomycin. (C) Elsevier Science Inc., 1998.
1999
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/13 - BIOLOGIA APPLICATA
English
Con Impact Factor ISI
aphidicolin; bleomycin; adolescent; adult; article; autosomal recessive disorder; chromosome aberration; chromosome fragility; clinical article; female; human; lamellar ichthyosis; lymphocyte culture; male; priority journal; Bleomycin; Chromosome Aberrations; Chromosome Fragility; Female; Humans; Ichthyosis, Lamellar; Lymphocytes; Male; Pedigree; Scleroderma
Vernole, P., Tullio, A., Caporossi, D., Didona, B., Melino, G., Tedeschi, B. (1999). Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis. CANCER GENETICS AND CYTOGENETICS, 108(2), 154-157 [10.1016/S0165-4608(98)00136-8].
Vernole, P; Tullio, A; Caporossi, D; Didona, B; Melino, G; Tedeschi, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/49926
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