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Automated micronucleus (MN) scoring for population triage in case of large scale radiation events
Purpose: In case of a large-scale radiation accident when hundreds of people may be exposed, it is important to distinguish the severely exposed individuals (≥1 gray), who require early medicalExpand
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A polymorphism in the promoter region of Ku70/XRCC6, associated with breast cancer risk and oestrogen exposure
PurposePolymorphisms in double strand break repair genes could be involved in genetic breast cancer predisposition as enhanced chromosomal radiosensitivity is a hallmark for breast cancer.Expand
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Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).
In the Milan area (Northern Italy), we identified a family characterized by a high prevalence of ovarian and breast cancer cases (5 out of 6 subjects, over 3 generations), and a predominantExpand
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Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years
Abstract Phosphorylase kinase (PHK) is a regulatory enzyme in glycogen metabolism. Mutations in the gene encoding the α subunit of PHK (PHKA2) have been shown to be responsible for X-linked liverExpand
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Lentivirus-mediated RNA interference of Ku70 to enhance radiosensitivity of human mammary epithelial cells
Purpose: To investigate the radiosensitising effect of Ku autoantigen 70 (Ku70) and Ku autoantigen 80 (Ku80) knockdown by lentivirus-mediated RNA interference (RNAi) in the MCF10A immortalised humanExpand
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Monoclonal triiodothyronine (T3)-binding immunoglobulins in a euthyroid woman.
Abstract Serum from a euthyroid woman, without apparent thyroid disease, was tested by agarose electrophoresis, which revealed an abnormal thyroid hormone-binding protein that interfered with theExpand
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Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tissue enzyme deficiency and episodes of muscle contractions and myoglobinuria was examined. AnalysisExpand
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Ring injury with bilateral rupture of the digital arteries without skin damage.
A particular type of trauma of the ring finger, brought about by a ring, resulted in a subadventitial rupture of the radial digital artery and a complete rupture of the ulnar digital artery, despiteExpand
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Prevention and modulation of aminoglycoside ototoxicity (Review).
More than 60 years after their isolation and characterization, aminoglycoside (AG) antibiotics remain powerful agents in the treatment of severe gram-negative, enterococcal or mycobacterialExpand
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Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia.
edge, ours is the second reported case of this disorder. Erythema nodosum is frequently associated with streptococcal infection, mycoses, tuberculosis, sarcoidosis, or drug allergy. None of these wasExpand
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