Mitomycin C (MC) is a cytotoxic and mutagenic antitumor agent that alkylates DNA upon reductive activation. 2,7-Diaminomitosene (2,7-DAM) is a major metabolite of MC in tumor cells, which also alkylates DNA. MC forms seven DNA adducts, including monoadducts and inter- and intrastrand cross-links, whereas 2,7-DAM forms two monoadducts. Herein, the biological effects of the dG-N(2) adducts formed...

In yeast, DNA polymerase zeta (Rev3 and Rev7) and Rev1, involved in the error-prone translesion synthesis during replication of nuclear DNA, localize also in mitochondria. We show that overexpression of Rev3 reduced the mtDNA extended mutability caused by a subclass of pathological mutations in Mip1, the yeast mitochondrial DNA polymerase orthologous to human Pol gamma. This beneficial effect w...

Note The Weaver syndrome is characterized by macrocephaly, dysmorphic facial features, accelerated skeletal maturation, limb anomalies, development delay and a predisposition for tumors. Inheritance Inheritance is an autosomal dominant nature. Etiology: Intragenic mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1), that have been associated with Sotos syndrome, have been...

Note Alport Syndrome (AS) is a rare hereditary glomerular nephropathy, its incidence is approximatively 1/5000 individuals. Its association with leiomyomatosis is estimated at 5% of the cases. Leiomyomatosis tends to affect young boys (mean age: 6 years) and women at a mean age of 40 years. In contrast to the renal lesions which are less severe among women, the leiomyomatosis is as severe in wo...

Inheritance MAS is not inherited. It is a sporadic genetic disorder, caused by a mutation in the GNAS gene encoding the alpha subunit of the stimulatory G protein (GSalpha), cyclic AMP protein kinase dependent cellular signaling pathway involving G protein coupled receptors. An arginine or occasionally serine, leucine or glycine to histidine transposition at residue 201 attenuates GTpase activi...

Alias Multiple cutaneous and uterine leiomyomatosis (MCUL) Hereditary leiomyomatosis and renal cell cancer (HLRCC) Note Multiple cutaneous leiomyomatosis (MCUL) is characterized by multiple leiomyomas of the skin and uterus. When associated with renal cell cancer, this syndrome is referred to as hereditary leiomyomatosis and renal cell cancer (HLRCC). Inheritance Autosomal dominant with incompl...

Growth and mental development: 30% of children have low birth weight and short stature, and 75% a head circumference at birth below the 3rd percentile; all patients develop a severe microcephaly during the first months of life; mental development is normal in 35% of the patients, moderately retarded in the others; cerebellar ataxia is absent; alphafoetoprotein levels are normal, in contrast to ...

Background: The methods of baby's position are an important critical factor in ventilation and oxygenation of tissues. Although the prone position as one of the recommended position has beneficial effect on the development of premature infants, little research has been done. Methods: In a clinical trial among mechanically ventilated infants, hospitalized in the neonatal intensive care units (N...