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Biomedical subjects

A Rovescalli

Publications and source records attributed to A Rovescalli.

8 recordsLinked to original sources

Dopaminergic activity and stereochemical considerations for rigid angular tricyclic congeners of dopamine: benzoquinoxalines and naphthothiazines.

Replacement of the oxygen atom at 1-position in the hexahydronaphthoxazines (4, PHNO) with a sulfur or nitrogen atom leads to the hexahydronaphthiazines (6, PHNT) and octahydro-benzoquinoxalines (5, POBQ) respectively and the 9-OH-PHNT shows to have a high affinity towards D-2 dopamine receptors in the binding assays; the racemic 9-OH-PHNT was then resolved and its absolute configuration was determined by CD. Inactivity on D-2 receptors of (+)-9-OCH3-PHNT 12 confirms the validity of the McDermed receptor model.

Animals↗

An unusually large 5q duplication in an adult female subject: spreading of inactivation and in vitro instability of the derivative Xp/5q chromosome.

An unbalanced translocation resulting in an unusually large partial 5q trisomy (5q11-5qter) and partial Xp monosomy (Xp11-Xpter) is reported in a 24 yr old woman with phenotypic abnormalities including gonadal dysgenesis and mental retardation. The karyotypes of the parents and the brother were found normal. Peripheral blood stimulated lymphocytes and cutaneous fibroblasts of the proband exhibited constantly, after BrdU incorporation, selective inactivation of the derivative X;5 chromosome spreading to the 5q duplicate segment. A variety of numerical and structural changes involving the derivative chromosome were observed in about 10% of cells of the cultured lymphoblastoid line established from the subject's lymphocytes. The extended 5q duplication, according to the literature, is generally accompanied by a severe phenotype and by developmental failure; it is therefore believe that genetic inactivation of the 5q duplicated region permitted the proband's development to adult age, despite the profound chromosomal imbalance.

Abnormalities, Multiple↗