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Biomedical subjects

A Bottaro

Publications and source records attributed to A Bottaro.

39 records · Page 3Linked to original sources
PubMed1989

Gene deletions within the human immunoglobulin heavy chain constant region gene cluster.

Gene deletions due to unequal crossing-over events represent a not uncommon cause of immunoglobulin isotype deficiency. A variety of deleted haplotypes has been ascertained in the Italian population by means of screening for different Ig isotypes followed by Southern blot analysis of the deficient probands. The total frequency of gene deletions involving the gamma 2 and/or gamma 4 genes amounts to about 1/60; among these, a higher frequency was observed for multigene compared with single gene deletions. Carriers of multiple deficiencies due to gene deletions are able to activate compensation mechanisms, avoiding the usual pathological consequences of the deficiency.

Chromosome Deletion↗
PubMedDate not supplied

The biochemical genetics of amyloid fibril proteins.

Amyloidoses are a very heterogeneous set of diseases, characterized by extracellular deposition of fibrillar proteins in different tissues. It is still a matter of debate whether the different forms of amyloidosis can share some common etiological mechanisms, or they are completely unrelated. The biochemical characterization of the protein component of the deposits provides a powerful system of classification for the different amyloidotic disorders and shades light on the molecular mechanisms of selective precipitation from soluble precursors and of tissue-specific deposition. Furthermore, identification and analysis of the genes coding for the precursors, and clarification of the kind of inheritance in some familial forms of amyloidosis, make prevention through genetic counselling and predictive diagnosis possible.

Alzheimer Disease↗