Overgrowth syndromes and the regulation of signaling complexes by proteoglycans

Article Abstract:

Overgrowth syndromes have been studied with a view to regulation of signaling complexes by proteoglycans, a class of sugar-modified proteins. Two fundamental features of cell surfaces, sugars on the plasma membrane and diversity, in tissue-specific patterns, of sugars on the cell surface, are highlighted in findings. Cell-surface proteoglycans can have an effect on tissue growth and morphogenesis and may act as a novel tumor suppressor class. GAG chains seem to be critical for proteoglycans function. It is proposed that heparin sulfate, a negatively charged molecule that binds various extracellular proteins, modified proteoglycans, which then act as growth-factor coreceptors to affect delivery or assembly of ligands into signaling complexes. Characterizing phenotypes of mice and of division abnormally delayed (dally (ital)) mutant flies was helpful in studying the problem. Dally is a fly glypican.

Editorial, Risk factors, Physiological aspects, Cellular signal transduction, Drosophila, Biological models, Cell membranes, Plasma membranes, Tumors, Growth factor receptors, Heparin, Proteoglycans, Nephroblastoma

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Haplotype and phenotype analysis of nine recurrent BRCA2 (ital) mutations in 111 families: results of an international study

Article Abstract:

Results of an international phenotype and haplotype analysis of nine recurrent BRCA2 (ital) mutations in 111 families in which breast or breast/ovarian cancer is found give evidence of no more than one origin of identical BRCA2 (ital) mutations. Data were in line with those from a previous study in which a higher incidence or ovarian cancer was seen in a 3.3-kb region of exon 11. Family-specific effects were not found.

United Kingdom, Italy, Canada, Israel, Germany, France, Sweden, Spain, Breast cancer, Ovarian cancer

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Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities

Article Abstract:

Members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of low-copy repeats are described and it is demonstrated that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities. The data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development.

Science & research, Nucleotide sequence, Base sequence

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