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Biomedical subjects

David Gross

Publications and source records attributed to David Gross.

7 recordsLinked to original sources
PubMed2006

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Mutations in the VHL gene cause von Hippel-Lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. We report the molecular characterization of two sequence variants of the VHL gene: a synonymous substitution c.462 A>C in exon 2 and a duplication of 11 bp in the promoter region (c.-65_-55dup11). The first variant is a pathogenic mutation because, although it does not change the sense of the affected codon, it causes skipping of exon 2 in the affected allele by altering the splicing consensus site at the 3' end of exon 2. The 11 bp duplication represents a nonpathogenic variant. In fact, although it affects a critical region of the VHL promoter, it was found in healthy controls, and we show that carrier individuals express both VHL alleles at equimolar levels. Our data underline the importance of careful evaluation of the potential pathogenicity of sequence variants that may not belong to the obvious disease-causing mutation categories, or that affect relevant regulatory regions. mRNA analysis will be required to ultimately resolve this issue.

Adolescent↗
PubMed2005

Heritability of morningness-eveningness and self-report sleep measures in a family-based sample of 521 hutterites.

Individual variation in the phase and amplitude of human circadian rhythms is well known, but the impact of heritable factors on such variation is less clear. We estimated the narrow-sense heritability for selected circadian and sleep timing, quality, and duration measures among related members of the Hutterites, an endogamous, religious community (n=521 participants). "Morningness-eveningness" (M/E), a stable trait reflecting circadian phase, was evaluated using the Composite Scale (CS). Subjective sleep measures were assessed using the Sleep Timing Questionnaire. Initial analyses reconfirmed the impact of age on M/E. Previously reported correlations between M/E scores and the sleep measures were also noted, demonstrating the construct validity of the questionnaires among the participants. Following corrections for age, gender, and colony of residence, significant narrow-sense heritability was noted for M/E (23%). The heritability for subjective sleep measures (related to timing, duration, and quality) were statistically significant for all but one variable, and varied between 12.4% and 29.4%. Thus, significant heritable influences on human circadian phase and subjective sleep indices can be detected through family-based studies. In view of the impact of circadian malfunction on human health, it may be worthwhile to map genetic factors impacting circadian and sleep variation.

Circadian Rhythm↗
PubMed2003

Generic drugs.

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Consumer Behavior↗
PubMed2002

Cytokine production in Linomide-treated nod mice and the potential role of a Th (1)/Th(2) shift on autoimmune and anti-inflammatory processes.

Linomide prevents the development of autoimmune insulitis and insulin-deficient diabetes mellitus in female NOD mice. Linomide prevents development of autoimmune manifestations in other experimentally induced and spontaneous autoimmune diseases as well, but the mechanism of action is unknown. The present report summarizes our investigations on the effect of Linomide on different functional T cell subsets in NOD mice analyzed according to their cytokine profile. Supernatants from cultured splenocytes and peritoneal cells taken from Linomide-treated mice contained lower levels of TNFalpha, IL-1 beta, IFN gamma and IL-12 versus higher levels of IL-4, IL-6 and IL-10 in comparison with supernatants from cultures of untreated mice. Our results suggest that regulation of autoimmunity following oral Linomide administration in NOD mice induces a shift from Th(1) to Th(2) phenotype response, thereby preventing the development of diabetes by active cytokine-induced immunoregulation of T cell subsets, including downregulation of Th(1) and upregulation of Th(2).

Adjuvants, Immunologic↗
PubMed1990

Effect of Monoamine Oxidase Inhibition, Thiopental Anesthesia, and Electroconvulsive Shock (ECS).

A series of experiments were conducted to investigate the effect of the monoamine oxidase inhibitor (MAOI), phenelzine, on thiopental anesthesia, electroshock, and blood pressure. After demonstrating that phenelzine (1 mg/kg/day orally) produced the same decrease in pig platelet monoamine oxidase as seen in humans, we compared MAOI-treated vs. non-MAOI-treated groups of pigs following anesthesia and electroconvulsive shock (ECS). In the majority of pigs, the increase in blood pressure associated with general anesthesia and ECS is no greater after MAOI treatment than after no MAOI treatment. One phenelzine-treated pig demonstrated an excessive catecholamine surge and elevated blood pressure.

Journal Article↗