Search results for ""Author Kevin V Urbano""

Genetic disorders constitute an important portion of childhood mortality, stillbirths, and ongoing disability. Single gene disorders arising from gene mutations, affecting any aspect of function or structure of the gene, are extraordinarily diverse. Most of these gene disorders are usually rare, but collectively they constitute an important public health burden. As such, the authors address the requirement for essential genetic and management services. Age-related macular degeneration is discussed, with risk factors including age, gender, ethnicity, smoking, body weight, hypertension and diet. Confluence of genetic and environmental risk factors lends credence to a complex, multifactorial etiologic model of development of age-related macular degeneration. Continuing, this compilation explores the molecular mechanisms of telomere attachment, specifically during the interphase. Their study is important not only for general telomere biology, but also for the understanding of cell aging and etiology of telomere-associated aging diseases. The important transcriptomic analyses performed in Streptomyces are discussed, particularly addressing how they contribute to uncovering the biochemical mechanisms that regulate morphology and secondary metabolism activation. A focus on bovine mastitis is provided, the most economically devastating disease affecting the dairy industry. Resistance to mastitis is a complex function involving various biological pathways, molecules and cells. Genetic factors are one of several factors affecting the occurrence of mastitis. The closing study centers on the way in which extracellular DNA is enriched with pericentromeric tandem repeats, the most variable portion of the genome up to species specificity.

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Volume 19 extensively reviews a few important aspects of genetic diversity, including: the importance of genetic diversity in livestock and agriculture, the assessment of different procedures to get a precise measure of genetic diversity, factors affecting genetic diversity, and strategies to prevent such losses. Continuing, this compilation discusses genomic instability, which has been observed in several inherited pathological conditions. Mutations causing the disorder, as well as genomic instability, were present in genes associated to different biochemical functions such as: calcium influx or ionic permeation. The authors discuss short sequence repeats or microsatellite markers, which have been utilized extensively in livestock because they can be easily amplified and possess large amounts of allelic variation at each locus. The authors also explore a new commercially available test that can identify fetal chromosomal abnormalities by analyzing fetal nucleic acids circulating in a maternal blood sample. This test can be done before 10 weeks and can replace traditional first-trimester non-invasive screening. The causes underlying inbreeding depression and heterosis are analyzed, allowing for new insights into these phenomena as the result of a diploid genome structure, creating the states of homozygosity and heterozygosity. The relation of inbreeding depression and heterosis to the major biological processes is demonstrated. The closing study discusses default sex from different points of view, proposing a conception "germ cell-supported female default" in vertebrate gonadal somatic cells, as well as the idea that most vertebrate sex-determining genes emerged as destruction factors against the female default.

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