منابع مشابه
Limited Lifespan of Fragile Regions in Mammalian Evolution
An important question in genome evolution is whether there exist fragile regions (rearrangement hotspots) where chromosomal rearrangements are happening over and over again. Although nearly all recent studies supported the existence of fragile regions in mammalian genomes, the most comprehensive phylogenomic study of mammals (Ma et al. (2006) Genome Research 16, 1557-1565) raised some doubts ab...
متن کاملFragile sites and human disease.
A relationship between fragile sites, specific genomic regions visible as gaps or breaks on cultivated chromosomes, and human disease has been proposed many years ago. Evidence for a role of the ubiquitously expressed common fragile sites characterized by peculiar genome architecture in cancer has been accumulated over the last years. In contrast, a relationship between the second main group of...
متن کاملcryopreservation of limited numbers of ejaculated and surgically retrieved human spermatozoae within empty human zona pellucida
introduction: cryopreservation of single human spermatozoa is a new technique designed to improve the management of male infertility, it was first introduced in 1997 and was reported by others latter. the aim of this research was to evaluate the efficiency of this method in preserving either ejaculated or surgically retrieved spermatozoae. materials and methods: spermatozoae were obtained from ...
متن کاملThe clinical significance of fragile sites on human chromosomes.
Fragile X syndrome is now a well established common clinical entity and most of those who are aware of the condition probably know that it takes its name from a rare fragile site (FRAXA) on the X chromosome. This is the best known fragile site and its clinical significance is clear. Similar, but a little less known is FRAXE, a fragile site close to that associated with fragile X syndrome, but i...
متن کاملModeling Fragile X Syndrome Using Human Pluripotent Stem Cells
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a loss-of-function mutation by a CGG repeat expansion at the 5' untranslated region of the X-linked fragile X mental retardation 1 (FMR1) gene. Expansion of the CGG repeats beyond 200 copies results in protein deficiency by leading to aberrant methylation of the FMR1 promoter and the switch from ...
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ژورنال
عنوان ژورنال: Current Sociology
سال: 2021
ISSN: ['1461-7064', '0011-3921']
DOI: https://doi.org/10.1177/0011392121994701