957 resultados para public understanding of science
Resumo:
1829 (July - Dec.)
Resumo:
One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.
Resumo:
Texas State Department of Highways and Public Transportation, Transportation Planning Division, Austin
Resumo:
Mode of access: Internet.
Resumo:
Includes book reviews and abstracts.
Resumo:
Includes bibliographical references.
Resumo:
Each part also published separately, 1915 and 1916 respectively.
Resumo:
Mode of access: Internet.
Resumo:
I. From Homer to Omar Khayyam.--II. From Rabbi Ben Ezra to Roger Bacon, pt. 1-2.--III. Science and learning in the fourteenth century, pt. 1-2.
Resumo:
Classified and annotated.
Resumo:
Mode of access: Internet.
Resumo:
Mode of access: Internet.
Resumo:
Reprinted in Journal of the transactions of the Victoria Institute, vol. 42, 1910.
Resumo:
Includes bibliography and index.
Resumo:
Introduction.--Approaches through science and education: Lodge, O., Sir. A physicists's approach. Thompson, J. A. A biological approach. Muirhead, J. H. A psychological approach. Branford, V. V. A sociological approach towards unity. Russell, B. An ethical approach. Geddes, P. An educational approach ; a technical approach.--Approaches through faith: Kelman, J. A. Presbyterian approach. Bayne, R. A Church of England approach. Waggett, P. N. The church as seen from outside. Ward, W. A. Church of Rome approach.