نتایج جستجو برای: ectrodactyly
تعداد نتایج: 300 فیلتر نتایج به سال:
OBJECTIVES The Academic Clinical Fellowship (ACF) was introduced to support the early career clinical and research training of potential future clinical academics in England. The driver for the model was concern about falling numbers of clinical academic trainees. This study examines the impact of the ACF model, over its first 10 years, in developing clinical academic careers by tracking the pr...
In an experiment to understand colon carcinogenesis, all animals were exposed to a carcinogen, with half the animals also being exposed to radiation. Spatially, we measured the existence of what are referred to as aberrant crypt foci (ACF), namely, morphologically changed colonic crypts that are known to be precursors of colon cancer development. The biological question of interest is whether t...
Aberrant crypt foci (ACFs) are the earliest identifiable epithelial lesions thought to precede the development of a subset of colon tumors. To assess their predictive value to adenoma development, we have tested in mice whether the development of ACFs and adenomas is controlled by the same genes. Therefore we used the CcS/Dem series of recombinant congenic strains, in which the effect of multip...
mean hyperemia with CAPT was 2.3 6 0.6 units (between moderate and severe) and with EEC was 1.9 6 0.5 units (approximately moderate); these maxima occurred after 30 minutes with CAPT (rapid spike) and after 180 minutes with EEC (gradual increase). Mean swelling was ,1 unit out of 4 units at all times (CAPT and EEC), and mucous discharge was observed in only 1 subject during the study (with CAPT...
Burkholderia sp. strain SJ98 has the chemotactic activity towards nitroaromatic and chloronitroaromatic compounds. Recently our group published draft genome of strain SJ98. In this study, we further sequence and annotate the genome of stain SJ98 to exploit the potential of this bacterium. We specifically annotate its chemotaxis genes and methyl accepting chemotaxis proteins. Genome of Burkholde...
Zorflex® activated carbon fibers (ACF), reference FM100 198B, are used before and after an oxidizing procedure with H3PO4 to study the adsorption of Pb 2+. The point of zero charge was determined for the modified and unmodified fiber giving values of 2.3 and 4.3, respectively. After oxidizing the ACF, the fiber showed to have a greater Pb2+ adsorption capacity in comparison with the unmodified ...
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
BACKGROUND Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins. METHODS We ana...
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in AC...
Heterozygous mutations of p63, a key transcription factor in epithelial development, are causative in a variety of human ectodermal dysplasia disorders. Although the mutation spectrum of these disorders displays a striking genotype-phenotype association, the molecular basis for this association is only superficially known. Here, we characterize the transcriptional activity and protein stability...
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