810 research outputs found
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene
No full textRecent discoveries have lead to the hypothesis that ciliary dysfunction is a mechanism underlying the pathogenesis of Bardet-Biedl syndrome (BBS). Here, we describe two individuals with decreased olfaction who are members of an extended family affected with BBS caused by a homozygous deletion (c.77-220del) in the BBS4 gene. These findings correlate with the evidence that several BBS proteins, including BBS4, are expressed in the olfactory epithelium (OE). Although the prevalence and the spectrum of impaired olfaction in BBS are not known, the causal relationship of the BBS4 deletion in this family and the decreased olfaction is corroborated by evidence that Bbs2 and Bbs4 knockout mice have severe olfaction deficits and that also patients with BBS caused by mutations in other BBS genes can have impaired olfaction. This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis
Schools of Anglo-Saxon stone sculpture in the north Midlands.
No full textThis thesis concerns the identification of schools of Anglo-Saxon stone sculpture in the the north
Midlands. It also contains a critical examination of the assumptions which have tended to
underlie previous studies of this subject. The term 'school' can be interpreted in different ways,
but is defined here as groups of sculptured monuments which are associated by common design
elements and appear to be a product of some form of localised organisation.
The research produced a large database of information for each sculptured stone monument in
the research area. The results of the analysis of this material are as follows:
An analytical method has been devised to identify objectively the schools and their geographical
distribution in terms of their design elements. Six different schools of sculpture have been
Identified in the research area. it is found that architectural sculpture does not appear to be
directly related to any of the schools: only free-standing sculpture shows such cohesion.
The geographical distribution of each school was compared with our understanding of land
divisions. It was found that the schools do not appear to relate to any ecclesiastical provision, but
to secular land units or settlement groups. In most cases these are likely to have been those
existing during the period of Viking settlement
The distribution of the sculpture is compared with our limited historical knowledge and this
suggests that most of the monuments can be dated to the first half of the tenth century. They
may have been erected as a result of the reconquest of Viking held territory, by the English.
Evidence, mainly from the types of stone used in the manufacture of the monuments, suggests
that they were likely to have been crafted at each site and were not the product of centralised
'workshops'
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
No full textPerson and experience : a study in the thought of Edgard Sheffield Brightman
No full textThis dissertation comprises exegesis and critique of the personalistic idealism of Edgar Sheffield Brightman (1884 - 1953). Chapter One offers a biography of Brightman's life and identifies the intellectual heritage out of which he emerged and in which his thought may be situated. Chapters Two to Seven contain major exegesis of Brightman's metaphysical system relevant to the detailed critique and redefinition of person which follows in the remaining two Chapters.
In these chapters the implications of Brightman's account of experience are examined extensively. The critique develops from relatively minor difficulties to a comprehensive analysis of the relationship that holds between the way he viewed experience and the category of substance. The argument will show that there is a distinction between experience and person which Brightman failed to recognize. The person is discovered to be (what will be called) a functional unity of purposive will and body with experience being one dimension of the person rather than its defining criterion.
The concept of person as a functional unity of purposive will and responsive body with experience being a dimension in the person is found to be a more consistent outworking of Brightman's experiential foundation than his own bifurcation of person and body
An Efficient Algorithm for the Spectra of Block Coded PAM Signals
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Previous issue date: 1977-06Joint Services Electronics Program / DAAB-07-72-C-0259National Science Foundation / NSF ENG 75-22621Coordinated Science Laboratory was formerly known as Control Systems Laboratory"Author name on cover is misspelled as ""Val Di Euliis""
Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome
No full text
The relationship of reduced levels of ATP to inhibited chondrogenesis in the production of limb deformity induced by 6-aminonicotinamide
No full text6-aminonicotinamide (6-AN), an analogue and antagonist of nicotinamide, impairs cartilage formation and results in shortening of the limb when administered to chick embryos. 6-AN forms an abnormal NAD analogue (6-ANAD), which inhibits the activity of NAD-dependent enzymes associated with the production of ATP. The mechanism of action of 6-AN was studied by measuring the biosynthesis of protein and DNA, and the sulfation and glycosylation of chondroitin sulfate in control and 6-AN treated cartilage from 8-day chick embryos. The cartilage was also assayed for ATP levels. Incorporation of Na235SO4 was inhibited by 6 h treatment with 10 μg/ml 6-AN, whereas 3H-thymidine and 3H-amino acid incorporation were not inhibited until 12 h. 3H-glucosamine incorporation was not inhibited during any of the treatment times examined. Decrease in the level of ATP preceded inhibition of Na235SO4 incorporation. These results are consistent with the view that 6-AN inhibits chondroitin sulfate synthesis through a reduction in the level of ATP in chondrocytes
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