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61.
Chaudhry SS Gazzard J Baldock C Dixon J Rock MJ Skinner GC Steel KP Kielty CM Dixon MJ 《Human molecular genetics》2001,10(8):835-843
Fibrillins are large, cysteine-rich glycoproteins that form microfibrils and play a central role in elastic fibrillogenesis. Fibrillin-1 and fibrillin-2, encoded by FBN1 on chromosome 15q21.1 and FBN2 on chromosome 5q23-q31, are highly similar proteins. The finding of mutations in FBN1 and FBN2 in the autosomal dominant microfibrillopathies Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA), respectively, has highlighted their essential role in the development and homeostasis of elastic fibres. MFS is characterized by cardiovascular, skeletal and ocular abnormalities, and CCA by long, thin, flexed digits, crumpled ears and mild joint contractures. Although mutations arise throughout FBN1, those clustering within exons 24-32 are associated with the most severe form of MFS, so-called neonatal MFS. All the mutations described in CCA occur in the "neonatal region" of FBN2. Both MFS and CCA are thought to arise via a dominant negative mechanism. The analysis of mouse mutations has demonstrated that fibrillin-1 microfibrils are mainly engaged in tissue homeostasis rather than elastic matrix assembly. In the current investigation, we have analysed the classical mouse mutant shaker-with-syndactylism using a positional candidate approach and demonstrated that loss-of-function mutations outside the "neonatal region" of Fbn2 cause syndactyly in mice. These results suggest that phenotypes distinct from CCA may result in man as a consequence of mutations outside the "neonatal region" of FBN2. 相似文献
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63.
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
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D Trump P H Dixon S Mumm C Wooding K E Davies D Schlessinger M P Whyte R V Thakker 《Journal of medical genetics》1998,35(11):905-909
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped to a 7 cM interval, flanked centromerically by F9 and telomerically by DXS98, in Xq26-q27, and an analysis of mitochondrial DNA has established a common ancestry for these two kindreds. In order to define further the map location of HPT and thereby facilitate its isolation, we have undertaken linkage studies using polymorphic loci whose order has been established as Xcen - DXS1001 - DXS294 - DXS102 - F9 - DXS1232 - DXS984 - CDR1 - DXS105 - DXS1205 - DXS1227 - DXS98 - DXS52 - Xqter, within this region. Our results established linkage (lod score > 3) between HPT and eight of these 12 loci and indicated that the most likely location of HPT was within a 1.5 Mb interval flanked centromerically by F9 and telomerically by DXS984. Thus, the results of this study have helped to refine the map location of HPT, and this will facilitate the identification of this putative developmental gene and its role in the embryological formation of the parathyroids. 相似文献
64.
Mice representing the twenty-second generation of selection for high and low open-field activity were tested on four different floor textures: soil, bedding, metal, and astroturf. Members of both groups were most active on soil and least active on the metal floor surface. Although floor texture significantly affected activity level, rank order of the high and low selected groups was maintained. In general, defecation scores were negatively correlated with activity. 相似文献
65.
Prof. I. M. L. Donaldson R. A. Dixon 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1980,38(3):245-255
Summary In cats, anaesthetized with chloralose and paralysed, the responses of units in the right lateral thalamus were recorded while the extrinsic ocular muscles (EOM) of the right eye were stretched in the dark. Phasic responses were found in all layers of the dorsal lateral geniculate nucleus (LGNd) and in the perigeniculate nucleus (PGN). A given unit usually responded to stretch of more than one EOM and thus to more than one direction of rotation of the eye in the orbit.
LGNd. Of a sample of 76 units in LGNd, 55 (72%) gave visual but no muscle responses and 21 (28%) responded to EOM stretch. In all, 40 units with EOM responses were examined and 25 of the 27 tested (93%) also had visual responses. Of the 40 units, 32 could be allocated to layers, thus: layer A, 8 (25%); layer A1, 20 (63%); layer B, 3 (9%); central interlaminar nucleus, 1 (3%). It is interesting that most of the EOM responses were found in layer A1 which receives the excitatory visual input from the eye whose EOM were stretched. Muscle responsive units occurred with ON- and OFF-centre visual responses of sustained and transient types.
PGN. In PGN, 21 units gave EOM responses and most of them were also excited by visual input.The conclusion is that the LGNd and PGN recieve an extraretinal proprioceptive signal which should be present during at least large saccadic eye movements. The anatomical pathways which may be involved and the significance of the signal are discussed briefly. 相似文献
66.
A new look at CT dose measurement: beyond CTDI 总被引:3,自引:0,他引:3
Dixon RL 《Medical physics》2003,30(6):1272-1280
Equations are derived for generating accumulated dose distributions and the dose line integral in a cylindrical dosimetry phantom for a helical CT scan series from the single slice dose profiles using convolution methods. This exposition will better clarify the nature of the dose distribution in helical CT, as well as providing the medical physicist with a better understanding of the physics involved in dose delivery and the measurement process. Also addressed is the concern that as radiation beam widths for multi-slice scanners get wider, the current methodology based on the measurement of the integral of the single slice profile using a 10 cm long ion chamber (CTDI100) may no longer be adequate. It is shown that this measurement would underestimate the equilibrium dose and dose line integral by about 20% in the center of the body phantom, and by about 10% in the center of the head phantom for a 20 mm nominal beam width in a multi-slice scanner. Rather than making the ion chamber even longer to collect the broad scatter tails of the single slice profile, an alternative to the CTDI method is suggested which involves using a small volume ion chamber, and scanning a length of phantom long enough to establish dose equilibrium at the location of the chamber. With a modern CT scanner, such a scan length can be covered in 15 s or less with a helical or axial series, so this method is not significantly more time-consuming than the long chamber method. The method is demonstrated experimentally herein. 相似文献
67.
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta 总被引:6,自引:0,他引:6
Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders. 相似文献
68.
69.
70.
Chronic gastritis--a pathogenetic approach 总被引:11,自引:0,他引:11