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排序方式: 共有168条查询结果,搜索用时 15 毫秒
1.
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia 总被引:5,自引:0,他引:5 下载免费PDF全文
2.
Calcrete aquifers from the Yilgarn region of arid central Western Australia contain an assemblage of obligate groundwater invertebrate species that are each endemic to single aquifers. Fine-scale phylogeographic and population genetic analyses of three sympatric and independently derived species of amphipod (Chiltoniidae) were carried out to determine whether there were common patterns of population genetic structure or evidence for past geographic isolation of populations within a single calcrete aquifer. Genetic diversity in amphipod mitochondrial DNA (cytochrome c oxidase subunit I gene) and allozymes were examined across a 3.5 km2 region of the Sturt Meadows calcrete, which contains a grid of 115 bore holes (=wells). Stygobiont amphipods were found to have high levels of mitochondrial haplotype diversity coupled with low nucleotide diversity. Mitochondrial phylogeographic structuring was found between haplogroups for one of the chiltoniid species, which also showed population structuring for nuclear markers. Signatures of population expansion in two of the three species, match previous findings for diving beetles at the same site, indicating that the system is dynamic. We propose isolation of populations in refugia within the calcrete, followed by expansion events, as the most likely source of intraspecific genetic diversity, due to changes in water level influencing gene flow across the calcrete. 相似文献
3.
Facial skeletal changes following hypertelorbitism correction 总被引:4,自引:0,他引:4
J B Mulliken L B Kaban C A Evans R D Strand J E Murray 《Plastic and reconstructive surgery》1986,77(1):7-16
This is a retrospective study of skeletal changes in 19 patients with corrected hypertelorism. A favorable outcome, defined as relapse less than 5 mm, occurred in patients with an average interorbital distance of 32 mm, whereas patients with an average interorbital distance of 40 mm tended to relapse over 5 mm. Neither age, interorbital configuration, nor diagnosis affected the stability of orbital translocation. At last evaluation (mean 6.7 years postoperatively), the mean interorbital distance was 22.4 mm in the favorable outcome group and 28.3 mm in the unfavorable category. This study suggested that the standard hypertelorism operation may interfere with anterior facial growth. Unless psychosocial factors predominate in a child with mild deformity, repair should be postponed until late adolescence. In a young child with gross telorbitism, nasoethmoidal resection and transmaxillary osteotomies or facial bipartition is justified. Another long-term skeletal problem was resorption of the reconstructed nasal complex. Technical and biological explanations for this are given. The correction of hypertelorism is surgery of the nose and of the midface. 相似文献
4.
Skeletal changes associated with vascular malformations 总被引:5,自引:0,他引:5
J B Boyd J B Mulliken L B Kaban J Upton J E Murray 《Plastic and reconstructive surgery》1984,74(6):789-797
Five hundred and eighty birthmarks were reviewed; 356 were hemangiomas and 224 were malformations. Bony alterations occurred in association with only 1 percent of hemangiomas, in contrast with 34 percent of patients with vascular malformations. These alterations in bone development were classified according to size, shape, and density changes. Hypertrophy and distortion were typical of lymphatic malformations. Hypoplasia and demineralization were characteristic findings in the extremity venous malformations. Destructive and intraosseous changes were more commonly noted in the arterial or high-flow lesions. Possible mechanisms of altered skeletal growth include mechanical, physiological, and developmental processes. 相似文献
5.
Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described before, the fourth mutation, a CG transversion at codon 342 in one of the sporadic cases, has not been recognized previously. Compilation of all exon B mutations in Crouzon syndrome described to date revealed that 6 of the 8 sporadic and 2 of the 9 familial cases have mutations in codon 342. These mutations caused the substitution of cysteine for another amino acid. Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome. 相似文献
6.
Background
DNA repair is the general term for the collection of critical mechanisms which repair many forms of DNA damage such as methylation or ionizing radiation. DNA repair has mainly been studied in experimental and clinical situations, and relatively few information-based approaches to new extracting DNA repair knowledge exist. As a first step, automatic detection of DNA repair proteins in genomes via informatics techniques is desirable; however, there are many forms of DNA repair and it is not a straightforward process to identify and classify repair proteins with a single optimal method. We perform a study of the ability of homology and machine learning-based methods to identify and classify DNA repair proteins, as well as scan vertebrate genomes for the presence of novel repair proteins. Combinations of primary sequence polypeptide frequency, secondary structure, and homology information are used as feature information for input to a Support Vector Machine (SVM). 相似文献7.
A child with duplicate maxilla is presented, along with a review of the literature of similar cases. Partial duplications of the maxilla are frequently accompanied by cleft lip and palate, multiple uvulae, hypertelorbitism, and intracranial anomalies with hydrocephalus. Theories of the morphopathogenesis for this malformation sequence are discussed. 相似文献
8.
Kurek KC Luks VL Ayturk UM Alomari AI Fishman SJ Spencer SA Mulliken JB Bowen ME Yamamoto GL Kozakewich HP Warman ML 《American journal of human genetics》2012,90(6):1108-1115
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation arising during early embryonic development. Therefore, we employed massively parallel sequencing to search for somatic mosaic mutations in fresh, frozen, or fixed archival tissue from six affected individuals. We identified mutations in PIK3CA in all six individuals, and mutant allele frequencies ranged from 3% to 30% in affected tissue from multiple embryonic lineages. Interestingly, these same mutations have been identified in cancer cells, in which they increase phosphoinositide-3-kinase activity. We conclude that CLOVES is caused by postzygotic activating mutations in PIK3CA. The application of similar sequencing strategies will probably identify additional genetic causes for sporadically occurring, nonheritable malformations. 相似文献
9.
J Klein J Gonzalez J Duchene L Esposito JP Pradère E Neau C Delage D Calise A Ahluwalia P Carayon JB Pesquero M Bader JP Schanstra JL Bascands 《FASEB journal》2009,23(1):134-142
Renal fibrosis is the common histological feature of advanced glomerular and tubulointerstitial disease leading to end-stage renal disease (ESRD). However, specific antifibrotic therapies to slow down the evolution to ESRD are still absent. Because persistent inflammation is a key event in the development of fibrosis, we hypothesized that the proinflammatory kinin B1 receptor (B1R) could be such a new target. Here we show that, in the unilateral ureteral obstruction model of renal fibrosis, the B1R is overexpressed and that delayed treatment with an orally active nonpeptide B1R antagonist blocks macrophage infiltration, leading to a reversal of the level of renal fibrosis. In vivo bone marrow transplantation studies as well as in vitro studies on renal cells show that part of this antifibrotic mechanism of B1R blockade involves a direct effect on resident renal cells by inhibiting chemokine CCL2 and CCL7 expression. These findings suggest that blocking the B1R is a promising antifibrotic therapy. 相似文献
10.