排序方式: 共有9条查询结果,搜索用时 93 毫秒
1
1.
Krakow D Robertson SP King LM Morgan T Sebald ET Bertolotto C Wachsmann-Hogiu S Acuna D Shapiro SS Takafuta T Aftimos S Kim CA Firth H Steiner CE Cormier-Daire V Superti-Furga A Bonafe L Graham JM Grix A Bacino CA Allanson J Bialer MG Lachman RS Rimoin DL Cohn DH 《Nature genetics》2004,36(4):405-410
The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serving as scaffolds on which intracellular signaling and protein trafficking pathways are organized (reviewed in refs. 1,2). We identified mutations in the gene encoding filamin B in four human skeletal disorders. We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). We found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse. These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein. 相似文献
2.
Daniel S. Yeung Wing W. Y. Ng Aki P. F. Chan Patrick P. K. Chan Michael Firth Eric C. C. Tsang 《系统科学与系统工程学报(英文版)》2007,16(2):166-180
Company bankruptcies cost billions of dollars in losses to banks each year. Thus credit risk prediction is a critical part of a bank's loan approval decision process. Traditional financial models for credit risk prediction are no longer adequate for describing today's complex relationship between the financial health and potential bankruptcy of a company. In this work, a multiple classifier system (embedded in a multiple intelligent agent system) is proposed to predict the financial health of a company. In our model, each individual agent (classifier) makes a prediction on the likelihood of credit risk based on only partial information of the company. Each of the agents is an expert, but has limited knowledge (represented by features) about the company. The decisions of all agents are combined together to form a final credit risk prediction. Experiments show that our model out-performs other existing methods using the benchmarking Compustat American Corporations dataset. 相似文献
3.
J. A. Firth 《Cellular and molecular life sciences : CMLS》1977,33(8):1093-1094
Summary Phosphatase activity identified with Na+–K+-ATPase was localized at the basal surface of cerebral cortical capillary endothelium by perfusion with a p-nitrophenyl phosphate-strontium medium. The relationship of this to the blood-brain barrier to K+ is discussed. 相似文献
4.
5.
Shaw-Smith C Pittman AM Willatt L Martin H Rickman L Gribble S Curley R Cumming S Dunn C Kalaitzopoulos D Porter K Prigmore E Krepischi-Santos AC Varela MC Koiffmann CP Lees AJ Rosenberg C Firth HV de Silva R Carter NP 《Nature genetics》2006,38(9):1032-1037
Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination. 相似文献
6.
J A Firth 《Experientia》1977,33(8):1093-1094
Phosphatase activity identified with Na+-K+-ATPase was localized at the basal surface of cerebral cortical capillary endothelium by perfusion with a p-nitrophenyl phosphate-strontium medium. The relationship of this to the blood-brain barrier to K+ is discussed. 相似文献
7.
Macfarlan TS Gifford WD Driscoll S Lettieri K Rowe HM Bonanomi D Firth A Singer O Trono D Pfaff SL 《Nature》2012,487(7405):57-63
8.
9.
Hanks S Coleman K Reid S Plaja A Firth H Fitzpatrick D Kidd A Méhes K Nash R Robin N Shannon N Tolmie J Swansbury J Irrthum A Douglas J Rahman N 《Nature genetics》2004,36(11):1159-1161
Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, we identified truncating and missense mutations of BUB1B, which encodes BUBR1, a key protein in the mitotic spindle checkpoint. These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development. 相似文献
1