排序方式: 共有8条查询结果,搜索用时 15 毫秒
1
1.
Résumé Des membres furent transplantés chez des tortues embryonnaires deChelydra serpentina en combinaisons allogénique et xénogénique. Ces greffes survivaient longtemps, mais étaient usuellement rejettées de façon chronique.
Supported by U.S. Public Health Service Grants No. 8 RO1 HD 03484 and No. 1 FO2 AM 33,123 from the National Institutes of Health. 相似文献
Supported by U.S. Public Health Service Grants No. 8 RO1 HD 03484 and No. 1 FO2 AM 33,123 from the National Institutes of Health. 相似文献
2.
Kalscheuer VM Freude K Musante L Jensen LR Yntema HG Gécz J Sefiani A Hoffmann K Moser B Haas S Gurok U Haesler S Aranda B Nshedjan A Tzschach A Hartmann N Roloff TC Shoichet S Hagens O Tao J Van Bokhoven H Turner G Chelly J Moraine C Fryns JP Nuber U Hoeltzenbein M Scharff C Scherthan H Lenzner S Hamel BC Schweiger S Ropers HH 《Nature genetics》2003,35(4):313-315
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder. 相似文献
3.
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation 总被引:18,自引:0,他引:18
Kutsche K Yntema H Brandt A Jantke I Nothwang HG Orth U Boavida MG David D Chelly J Fryns JP Moraine C Ropers HH Hamel BC van Bokhoven H Gal A 《Nature genetics》2000,26(2):247-250
X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental retardation. So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9). The products of the latter two have been implicated in regulation of neural plasticity by controlling the activity of small GTPases of the Rho family. Here we report the identification of a new MRX gene, ARHGEF6 (also known as alphaPIX or Cool-2), encoding a protein with homology to guanine nucleotide exchange factors for Rho GTPases (Rho GEF). Molecular analysis of a reciprocal X/21 translocation in a male with mental retardation showed that this gene in Xq26 was disrupted by the rearrangement. Mutation screening of 119 patients with nonspecific mental retardation revealed a mutation in the first intron of ARHGEF6 (IVS1-11T-->C) in all affected males in a large Dutch family. The mutation resulted in preferential skipping of exon 2, predicting a protein lacking 28 amino acids. ARHGEF6 is the eighth MRX gene identified so far and the third such gene to encode a protein that interacts with Rho GTPases. 相似文献
4.
5.
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome 总被引:1,自引:0,他引:1
Koolen DA Kramer JM Neveling K Nillesen WM Moore-Barton HL Elmslie FV Toutain A Amiel J Malan V Tsai AC Cheung SW Gilissen C Verwiel ET Martens S Feuth T Bongers EM de Vries P Scheffer H Vissers LE de Brouwer AP Brunner HG Veltman JA Schenck A Yntema HG de Vries BB 《Nature genetics》2012,44(6):639-641
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes. 相似文献
6.
The problem of fault-tolerant controller design for a class of polytopic uncertain systems with actuator faults is studied in this paper. The actuator faults are presented as a more general and practical continuous fault model. Based on the affine quadratic stability (AQS), the stability of the polytopic uncertain system is replaced by the stability at all corners of the polytope. For a wide range of problems including H∞ and mixed H 2 /H∞ controller design, sufficient conditions are derived to guarantee the robust stability and performance of the closed-loop system in both normal and fault cases. In the framework of the linear matrix inequality (LMI) method, an iterative algorithm is developed to reduce conservativeness of the design procedure. The effectiveness of the proposed design is shown through a flight control example. 相似文献
7.
Yuxing Mao Ching Y.Suen Wei He .State Key Laboratory of Power Transmission Equipment & System Security New Technology Chongqing University Chongqing P.R.China .Centre for Pattern Recognition Machine Intelligence Concordia University Montreal QC HG M Canada 《系统工程与电子技术(英文版)》2011,(6):1003-1009
A new approach to extraction of affine invariant features of contour image and matching strategy is proposed for shape recognition.Firstly,the centroid distance and azimuth angle of each boundary point are computed.Then,with a prior-defined angle interval,all the points in the neighbor region of the sample point are considered to calculate the average distance for eliminating noise.After that,the centroid distance ratios(CDRs) of any two opposite contour points to the barycenter are achieved as the representation of the shape,which will be invariant to affine transformation.Since the angles of contour points will change non-linearly among affine related images,the CDRs should be resampled and combined sequentially to build one-by-one matching pairs of the corresponding points.The core issue is how to determine the angle positions for sampling,which can be regarded as an optimization problem of path planning.An ant colony optimization(ACO)-based path planning model with some constraints is presented to address this problem.Finally,the Euclidean distance is adopted to evaluate the similarity of shape features in different images.The experimental results demonstrate the efficiency of the proposed method in shape recognition with translation,scaling,rotation and distortion. 相似文献
8.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation 总被引:1,自引:0,他引:1
Meloni I Muscettola M Raynaud M Longo I Bruttini M Moizard MP Gomot M Chelly J des Portes V Fryns JP Ropers HH Magi B Bellan C Volpi N Yntema HG Lewis SE Schaffer JE Renieri A 《Nature genetics》2002,30(4):436-440
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up to 136 conditions leading to 'syndromic', or 'specific', mental retardation (MRXS) and 66 entries leading to 'nonspecific' mental retardation (MRX). For 9 of the 66 MRX entries, the causative gene has been identified. Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one mental retardation gene. Comparing the extent of deletion between individuals with ATS-MR and individuals with ATS alone allowed us to define a critical region for mental retardation of approximately 380 kb, containing four genes. Here we report the identification of two point mutations, one missense and one splice-site change, in the gene FACL4 in two families with nonspecific mental retardation. Analysis of enzymatic activity in lymphoblastoid cell lines from affected individuals of both families revealed low levels compared with normal cells, indicating that both mutations are null mutations. All carrier females with either point mutations or genomic deletions in FACL4 showed a completely skewed X-inactivation, suggesting that the gene influences survival advantage. FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism. 相似文献
1