排序方式: 共有48条查询结果,搜索用时 991 毫秒
1.
2.
Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes 总被引:5,自引:4,他引:1
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Lindsay A. Farrer Kathleen S. Arnos James H. Asher Clinton T. Baldwin Scott R. Diehl Thomas B. Friedman Jacquie Greenberg Kenneth M. Grundfast Christopher Hoth Anil K. Lalwani Barbara Landa Kate Leverton Aubrey Milunsky Robert Morell Walter E. Nance Valerie Newton Rajkumar Ramesar Valluri S. Rao Jennifer E. Reynolds Theresa B. San Agustin Edward R. Wilcox Ingrid Winship Andrew P. Read 《American journal of human genetics》1994,55(4):728-737
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between −2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. 相似文献
3.
Roberto?H?Higa Roberto?C?Togawa Arnaldo?J?Montagner Juliana?CF?Palandrani Igor?KS?Okimoto Paula?R?Kuser Michel?EB?Yamagishi Adauto?L?Mancini Goran?NeshichEmail author 《BMC bioinformatics》2004,5(1):107
Background
The integration of many aspects of protein/DNA structure analysis is an important requirement for software products in general area of structural bioinformatics. In fact, there are too few software packages on the internet which can be described as successful in this respect. We might say that what is still missing is publicly available, web based software for interactive analysis of the sequence/structure/function of proteins and their complexes with DNA and ligands. Some of existing software packages do have certain level of integration and do offer analysis of several structure related parameters, however not to the extent generally demanded by a user. 相似文献4.
Bevan KS Chung Suresh Selvarasu Andrea Camattari Jimyoung Ryu Hyeokweon Lee Jungoh Ahn Hongweon Lee Dong-Yup Lee 《Microbial cell factories》2010,9(1):50
Background
Pichia pastoris has been recognized as an effective host for recombinant protein production. A number of studies have been reported for improving this expression system. However, its physiology and cellular metabolism still remained largely uncharacterized. Thus, it is highly desirable to establish a systems biotechnological framework, in which a comprehensive in silico model of P. pastoris can be employed together with high throughput experimental data analysis, for better understanding of the methylotrophic yeast's metabolism. 相似文献5.
6.
This commentary highlights the effectiveness of optoelectronic properties of polymer semiconductors based on recent results emerging from our laboratory, where these materials are explored as artificial receptors for interfacing with the visual systems. Organic semiconductors based polymer layers in contact with physiological media exhibit interesting photophysical features, which mimic certain natural photoreceptors, including those in the retina. The availability of such optoelectronic materials opens up a gateway to utilize these structures as neuronal interfaces for stimulating retinal ganglion cells. In a recently reported work entitled “A polymer optoelectronic interface provides visual cues to a blind retina,” we utilized a specific configuration of a polymer semiconductor device structure to elicit neuronal activity in a blind retina upon photoexcitation. The elicited neuronal signals were found to have several features that followed the optoelectronic response of the polymer film. More importantly, the polymer-induced retinal response resembled the natural response of the retina to photoexcitation. These observations open up a promising material alternative for artificial retina applications. 相似文献
7.
Background
Influenza pandemic remains a serious threat to human health. Viruses of avian origin, H5N1, H7N7 and H9N2, have repeatedly crossed the species barrier to infect humans. Recently, a novel strain originated from swine has evolved to a pandemic. This study aims at improving our understanding on the pathogenic mechanism of influenza viruses, in particular the role of non-structural (NS1) protein in inducing pro-inflammatory and apoptotic responses.Methods
Human lung epithelial cells (NCI-H292) was used as an in-vitro model to study cytokine/chemokine production and apoptosis induced by transfection of NS1 mRNA encoded by seven infleunza subtypes (seasonal and pandemic H1, H2, H3, H5, H7, and H9), respectively.Results
The results showed that CXCL-10/IP10 was most prominently induced (> 1000 folds) and IL-6 was slightly induced (< 10 folds) by all subtypes. A subtype-dependent pattern was observed for CCL-2/MCP-1, CCL3/MIP-1α, CCL-5/RANTES and CXCL-9/MIG; where induction by H5N1 was much higher than all other subtypes examined. All subtypes induced a similar temporal profile of apoptosis following transfection. The level of apoptosis induced by H5N1 was remarkably higher than all others. The cytokine/chemokine and apoptosis inducing ability of the 2009 pandemic H1N1 was similar to previous seasonal strains.Conclusions
In conclusion, the NS1 protein encoded by H5N1 carries a remarkably different property as compared to other avian and human subtypes, and is one of the keys to its high pathogenicity. NCI-H292 cells system proves to be a good in-vitro model to delineate the property of NS1 proteins.8.
Anita L. DeStefano L. Adrienne Cupples Kathleen S. Arnos J. H. Jr. Asher Clinton T. Baldwin Susan Blanton Melisa L. Carey Elias O. da Silva T. B. Friedman Jacquie Greenberg Anil K. Lalwani Aubrey Milunsky Walter E. Nance Arti Pandya Rajkumar S. Ramesar Andrew P. Read May Tassabejhi Edward R. Wilcox L. A. Farrer 《Human genetics》1998,102(5):499-506
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary
abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit
only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect,
clinical and genotype data on 48 families (271 WS individuals) collected by members of the Waardenburg Consortium were pooled.
Forty-two unique mutations in the PAX3 gene, previously identified in these families, were grouped in five mutation categories: amino acid (AA) substitution in
the paired domain, AA substitution in the homeodomain, deletion of the Ser-Thr-Pro-rich region, deletion of the homeodomain
and the Ser-Thr-Pro-rich region, and deletion of the entire gene. These mutation classes are based on the structure of the
PAX3 gene and were chosen to group mutations predicted to have similar defects in the gene product. Association between mutation
class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using
generalized estimating equations, which allowed for incorporation of a correlation structure that accounts for potential similarity
among members of the same family. Odds for the presence of eye pigment abnormality, white forelock, and skin hypopigmentation
were 2, 8, and 5 times greater, respectively, for individuals with deletions of the homeodomain and the Pro-Ser-Thr-rich region
compared to individuals with an AA substitution in the homeodomain. Odds ratios that differ significantly from 1.0 for these
traits may indicate that the gene products resulting from different classes of mutations act differently in the expression
of WS. Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for AA substitution in the
paired domain compared with AA substitution in the homeodomain, this odds ratio did not differ significantly from 1.0.
Received: 27 July 1997 / Accepted: 9 December 1997 相似文献
9.
Eiko?Miyazaki Kunio?Sasakifishssk@cc.kochi-u.ac.jp" title="KS fishssk@cc.kochi-u.ac.jp" itemprop="email" data-track="click" data-track-action="Email author" data-track-label="">Email author Takumi?Mitani Minoru?Ishida Shinji?Uehara 《Ichthyological Research》2004,51(3):256-262
Earlier opinions that Macroramphosus is monotypic are refuted, with two species apparently occurring in Japan (tentatively identified as M. gracilis and M. scolopax). In postsettlement young and adults, the former is characterized by a dark slender body (vs. red-orange and deep) and short second dorsal fin spine with a smooth posterior margin (vs. long spine with a serrated margin). Food habits also differ between the two species, which are either plankton or benthos feeders. Two types of Macroramphosus larvae and juveniles occurring at the surface were recognized, one having a straight ventral body profile of the body (identified here as M. gracilis) and the other having a notch in the anal region. The dark body of postsettlement M. gracilis is considered to be a retention of the character suited to the neustonic distribution of the larval and juvenile stages, the species remaining to ca. 40mm in standard length (SL) in that habitat (vs. to ca. 12mm SL in M. scolopax). 相似文献
10.