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81.
Several Recombinant Capsid Proteins of Equine Rhinitis A Virus Show Potential as Diagnostic Antigens 下载免费PDF全文
Fan Li Rachel A. Stevenson Brendan S. Crabb Michael J. Studdert Carol A. Hartley 《Clinical and Vaccine Immunology : CVI》2005,12(6):778-785
Equine rhinitis A virus (ERAV) is a significant pathogen of horses and is also closely related to Foot-and-mouth disease virus (FMDV). Despite these facts, knowledge of the prevalence and importance of ERAV infections remains limited, largely due to the absence of a simple, robust diagnostic assay. In this study, we compared the antigenicities of recombinant full-length and fragmented ERAV capsid proteins expressed in Escherichia coli by using sera from experimentally infected and naturally exposed horses. We found that, from the range of antigens tested, recombinant proteins encompassing the C-terminal region of VP1, full-length VP2, and the N-terminal region of VP2 reacted specifically with antibodies present in sera from each of the five experimentally infected horses examined. Antibodies to epitopes on VP2 (both native and recombinant forms) persisted longer postinfection (>105 days) than antibodies specific for epitopes on other fragments. Our data also suggest that B-cell epitopes within the C terminus of VP1 and N terminus of VP2 contribute to a large proportion of the total reactivity of recombinant VP1 and VP2, respectively. Importantly, the reactivity of these VP1 and VP2 recombinant proteins in enzyme-linked immunosorbent assays (ELISAs) correlated well with the results from a range of native antigen-based serological assays using sera from 12 field horses. This study provides promising candidates for development of a diagnostic ERAV ELISA. 相似文献
82.
Rachel Rabin Yoel Hirsch Martin M. Johansson Joseph Ekstein David A. Zeevi Beth Keena Elaine H. Zackai John Pappas 《American journal of medical genetics. Part A》2019,179(10):2144-2151
Warsaw breakage syndrome (WABS), caused by bi‐allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre‐ and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia. The DDX11 gene codes for an iron–sulfur DNA helicase in the Superfamily 2 helicases and plays an important role in genomic stability and maintenance. Fourteen individuals with WABS have been previously reported in the medical literature. Affected individuals have been of various ethnic backgrounds with different pathogenic variants. We report two unrelated individuals of Ashkenazi Jewish descent affected with WABS, who are homozygous for the c.1763‐1G>C variant in the DDX11 gene. Their phenotype is consistent with previously reported individuals. RNA studies showed that this variant causes an alternative splice acceptor site leading to a frameshift in the open reading frame. Carrier screening of the c.1763‐1G>C variant in the Jewish population revealed a high carrier frequency of 1 in 68 in the Ashkenazi Jewish population. Due to the high carrier frequency and the low number of affected individuals, we hypothesize a high rate of miscarriage of homozygous fetuses and/or subfertility for carrier couples. If the carrier frequency is reproducible in additional Ashkenazi Jewish populations, we suggest including DDX11 to Ashkenazi Jewish carrier screening panels. 相似文献
83.
B1b lymphocytes confer T cell-independent long-lasting immunity 总被引:6,自引:0,他引:6
Many microbial pathogens employ antigenic variation as a strategy to evade the immune system, posing a challenge in vaccine development. To understand the requirements for immunity against such pathogens, we studied Borrelia hermsii, a relapsing fever bacterium. We found that mice deficient in T, follicular B, marginal zone B, or B1a lymphocytes resolved B. hersmii bacteremia and became resistant to reinfection. The resolution of bacteremia coincided with an expansion and persistence of B1b lymphocytes, and purified B1b lymphocytes from convalescent wild-type or TCR-betaxdelta-/- mice conferred immunity to Rag1-/- mice. The B1b lymphocytes in the reconstituted Rag1-/- mice provided long-lasting immunity by rapidly generating B. hermsii-specific IgM but not IgG upon bacterial challenge. Unmutated IgM is sufficient to eliminate B. hermsii, because AID-/- mice deficient in somatic hypermutation and class switch recombination efficiently resolved all bacteremic episodes. These data demonstrate that B1b lymphocytes can provide long-lasting T cell-independent IgM memory. 相似文献
84.
Moshe Frydman Rachel Straussberg Ruth Shomrat Hans Goebel Cyril Legum Yossi Shiloh 《American journal of medical genetics. Part A》1995,58(3):209-212
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. “Idiopathic” hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia. © 1995 Wiley-Liss, Inc. 相似文献
85.
Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families were unrelated. Two novel truncating mutations were found: R254X, a single-base mutation at cDNA position 981 (c.981C>T); and Y387X (c.1382T>G). Two probands, one each from Taiwan and Macau, were homozygous for R254X. The other proband from Taiwan carried both R254X and Y387X. Two additional heterozygote carriers of R254X were also identified among 250 control samples, while none was detected for Y387X. The population carrier rate for R254X would be about 1 in 125. Haplotypes of R254X alleles were examined and patients homozygous for R254X were also homozygous for the same haplotype of intragenic and microsatellites markers. Analysis of population frequencies of haplotypes revealed that the chance of 4 chromosomes having arisen as independent events was 0.016. We conclude that R254X is probably a founder mutation in Chinese. Other previously reported mutations found in the Japanese population were also screening in 250 control samples but no carrier was identified, indicating that they were either very rare or not present in Southern Chinese. 相似文献
86.
Franco Laccone Ivonne Jünemann Sharon Whatley Rhian Morgan Rachel Butler Peter Huppke David Ravine 《Human mutation》2004,23(4):395-395
The original article to which this Erratum refers was published in Human Mutation 23:234–244 Human Mutation(2004) 23(3) 234–244 相似文献
87.
Taylor Rachel R.; Egan Andrea; McGuinness David; Jepson Annette; Adair Richard; Drakely Chris; Riley Eleanor 《International immunology》1996,8(6):905-915
Malaria infection induces the production of serum antibodiesto a variety of malaria antigens but the prevalence of antibodiesto any particular antigen ins typically mucb less than 100%.It has been assumed that non-responsiveness to defined antigensin malaria immune subjects is due to HLA mediated restricutionof the Immune response. In this study we have investigated therole of HLA and non-HLA genes in the antibody response to twomerozoite surface antigens (MSP1 and MSP2) and a sexual stageantigen (Pfs260/230) opf P{lasmodium falcpartum, and concludethat host genotype is not a major determinant of responsiveness.Although antibody levels vary in accordance with seasonal variationsin malaria transmission in semi-immune children, antibiody levelsremain stable in clncall immine adults. 相似文献
88.
To test the hypothesis that voluntary heart rate (HR) control is possible with simultaneous muscular effort, 8 male subjects were trained in feedback assisted bidirectional HR control, and also practiced hand grip exercises requiring different levels of effort for 3 consecutive daily sessions. In a fourth session subjects were required to increase and decrease HR while simultaneously performing muscle contractions of 0%, 10%, 30% and 50% of maximum voluntary contractions. Substantial and reliable variations in HR were produced by instructions and by muscular effort during the first 3 sessions; and in the fourth session bidirectional HR control continued even with the relatively elevated baselines induced by muscular effort. Concomitant chin EMG levels did not vary with degree of muscular effort nor with instructions to increase or decrease HR, but increased over the course of any type of trial. Discussion suggests the use of artificially elevated baselines as a strategy for studying HR deceleration and concludes that the present study provides strong evidence of subjects' abilities to voluntarily control HR during muscular effort. This conclusion lends support to the notion that biofeedback therapies may be of clinical utility in real life by modulating the eliciting effects of stressors. 相似文献
89.
Cloning and analysis of the murine Fanconi anemia group C cDNA 总被引:7,自引:1,他引:7
Fanconi anemia (FA) is one of a group of disorders characterizedat the cellular level by a combination of hypersensitivity toDNA-damaging agents, chromosomal instability, and defectiveDNA repair. Clinical features of FA include pancytopenia, oftenaccompanied by specific congenital malformations, and a predispositionto leukemia. Since the hematological manifestations are thecritical defect in terms of prognosis, FA is a candidate diseasefor gene replacement therapy, and the development of a mousemodel system is essential for the initial stages of this work.Previously, we have cloned the gene defective in FA group Cby complementation of the intrinsic sensitivity of FA cellsto DNA cross-linking agents. We have now cloned the murine homologueof the human FACC cDNA. The mouse cDNA (Facc) shares 79% aminoacid sequence similarity with the human gene product. The expressionof the mouse cDNA in human FA(C) cells restores the cellulardrug sensitivity to normal levels. Thus, the function of theprotein has been conserved despite the significant sequencedivergence. PCR analysis of mouse tissue RNA reveals that thegene is expressed in all adult tissues, while in situ RNA hybridizationexperiments show tissue specific expression at late stages offetal development. Cross-hybridizing sequences exist in DNAfrom other mammals, chicken and Drosophila. These results supportthe hypothesis that the FACC gene product has a role in a basicaspect of cellular protection against DNA damaging agents andthat this function has been conserved during evolution. 相似文献
90.
Laurie Miller Brotman Kathleen Kiely Gouley Daniel Chesir-Teran Tracy Dennis Rachel G Klein Patrick Shrout 《Journal of clinical child and adolescent psychology》2005,34(4):724-734
This study investigated the immediate impact of an 8-month center- and home-based prevention program for preschoolers at high risk for conduct problems. We report immediate program effects on observed and self-rated parenting practices and observed child behavior with peers. Ninety-nine preschool-age siblings of adjudicated youths and their families were randomly assigned to an enhanced version of the Incredible Years Series (Webster-Stratton, 1989; n = 50) or to a no-intervention control condition (n = 49). In an intent-to-treat design, the intervention yielded significant effects on negative parenting, parental stimulation for learning, and child social competence with peers. Improvements in negative parenting, stimulation for learning, and child social competence support the potential of the intervention to prevent later conduct problems in high-risk children. 相似文献