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1.
B. Schweiger C. Kücherer C. Fleischer H. v. Spreckelsen P. Zablocki-Kaiser G. Pauli 《Cellular and molecular life sciences : CMLS》1996,52(4):308-309
Conclusions The application of PCR and techniques confirming the specificity of PCR products in routine diagnostic laboratories, requires that the procedures are simple and reproducible. The microtitre plate assay we described for detection of HIV-1 is sensitive, simple, rapid and reproducible. The DEIA test is perfectly compatible with standard enzyme linked immunosorbent assay equipment, permitting the processing of a large number of samples. Moreover, the ability to analyze DNA extracted from dried blood specimens, as demonstrated in this study, allows the long-term storage of blood samples even at elevated temperatures and after transport over long distances. 相似文献
2.
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 总被引:23,自引:0,他引:23
J R Hurvitz W M Suwairi W Van Hul H El-Shanti A Superti-Furga J Roudier D Holderbaum R M Pauli J K Herd E V Van Hul H Rezai-Delui E Legius M Le Merrer J Al-Alami S A Bahabri M L Warman 《Nature genetics》1999,23(1):94-98
Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis. Its population incidence has been estimated at 1 per million in the United Kingdom, but it is likely to be higher in the Middle East and Gulf States. Affected individuals are asymptomatic in early childhood. Signs and symptoms of disease typically develop between three and eight years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations have not been reported in PPD. Cartilage appears to be the primary affected tissue, and in one patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis. 相似文献
3.
Additional records of the spotted bat ( Euderma inaculatum ) from Inyo County and Shasta County, California, are reported. The latter record represents the northernmost locale for this species in California. 相似文献
4.
Detection of caprine arthritis-encephalitis- and maedi-visna viruses using the polymerase chain reaction 总被引:3,自引:0,他引:3
Summary The polymerase chain reaction (PCR) was used to demonstrate proviral DNA of lentiviruses of small ruminants in cultured cells. Primers for the Taq polymerase were selected in the GAG gene of Icelandic maedi-visna virus and POL gene of caprine arthritis-encephalitis (CAE) virus. Using PCR, proviral DNA of CAE virus was detected at 1 day post infection, 4 days beforeviral protein could be demonstrated using a sensitive immunoblotting protocol and 6 days before the appearance of syncytia. Primers derived from the published sequence of CAE virus successfully primed for the synthesis of homologous virus and Icelandic maedi-visna viruss but not for maedi-visna virus isolated in The Netherlands. In contrast, primers derived from the GAG region of Icelandic maedi-visna virus allowed the amplification of DNA of homologous virus, maedi-visna virus isolated in The Netherlands as well as CAE virus. 相似文献
5.
Perception of olfactory and intranasal trigeminal stimuli following cutaneous electrical stimulation
A. Livermore T. Hummel E. Pauli G. Kobal 《Cellular and molecular life sciences : CMLS》1993,49(10):840-842
Based on previous research it may be hypothesized that the perception of odorants is modified by an axon reflex emanating from trigeminal afferents activated via the skin and/or the intranasal respiratory epithelium. The present experiment investigated the effects of trigeminal cutaneous stimulation on intensity estimates of intranasal chemical stimuli. While the left nostril was stimulated chemically with olfactory and trigeminal stimulants, four regions of the face were stimulated electrically. Intensity estimates of the chemical stimuli tended to increase after cutaneous electrical stimulation which may be interpreted in terms of response priming. The effect of electrical stimulation did not differ at the 4 stimulation sites. The results argue against the hypothesis that the processing of intranasal chemical stimuli is modified peripherally by cutaneous trigeminal excitation. 相似文献
6.
Simpson MA Irving MD Asilmaz E Gray MJ Dafou D Elmslie FV Mansour S Holder SE Brain CE Burton BK Kim KH Pauli RM Aftimos S Stewart H Kim CA Holder-Espinasse M Robertson SP Drake WM Trembath RC 《Nature genetics》2011,43(4):303-305
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling. 相似文献
7.
8.
Brun C Suter D Pauli C Dunant P Lochmüller H Burgunder JM Schümperli D Weis J 《Cellular and molecular life sciences : CMLS》2003,60(3):557-566
Most cases of Duchenne muscular dystrophy are caused by dystrophin gene mutations that disrupt the mRNA reading frame. Artificial exclusion (skipping) of a single exon would often restore the reading frame, giving rise to a shorter, but still functional dystrophin protein. Here, we analyzed the ability of antisense U7 small nuclear (sn)RNA derivatives to alter dystrophin pre-mRNA splicing. As a proof of principle, we first targeted the splice sites flanking exon 23 of dystrophin pre-mRNA in the wild-type muscle cell line C2C12 and showed precise exon 23 skipping. The same strategy was then successfully adapted to dystrophic immortalized mdx muscle cells where exon-23-skipped dystrophin mRNA rescued dystrophin protein synthesis. Moreover, we observed a stimulation of antisense U7 snRNA expression by the murine muscle creatine kinase enhancer. These results demonstrate that alteration of dystrophin pre-mRNA splicing could correct dystrophin gene mutations by expression of specific U7 snRNA constructs. 相似文献
9.
Asymmetric unit membrane (AUM) is a component of the luminal membrane of urinary bladder in many species. In normal human adults it is inconspicuous, but it becomes prominent following incidental exposure to therapeutic irradiation. 相似文献
10.
J. Alroy B. U. Pauli R. S. Weinstein F. B. Merk 《Cellular and molecular life sciences : CMLS》1977,33(12):1645-1647
Summary Asymmetric unit membrane (AUM) is a component of the luminal membrane of urinary bladder in many species. In normal human adults it is inconspicuous, but it becomes prominent following incidental exposure to therapeutic irradiation.This work was supported by the Otho S.A. Sprague Memorial Institute. 相似文献