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1.
Uppal S Diggle CP Carr IM Fishwick CW Ahmed M Ibrahim GH Helliwell PS Latos-Bieleńska A Phillips SE Markham AF Bennett CP Bonthron DT 《Nature genetics》2008,40(6):789-793
Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology. 相似文献
2.
Guinea-pig respiratory and serum antibody responses were enhanced following exposure to aerosols of bovine IgG2 dissolved in solutions of sodium dodecylbenzene sulphate (SDBS). Enhanced response was seen in both primary and secondary immunization. Cell-mediated immune response (indirect macrophage migration influencing test) was not altered by SDBS. Results are discussed with a view to the possible utility of SDBS as adjuvant for prophylactic immunization. 相似文献
3.
电力系统负荷预测是电力系统发电计划的重要组成部分,也是电力系统经济运行的基础。本文在应用GM(1,1)模型的基础上,建立了两种应用残差对预测数据进修正的模型。实例表明本文提出的方法较传统GM(1,1)模型有更高的精度。 相似文献
4.
Productive dual infection of human CD4+ T lymphocytes by HIV-1 and HHV-6 总被引:27,自引:0,他引:27
P Lusso B Ensoli P D Markham D V Ablashi S Z Salahuddin E Tschachler F Wong-Staal R C Gallo 《Nature》1989,337(6205):370-373
Although infection by HIV-1 has been implicated as the primary cause of AIDS and related disorders, cofactorial mechanisms may be involved in the pathogenesis of the disease. For example, several viruses commonly detected in AIDS patients and capable of transactivating the long terminal repeat of HIV-1, such as herpesviruses, papovaviruses, adenoviruses and HTLV-I have been suggested as potential cofactors. Another candidate is human herpesvirus-6 (HHV-6, originally designated human B-lymphotropic virus), which has not only been identified in most patients with AIDS by virus isolation, DNA amplification techniques and serological analysis, but is also predominantly tropic and cytopathic in vitro for CD4+ T lymphocytes. Here we demonstrate that HHV-6 and HIV-1 can productively co-infect individual human CD4+ T lymphocytes, resulting in accelerated HIV-1 expression and cellular death. We also present evidence that HHV-6 transactivates the HIV-1 long terminal repeat (LTR). These observations indicate that HHV-6 might contribute directly or indirectly to the depletion of CD4+ T cells in AIDS. 相似文献
5.
Total synthesis of a human leukocyte interferon gene 总被引:27,自引:0,他引:27
M D Edge A R Green G R Heathcliffe P A Meacock W Schuch D B Scanlon T C Atkinson C R Newton A F Markham 《Nature》1981,292(5825):756-762
A 514-base pair fragment of double-stranded DNA coding for human interferon-alpha 1 (166 amino acid residues), and containing initiation and termination signals plus appropriate restriction enzyme sites for plasmid insertion, has been totally synthesized. The synthesis involved preparation of 66 oligodeoxyribonucleotides, ranging in size from 14 to 21 residues, plus 1 deoxydecanucleotide, by rapid, solid phase procedures, and enzymatic ligation of the oligonucleotides. After ligation of the synthetic gene to a plasmid vector and transformation of Escherichia coli, clones containing the anticipated gene sequence were obtained. 相似文献
6.
Logan CV Lucke B Pottinger C Abdelhamed ZA Parry DA Szymanska K Diggle CP van Riesen A Morgan JE Markham G Ellis I Manzur AY Markham AF Shires M Helliwell T Scoto M Hübner C Bonthron DT Taylor GR Sheridan E Muntoni F Carr IM Schuelke M Johnson CA 《Nature genetics》2011,43(12):1189-1192
Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 相似文献
7.
Sequence requirements for nuclear location of simian virus 40 large-T antigen 总被引:203,自引:0,他引:203
A point mutation in the simian virus 40 large-T gene, which was generated by mixed oligonucleotide mutagenesis and resulted in the conversion of Lys 128 to Thr, produced a large-T antigen that was detected in the cytoplasm but not the nucleus of cells. Deletions within the surrounding sequence Lys-128Lys-Lys-Arg-Lys-Val-Glu also produce cytoplasmic large-T and define a region of the protein involved in nuclear location. 相似文献
8.
Summary Guinea-pig respiratory and serum antibody responses were enhanced following exposure to aerosols of bovine IgG2 dissolved in solutions of sodium dodecylbenzene sulphate (SDBS). Enhanced response was seen in both primary and secondary immunization. Cell-mediated immune response (indirect macrophage migration influencing test) was not altered by SDBS. Results are discussed with a view to the possible utility of SDBS as adjuvant for prophylactic immunization.Acknowledgment. This research was supported by a grant from the Ontario Ministry of Health. The technical assistance of Ms Judy Little is gratefully acknowledged. 相似文献
9.
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. 总被引:15,自引:0,他引:15
A R Curtis C Fey C M Morris L A Bindoff P G Ince P F Chinnery A Coulthard M J Jackson A P Jackson D P McHale D Hay W A Barker A F Markham D Bates A Curtis J Burn 《Nature genetics》2001,28(4):350-354
We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. We mapped the disorder, by linkage analysis, to 19q13.3, which contains the gene for ferritin light polypeptide (FTL). We found an adenine insertion at position 460-461 that is predicted to alter carboxy-terminal residues of the gene product. Brain histochemistry disclosed abnormal aggregates of ferritin and iron. Low serum ferritin levels also characterized patients. Ferritin, the main iron storage protein, is composed of 24 subunits of two types (heavy, H and light, L) which form a soluble, hollow sphere. Brain iron deposition increases normally with age, especially in the basal ganglia, and is a suspected causative factor in several neurodegenerative diseases in which it correlates with visible pathology, possibly by its involvement in toxic free-radical reactions. We found the same mutation in five apparently unrelated subjects with similar extrapyramidal symptoms. An abnormality in ferritin strongly indicates a primary function for iron in the pathogenesis of this new disease, for which we propose the name 'neuroferritinopathy'. 相似文献
10.
Five species of the bopyrid genus Parapenaeon are reported from China, of which three are new to science, and one, Parapenaeon expansa Bourdon, 1979, is a new record. New species are Parapenaeon calculosa, sp. nov., Parapenaeon diatropa, sp. nov. and Parapenaeon sicyoniae, sp. nov., from the East and South China Seas. The female of each new species has six pleomeres, no lateral plates on the sixth pleomere, and biramous uropods, characters that place them in the genus Parapenaeon Richardson, 1904. Each can be distinguished from previously described species of the genus Parapenaeon in body shape, by the characters of oostegite 1, the barbula, brood pouch, pleopods and uropods of the females. A table including all of the currently recognized species of Parapenaeon with type localities, known geographical distribution and reported hosts, is given. A key to the recorded species of Parapenaeon Richardson, 1904 is provided, as is a new diagnosis of the genus.http://zoobank.org/urn:lsid:zoobank.org:pub:35CD12BB-D1F3-48DF-BABB-2EAA3030395B 相似文献