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191.
Clinical and Molecular Characterization of Patients with Distal 11q Deletions 总被引:10,自引:0,他引:10 下载免费PDF全文
Laura A. Penny Marie Dell'Aquila Marilyn C. Jones JoAnn Bergoffen Christopher Cunniff Jean-Pierre Fryns Elizabeth Grace John M. Graham Boris Kousseff Teresa Mattina James Syme Lucille Voullaire Leopoldo Zelante Julie Zenger-Hain Oliver W. Jones Glen A. Evans 《American journal of human genetics》1995,56(3):676-683
Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q− patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912. 相似文献
192.
Therapy of bovine ocular squamous-cell carcinoma with local doses of interleukin-2: 67% complete regressions after 20 months of follow-up 总被引:1,自引:1,他引:0
F. W. Willem Den Otter Graham Hill Wim R. Klein Jan Willem Koten Peter A. Steerenberg Pieter H. M. De Mulder Christopher Rhode Rachel Stewart Joop A. J. Faber E. Joost Ruitenberg Victor P. M. G. Rutten 《Cancer immunology, immunotherapy : CII》1995,41(1):10-14
We have tested the therapeutic potency of peritumorally injected low doses of interleukin-2(IL-2). Seventy tumours of the bovine ocular squamous-cell carcinoma (BOSCC), 1–3 cm in diameter, were treated with 5000, 20 000 or 200 000 U IL-2 from Eurocetus (Chiron) to find the optimal dose for treatment. Injections were given peritumorally on Monday to Friday on 2 consecutive weeks. The size of the tumours was measured before treatment and 1, 3, 4, 9 and 20 months after treatment. After 9 months complete regression was observed in 89% of the tumours treated with 5000 U IL-2, 80% treated with 20 000 U and 67% treated with 200 000 U. After 20 months, there was complete regression of 35%, 31% and 67% of the tumours respectively. The 9-and 20-month results of the 200 000-U treatment are significantly better than those of the 5000-U and 20 000-U treatments taken together. This protocol may be useful to treat advanced inoperable tumours (e.g. of the nasopharynx or skin) of human patients. 相似文献
193.
Genetics of high level penicillin resistance in clinical isolates of Streptococcus pneumoniae 总被引:5,自引:0,他引:5
Victoria A Barcus Kiran Ghanekar Maggie Yeo Tracey J Coffey Christopher G Dowson 《FEMS microbiology letters》1995,126(3):299-303
Abstract Mosaic penicillin-binding proteins (PBP) 1A, 2X and 2B genes were cloned from four clinical isolates of Streptococcus pneumoniae with levels of susceptibility to penicillin ranging from 1.5 to 16 μg benzylpenicillin ml−1 . In each instance it was possible to transform either the penicillin-sensitive laboratory strain R6 or a sensitive clinical isolate 110K/70 to the full level of penicillin resistance with these three penicillin-binding proteins alone. Until now it has not been possible to clearly determine whether alterations to PBP1A, 2X and 2B alone were sufficient to attain high level penicillin resistance. 相似文献
194.
195.
Joseph R. Lacy Christopher M. Filley Michael P. Earnest Neill R. Graff-Radford 《The Western journal of medicine》1984,141(3):329-334
Of 131 young (17 to 44 years) and middle-aged (45 to 55 years) adults who had brain infarction or hemorrhage, the most common etiologic factors were rheumatic heart disease, migraine and oral contraceptive use among the younger group. In contrast, atherosclerotic, hypertensive and diabetes-associated cerebrovascular were the most common causes in the middle-aged group. Patients who have a stroke before age 45 should have prompt, complete laboratory and radiologic testing to define a possible treatable cause. 相似文献
196.
Neville J. Pinfield Jesus O. Sanchez-Torres Christopher N. McDermott 《Plant Growth Regulation》1984,2(2):99-109
Swelling of the hypocotyl base induced by 2,4-D in seedlings of marrow was much reduced if GA3 was also present in the incubation medium. At appropriate concentrations kinetin also counteracted this 2,4-D effect, although at higher concentrations appeared to be ineffective. GA3 was also able to overcome the inhibitory effects of 2,4-D on extension growth in the hypocotyl but kinetin was much less effective in this case. None of the treatments employed was able to alleviate the inhibition of radicle extension induced by 2,4-D.Ethephon induced similar responses in the seedlings to those resulting from 2,4-D treatment, while treatment with a mixture of 2,4-D and CoCl2 removed many of these growth abnormalities. These observations are interpreted as indicating that 2,4-D operates at least partly by stimulating the production of ethylene in the tissues. 2,4-D strongly inhibited the accumulation of endogenous gibberellin during the period of seedling development examined, but enhanced cytokinin levels during the later stages of the same period. The possibility of interactions at the biosynthetic level between gibberellins, cytokinins and ethylene and their involvement in the regulation of seedling development are discussed. 相似文献
197.
Philip V. Ammirato David A. Evans Christopher E. Flick Robert J. Whitaker William R. Sharp 《Trends in biotechnology》1984,2(3):53-58
A range of emerging technologies are expected to play a significant role in agricultural improvement in the next 20 years. Some are only now being explored, but others have already produced significant results. Recent progress in the tissue culture and genetic engineering of crop plants has opened the door to: (1) large scale and rapid propagation of genetically uniform plants from elite materials; (2) the selection of novel and improved varieties using somaclonal variation technology; (3) the development of new hybrids between different cultivars and species by means of protoplast fusion and (4) the use of recombinant DNA to introduce new genetic material into plant cells. It is expected that, by the year 2000, a wide range of crops will be affected by these advances in biotechnology. 相似文献
198.
Radical-pair decay kinetics and molecular triplet quantum yields at various magnetic fields are reported for quinone-depleted reaction centers from the photosynthetic bacterium Rhodopseudomonas sphaeroides R26. The radical-pair decay is observed by picosecond absorption spectroscopy to be a single exponential to within the experimental uncertainty at all fields. The decay time increases from 13 ns at zero field to 17 ns at 1 kG, and decreases to 9 ns at 50 kG. The orientation averaged quantum yield of formation of the molecular triplet of the primary electron donor, 3P, drops to 47% of its zero-field value at 1 kG and rises to 126% at 50 kG. Combined analysis of these data gives a singlet radical-pair decay rate constant of 5 · 107s?1, a lower limit for the triplet radical-pair decay rate constant of 1 · 108s?1 and a lower limit for the quantum yield of radical-pair decay by the triplet channel of 38% at zero field. The upper limit of the quantum yield of 3P formation at zero field is measured to be 32%. In order to explain this apparent discrepancy, decay of the radical pair by the triplet channel must lead to some rapid ground state formation as well as some 3P formation. It is proposed that the triplet radical pair decays to a triplet charge-transfer state which is strongly coupled to the ground state by spin-orbit interactions. Several possibilities for this charge-transfer state are discussed. 相似文献
199.
Laboratory Calibrations of the [3H]Adenine Technique for Measuring Rates of RNA and DNA Synthesis in Marine Microorganisms 下载免费PDF全文
The nucleic acid synthesis rates of several marine phytoplankton and bacteria grown in chemostat and batch cultures were measured by using [3H]adenine. The [3H]adenine synthesis rates showed excellent agreement with the known rates of synthesis estimated from chemical RNA and DNA data. Under certain conditions, RNA turnover and ATP pool compartmentalization produce inaccuracies in synthesis measurements made with [3H]adenine. However, accurate measurements of the rates of microbial RNA and DNA synthesis can be made in any environmental situation provided a few simple precautions are observed. First, time course experiments are recommended. Second, experiments should be conducted for periods long enough to avoid problems arising from disequilibria of internal ATP pools. Finally, exogenous [3H]adenine should remain in the medium over the length of the time course. 相似文献
200.
Jeff W. Stevens Yasuteru Oike Christopher Handley Vincent C. Hascall Anne Hampton Bruce Caterson 《Journal of cellular biochemistry》1984,26(4):247-259
A ternary complex of hyaluronic acid-binding region and link protein bound to hyaluronic acid was isolated from limit clostripain digests of proteoglycan aggregates isolated from the Swarm rat chondrosarcoma. Under these conditions, the hyaluronic acid-binding region has a molecular weight of ? 65,000 (HA-BR65). N-terminal amino acids in the complex were selectively l4C-carbamylated. The resulting derivatized HA-BR65 was isolated, and tryptic peptide maps were prepared and developed on two-dimensional TLC sheets. A single, labeled peptide was obtained which gave a Mr by ? 8,000 by SDS-PAGE. Chymotrypsin digestion of the ternary complex reduced the molecular weight of HA-BR65 to a polypeptide of ? 55,000 (HA-BR55) which still retains the same N-terminal tryptic peptide. Partial digestion of proteoglycan aggregates with clostripain generated a series of larger intermediates with the hyaluronic acid-binding region. Direct SDS-PAGE analysis revealed one major intermediate with Mr ? 109,000 (HA-BR109) as well as HA-BR65. After chondroitinase digestion, two additional prominent intermediates were observed on a SDS-PAGE gel at Mr ? 120,000 (HA-BR120) and ? 140,000 (HA-BR140). All the intermediates were recognized by a monoclonal antibody specific for the hyaluronic acid-binding region, and all of them contained the same N-terminal tryptic peptide. The results indicate that the N terminus of the core protein is at the hyaluronic acid-binding end of the proteoglycan and that the chondroitin sulfate chains are first present on the core protein in a region between 109,000 and 120,000 molecular weight away from the N terminus. 相似文献