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51.
Jonas Weidenhausen Jürgen Kopp Laura Armbruster Markus Wirtz Karine Lapouge Irmgard Sinning 《Structure (London, England : 1993)》2021,29(5):413-425.e5
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Juan Dong Jenny Chang-Claude Yixin Wu Valérie Schumacher Irmgard Debatin Patricia Tonin Brigitte Royer-Pokora 《Human genetics》1998,103(2):154-161
We have analyzed 61 German breast and breast/ovarian cancer families for BRCA1 mutations using single-strand conformation
polymorphism analysis (SSCP) followed by sequencing. Forty-seven of the families had at least three cases (at least two under
60 years) and 14 families had only two cases of breast/ovarian cancer (at least one under 50 years). Twenty-eight families
were breast/ovarian and 33 were breast cancer-only families. Eighteen mutations in BRCA1 were detected in 11/28 breast/ovarian
cancer families and 7/33 breast cancer families and none in the families with only two cases. We identified 17 truncation
mutations (8 frameshift, 7 nonsense and 2 splice variants) and one missense mutation. Seven of these are novel and two, the
5382insC and 5622C→T mutations, occurred in two apparently unrelated families. The genotype of the two families with the 5382insC
mutation is compatible with the rare haplotype segregating with the 5382insC mutation in different populations, further supporting
its European origin. One unclassified missense alteration, R841W, was found in one family but did not segregate with the disease,
suggesting that it is more likely a polymorphism. We also report and discuss the sequence of several new unclassified single-nucleotide
changes first identified by SSCP. Of the 18 mutations, 13 occurred in the 3′ third of the gene (end of exon 11–24) and ovarian
cancers were found in eight of these families.
Received: 5 February 1998 / Accepted: 7 April 1998 相似文献
55.
Irmgard Ziegler 《Phytochemistry》1974,13(11):2403-2410
Sephadex G-200 gel filtration of an ammonium sulfate fraction, containing the bulk of NAD-dependent malate dehydrogenase, yields forms of differing MW. Both Mg2+ and NADH stabilize the 127000 daltons MW form. K+, or incubation with dithioerythritol, cause splitting and partial reaggregation, resulting in MWs ranging between 35000 and 180000 daltons. Chromatography in the presence of dithioerythritol and NADH results in an enzyme with a non-linear reaction rate at low substrate concentrations. Plots of initial velocity vs substrate and cofactor concentration respectively are characterized by two slopes of positive cooperativity separated by an intermediary plateau of negative cooperativity. Gel chromatography in the presence of Mg2+ or K+ or drastic dilution of the enzyme results in an enzyme with linear reaction rates also at low substrate concentration. Its kinetics are consistent with the view that the enzyme undergoes conformational changes when the substrate concentration is varied. 相似文献
56.
Ziegler Hubert Ziegler Irmgard 《Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology》1957,40(6):549-555
Ohne ZusammenfassungDer Deutschen Forschungsgemeinschaft sind wir für ihre Unterstützung, Herrn Prof. Dr. A. Koch für Literaturhinweise zu Dank verpflichtet. 相似文献
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Potato Shoot and Tuber Cultures In Vitro 总被引:2,自引:0,他引:2
59.
Mire Convery Caitríona Dennis Sin Rowsell Andreas Engel J Bernard Heymann Gary Parkinson Rob Russell Gianfranco Gilardi Richard Newman Irmgard Sinning Sabine Flitsch Philip AS Lowden Steve Matthews Gerard J Kleywegt Jon D Stewart 《Current opinion in structural biology》1999,9(6):653
A selection of interesting papers that were published in the two months before our press date in major journals most likely to report significant results in structural biology. 相似文献
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