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341.
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B. Tümmler T. Storrs V. Dziadek T. Dörk B. Tümmler H. von der Hardt T. Meitinger A. Golla R. M. Bertele-Harms H. K. Harms E. Schröder A. Claaß J. Rutjes R. Scheppenheim I. Bauer K. Breuel M. Stuhrmann J. Schmidke M. Linder A. Eigel J. Horst R. Kaiser M. J. Lentze K. Schmidt X. Estivill 《Human genetics》1996,97(6):727-731
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic
fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas.
The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%),
G551D (0.8%) and R347P (0.8%). According to the grandparents’ birthplace, 74% of CF chromosomes had their origin in Germany;
the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more
mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the
Ukraine. This widespread geographic origin of CFTR mutations in today’s Germany reflects the many demographic changes and
migrations in Central Europe during the 20th century.
Received: 10 October 1995 / Revised: 9 January 1995 相似文献
343.
We have studied susceptibility of basement membranes in a variety of tissues to solubility in guanidine hydrochloride and to proteolytic degradation by trypsin and thermolysin. Unfixed sections from embryonic and adult mouse tissues and the EHS tumor were subjected to solvent buffers or digested with enzymes. The retention or disappearance of the basement-membrane components nidogen, laminin, collagen IV, and heparan sulfate proteoglycan was subsequently assayed by immunofluorescence. Our data showed that in all tissues nidogen was the most readily solubilized component and the most susceptible to proteolytic degradation. With few exceptions, nidogen in embryonic tissues was more susceptible to degradation than that in adult tissues, and this correlated well with the susceptibility of the other basement-membrane components to be degraded. We conclude that basement membranes differ quite markedly in their solubility and their susceptibility to proteolytic degradation and that these properties reflect differences in their molecular structure. 相似文献
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346.
Olivia A. Maguire Sarah E. Ackerman Sarah K. Szwed Aarthi V. Maganti François Marchildon Xiaojing Huang Daniel J. Kramer Adriana Rosas-Villegas Rebecca G. Gelfer Lauren E. Turner Victor Ceballos Asal Hejazi Bozena Samborska Janane F. Rahbani Christien B. Dykstra Matthew G. Annis Ji-Dung Luo Thomas S. Carroll Paul Cohen 《Cell metabolism》2021,33(3):499-512.e6
347.
Bozena Mytar Marek Zembala Wojciech Uracz Antoni Czupryna 《Cancer immunology, immunotherapy : CII》1982,13(3):190-193
Summary The ability of monocytes from patients with gastrointestinal cancer to inhibit tumour cell growth and suppress PHA-induced lymphocyte response in vitro was assessed. Isolated monocytes, i.e., adherent Fc+ cells from mononuclear cell suspension, were cytostatic but not cytolytic for both K562 line and L1210 lymphoma cells. Monocytes from the patients showed an increased ability to inhibit the growth of L1210 but not K562 line cells. The increased cytostatic activity of monocytes was associated with their suppressor activity. This suggests that suppressor monocytes are also able to arrest tumour cell growth in vitro. 相似文献
348.
Bozena Kolano Andrzej Plucienniczak Miroslaw Kwasniewski Jolanta Maluszynska 《Journal of applied genetics》2008,49(4):313-320
In this study, a novel repetitive sequence pTaq10 was isolated from theTaq I digest of the genomic DNA of the pseudocerealChenopodium quinoa. Sequence analysis indicated that this 286-bp monomer is not homologous to any known retroelement sequence. FISH and Southern blot analysis showed that this sequence is characterized by an interspersed genomic organization. After FISH, hybridization signals were observed as small dots spread throughout all of the chromosomes. pTaq hybridization signals were excluded from 45S rRNA gene loci, but they partly overlapped with 5S rDNA loci. pTaq10 is not a species-specific sequence, as it was also detected inC. berlandieri. 相似文献
349.