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61.
tefan Sre Frantiek Cisrik Ladislav Psztor Ladislav Harme
ko John M. Opitz 《American journal of medical genetics. Part A》1978,2(2):159-166
For several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Tren?ín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected-family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and jeterozygotes in this portion of the Tren?ín District. Twelve homozygotes were found, but seven originated from a single hamlet in which a founder effect – genetic drift and inbreeding – are thought to account for the high prevalance of AU. 相似文献
62.
Summary Human leukocyte interferon produced in primary cultures of buffy coat cells and human fibroblast interferon from cultures of the FS-4 foreskin cell strain were subjected to isoelectric focusing in polyacrylamide gels. Leukocyte interferon could be resolved into three major components (pI 5.5, 6.2 and 6.6, respectively) and one minor component (pI 7.0). Fibroblast interferon activity focused in a broad pH range of 6.8–7.8.The isoelectrically distinct subspecies of human leukocyte interferon were isolated and compared as to their antigenic nature, heterospecific antiviral activity in cultures of bovine cells, and apparent molecular weights upon electrophoresis in sodium dodecyl sulfate-polyacrylamide gels (SDS-PAGE). The three major subspecies (pI 5.5, 6.2 and 6.6) were similar in their neutralization by antiserum against whole leukocyte interferon and in their relative heterospecific activities on bovine cells. When analyzed on SDS-PAGE, the component focusing at pH 5.5 migrated to a position corresponding to a molecular weight of 17,500 (Le
f), the component with the pI of 6.6 had its major peak corresponding to a molecular weight of 23,000 (Le
s), while the pI 6.2 component contained a mixture of the two molecular weight species. The minor isoelectric component focusing at pI 7.0 contained interferon with the antigenic specificity of fibroblast (F) interferon. It is concluded that the two major antigenic species of human interferon (Le andF) and two known subspecies of human leukocyte interferon (Le
s andLe
f) can be resolved by isoelectric focusing.With 3 Figures 相似文献
63.
Sexual dimorphism (SD) represents all the differences between males and females of the same species. SD of the murine lacrimal gland and the major effect of testosterone on its formation are well documented. Steroidogenic factor-1 (SF-1, NR5a1) is a nuclear receptor essential for the fetal development of steroid hormones producing organs and SF-1 knockout mice (Sf-1 KO) are therefore born without gonads and adrenal glands. The aim of this study was to investigate whether SD in lacrimal glands is present in the absence of exposure to sex hormones during development. Lacrimal glands from adult Sf-1 KO male and female mice without hormonal exposure, and from males that were treated with testosterone propionate (TP) prior to sacrifice, were examined. After sacrifice, glandular tissue was processed using standard histological procedures. Paraffin sections were analysed by stereology and immunostained against the androgen receptor (AR). Our results showed that there were no statistically significant differences in the mean volumes of acini, connective tissue or ductal system between males, females, and males on TP. The same pertains to the mean length of the ducts in all three groups. In the absence of sex hormones, sex chromosomes proved to be insufficient in inducing sexual dimorphism in LG. However, nuclei of the acinar cells in males on TP were positive for AR, whereas in males without TP no expression of AR was detected. Administration of TP induced the expression of AR in the nuclei of acinar cells of males but did not affect the morphology of LG. We conclude that SD in the lacrimal gland is not present in Sf-1 KO mice and this suggests that sex hormones have a major role in the development of SD in the lacrimal gland. 相似文献
64.
L. Kutinová Š. Němečková E. Hamšíková H. Závadová V. Ludvíková J. Brouček D. Kunke J. König L. G. Zakharova G. V. Pashvykina V. Loparev V. Vonka 《Archives of virology》1994,138(1-2):1-15
Summary Translation of poliovirus RNA is initiated by entry of ribosomes into the nucleotide sequence (internal ribosomal entry site; IRES) within the 5-untranslated region (5-UTR). Efficiency of this translation initiation in rabbit reticulocyte lysates (RRL) was very low and was greatly enhanced by addition of the ribosomal salt-wash fraction (RSW) prepared from HeLa cells. This stimulating activity in the RSW was partially purified by gel-filtration column chromatography and its molecular weight was estimated to be higher than 240 000. Several proteins that bind specifically to the poliovirus IRES were detected in the active fraction. Among those, a 57 kDa protein, recognized by antibodies against polypyrimidide tract-binding protein (PTB), was found. In addition, La protein (52 kDa) which is a human antigen recognized by antibodies from patients with autoimmune disorders was also detected. Further purification on a hydroxylapatite column resulted in considerable loss of the stimulatory activity, accompanied by a reduction of the apparent molecular weight of active component(s). These results suggest that fully active HeLa cell stimulatory factors for the translation initiation on poliovirus RNA function in RRL as a large complex consisted of several components including PTB and La protein. 相似文献
65.
Jan Pla
ek Ferenc Szcs Dietrich Braun Thomas Skrzek 《Macromolecular chemistry and physics.》1994,195(2):463-473
Tetraarylsuccinonitriles 2a – e were synthesized via oxidative dimerization of diarylacetonitriles 1a – e in basic media. The thermal decomposition of 2 results in two identical cyanodiarylmethyl radicals 3 . Both 1H and 13C NMR analyses of 1a – e and 2a – e and ESR spectra of 3a – e are presented and discussed. The results of ESR measurements provide a plausible explanation for the different reactivity of cyanodiarylmethyl radicals 3a – e in free radical polymerization. 相似文献
66.
Radosława Nowak Elżbieta Oknińska‐Hoffmann Agata Skórka Dorota Gieruszczak‐Białek Maria Sawadro‐Rochowska 《American journal of medical genetics. Part A》2001,103(2):144-148
Wiedemann‐Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow‐up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson‐Gilford progeria. © 2001 Wiley‐Liss, Inc. 相似文献
67.
Michal M Skálová A Mukensnabl P 《Virchows Archiv : an international journal of pathology》2000,437(4):465-468
We describe a 45-year-old man who had a 2-year history of a slowly enlarging tumor in the left parotid gland. Histologically,
the tumor was a mucinous cystadenoma with focal apocrine differentiation, which revealed a widespread invasive micropapillary
adenocarcinoma component. A rim of lymphoid tissue surrounded the margins of the micropapillary carcinoma. The invasive micropapillary
adenocarcinoma component was morphologically identical with the invasive micropapillary carcinoma of the mammary gland. The
tumor is different from so-far recognized salivary gland tumor entities.
Received: 25 October 1999 / Accepted: 13 June 2000 相似文献
68.
J. Gabrilovac M. Boranić B. Kušić D. Batinić L. Rajić A. Tiefenbach 《Journal of molecular medicine (Berlin, Germany)》1988,66(8):354-360
Summary Natural killer (NK) activity against cells of the K-562 line was significantly depressed in 12 of 18 children (66%) with untreated acute lymphocytic leukemia (ALL). No suppression of allogeneic NK activity was observed with sera of the patients, regardless of the level of NK depression. The ability of peripheral blood lymphocytes (PBLs) to suppress allogeneic NK activity was tested in two ALL patients — one with no detectable NK activity, and one with high NK activity. No NK-suppressive activity was found with PBLs of the areactive patient; PBLs of the reactive patients exhibited some suppressive activity, but only at a particular suppressor-to-effector cell ratio. Leukemic blasts were resistant to killing by autologous NK cells stimulated by IFN, as well as to killing by allogeneic, IFN-stimulated PBLs. Leukemic blasts of an ALL patient inhibited lysis of K-562 cells in an 18-h, but not in a 4-h NK assay. The inhibition could partly be reversed by pretreatment of ALL cells with alpha interferon, suggesting that the blasts might inhibit the lysis of K-562 targets in a competitive manner. Disturbed function and/or regulation of NK cells may influence attempts at NK cell activation by lymphokines.Abbreviations ALL
acute lymphocytic leukemia
- AML
acute myeloid leukemia
- CLL
chronic lymphocytic leukemia
- CML
chronic myeloid leukemia
- IFN
interferon
- IL-2
interleukin-2
- LGL
large granular lymphocyte
- NK cell
natural killer cell
- PBL
peripheral blood lymphocyte
- Poly I:C
polyinosinic-polycytidylic acid 相似文献
69.
Jiří Bártek Vladimir Viklický František Franěk Pavla Angelisová Pavel Dráber Taťána Jarošíková Miloš Němec Hana Verlová 《Immunology letters》1982,4(5):231-235
Five stable hybridoma lines were prepared using the myeloma cell line P3-X63-Ag.653 and spleen cells of mice hyperimmunized by pig transferrin. All hybridomas grew well in mouse peritoneal cavity and produced antibodies of the IgG1 subclass. Antibody preparations obtained from ascitic fluids tested for their capacity of antigen precipitation. No precipitation was obtained with single antibodies and with pairs of antibodies. Three out of 10 possible triads gave clear and sharp precipitation zones and rings in immunodiffusion tests performed in agar gel. All 5 antibodies were shown by quantitative enzyme-immunoassay to be specific for pig transferrin: no cross-reaction was obtained with mouse, human, horse and sheep transferrins. 相似文献
70.
Daniel Hork Franti eksvec Jaroslav Klal Arnold A. Adamyan Yurii D. Volynskii Olga S. Voronkova Leonid S. Kokov Klara Z. Gumargalieva 《Biomaterials》1986,7(6):467-470
In this study we report the results of clinical experiments, obtained with spherical particles made from poly(2-hydroxyethyl methacrylate) used in the embolization of arteriovenous anastomoses, in the suppression of pulmonary haemorrhage and haemoptysis and in the occlusion of some other arteries. So far we have used these particles in the treatment of 187 patients. It must be stressed that the advantage of spherical particles consists in the simplicity of their introduction into the blood vessel through a catheter, while in the blood vessel itself the particle swells in blood still more, when compared with the particle size in saline. This results in an immediate and permanent haemostatic effect. No revascularization occurs. 相似文献