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31.
Baujat G Rio M Rossignol S Sanlaville D Lyonnet S Le Merrer M Munnich A Gicquel C Colleaux L Cormier-Daire V 《American journal of medical genetics. Part C, Seminars in medical genetics》2005,(1):4-11
Here, we report the clinical and molecular analysis of 75 patients with overgrowth and mental retardation, including 45 previously reported cases [Rio et al., 2003; Baujat et al., 2004]. Two groups are distinguished: group I corresponding to patients with recognizable overgrowth syndromes (Sotos syndrome (SS), Weaver syndrome (WS), Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome (SGBS), and del(22)(qter) syndrome) (60 cases) and group II corresponding to unclassified cases (15 patients). We investigated NSD1 and GPC3 deletions or mutations, 11p15 abnormalities, and 22qter deletions. Surprisingly, in Group I, two SS patients had 11p15 abnormalities and two patients with Beckwith-Wiedemann syndrome had NSD1 aberrations. In group II, two cases of del(22)(qter) were identified but neither NSD1, 11p15, nor GPC3 abnormalities were detected. These results emphasize the clinical and molecular overlap in overgrowth conditions. 相似文献
32.
Rescue of a thymotropic, leukemogenic C-type virus from cultured, nonproducer-lymphoma cells of strain C57BL/Ka mice. 总被引:6,自引:0,他引:6
A permanent cell line, BL/RL12-NP, derived from a radiation-induced C57BL/Ka mouse lymphoid tumor, has remained devoid of MuLV expression, except for the rare, sporadic initiation of virus production in some cultures. It can, however, be stably infected by the radiation leukemia virus (RadLV), and the progeny virus population retains the biological and serological properties of the parental RadLV. The cells can also be infected by a B-ecotropic, nonthymotropic, nonleukemogenic C57BL/Ka virus isolate, BL/Ka (B). In the latter situation, the emerging virus particles may exhibit thymotropic and leukemogenic (T+L+) attributes similar to those of RadLV, while retaining at least some of the envelope determinants of BL/Ka (B). These observations suggest that, following productive infection by a nonleukemogenic helper virus, oncogenic sequences endogenous to the non-producer lymphoma cells may be packaged in infectious progeny virions. The data are interpreted as providing strong support for the existence, in radiogenic lymphomas, of defective T+L+ sequences, designated RadLV-O. Possible mechanisms whereby RadLV-O is later expressed as an infectious leukemogenic virus are discussed. 相似文献
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An intact alveolar epithelial barrier is thought to be important for alveolar liquid absorption. However, polycations increase alveolar permeability without affecting alveolar liquid absorption (Saumon et al., Am J Physiol 1995: 269:L185-L194). We have reconsidered this issue using polyamines. The polyamine spermine (10(-3) mol/l) produced a large (up to 20-fold), sustained increase in the permeability of the alveolar barrier to mannitol (PAMan) and in alveolar liquid absorption (Jw, twofold) in isolated rat lungs. These increases were inhibited by 5 x 10(-3) mol/l putrescine and 2 x 10(-3) mol/l spermidine. Because spermine is known to affect the phosphoinositide/Ca2+ signalling pathway, we evaluated the effects of thiol reagents known to interfere with this pathway in different ways. Thimerosal, a thiol reagent which sensitizes the inositol 1,4,5-trisphosphate (IP3) receptor, inhibited the spermine-induced increase in PA(Man) and, to a lesser extent, that of Jw. Mersalyl, a thiol reagent which blocks IP3-gated Ca2+ channels, enhanced spermine's effect, whereas N-ethylmaleimide, a non-specific thiol reagent, had no effect. These observations show that large increases in permeability may coexist with increases in Jw. They also suggest that the phosphoinositide/Ca2+ second messenger pathway is involved in modulating the tightness of the alveolar barrier and alveolar liquid absorption. 相似文献
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A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice
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Heidet L Borza DB Jouin M Sich M Mattei MG Sado Y Hudson BG Hastie N Antignac C Gubler MC 《The American journal of pathology》2003,163(4):1633-1644
Collagen IV is a major structural component of basement membranes. In the glomerular basement membrane (GBM) of the kidney, the alpha3, alpha4, and alpha5(IV) collagen chains form a distinct network that is essential for the long-term stability of the glomerular filtration barrier, and is absent in most patients affected with Alport syndrome, a progressive inherited nephropathy associated with mutation in COL4A3, COL4A4, or COL4A5 genes. To investigate, in vivo, the regulation of the expression, assembly, and function of the alpha3alpha4alpha5(IV) protomer, we have generated a yeast artificial chromosome transgenic line of mice carrying the human COL4A3-COL4A4 locus. Transgenic mice expressed the human alpha3 and alpha4(IV) chains in a tissue-specific manner. In the kidney, when expressed onto a Col4a3(-/-) background, the human alpha3(IV) chain restored the expression of and co-assembled with the mouse alpha4 and alpha5(IV) chains specifically at sites where the human alpha3(IV) was expressed, demonstrating that the expression of all three chains is required for network assembly. The co-assembly of the human and mouse chains into a hybrid network in the GBM restores a functional GBM and rescues the Alport phenotype, providing further evidence that defective assembly of the alpha3-alpha4-alpha5(IV) protomer, caused by mutations in any of the three chains, is the pathogenic mechanism responsible for the disease. This line of mice, humanized for the alpha3(IV) collagen chain, will also provide a valuable model for studying the pathogenesis of Goodpasture syndrome, an autoimmune disease caused by antibodies against this chain. 相似文献
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Hassan Izaabel Henri-Jean Garchon Geneviève Beaurain Mohamed Biga Omar Akhayat Jean-François Bach Sophie Caillat-Zucman 《Human immunology》1996,49(2):137-143
HLA class II polymorphism in Moroccan IDDM patients has not been investigated so far. In this study, HLA-DRB1, -DQA1, and -DQB1 allele and haplotype frequencies were analyzed in 125 unrelated Moroccan IDDM patients and 93 unrelated healthy controls, all originating from the Souss region and mostly of Berber origin. Some common features with other Caucasian groups were observed, in particular, a predisposing effect of the DRB1*03-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 alleles or allelic combinations. The Moroccan IDDM group also presented with more specific characteristics. Among DRB1*04 subtypes, DRB1*0405 was associated with susceptibility to and DRB1*0406 with protection from the disease. The haplotype and the relative predispositional effect (RPE) analyses indicated that the DRB1*08-DQA1*0401DQB1 *0402 haplotype was also associated with susceptibility to IDDM. Interestingly, the DRB1*09DQA1 *0301-DQB1*0201 haplotype, completely absent from the control group and very rare in North African populations, was observed in 7.2% of the Moroccan diabetics. Conversely, the DRB1*07-DQA1*0201DQB1 *0201 and DRB1*15-DQA1*0102-DQB1*0602 haplotypes were associated with protection from IDDM. Finally, we observed an age-dependent genetic heterogeneity of IDDM, the frequencies of predisposing alleles being higher and those of protective alleles lower in childhood- than in adult-onset diabetics. Our data on Moroccan diabetics, together with data on European and Northern Mediterranean patients, suggest a gradient of various HLA class II predisposing and protective markers that link these populations 相似文献
40.
Krajc M De Grève J Goelen G Teugels E 《European journal of human genetics : EJHG》2002,10(12):879-882
Linkage analysis has identified BRCA1 and BRCA2 germline mutations as the major cause for cancer predisposition in breast and/or ovarian cancer families. In previous screening efforts on Belgian families we had a BRCA1/2 gene mutation detection rate of 25%.(1) Here we report the results of a BRCA mutation screening in seven high-risk breast/ovarian cancer families from Slovenia. We found a single but highly recurrent BRCA2 splice site mutation (IVS16-2A>G) in three breast cancer-only families. This cancer-linked mutation could not be identified in three families with ovarian cancer, suggesting that the mutation predisposes at least predominantly to breast cancer. All mutation carriers shared a common disease associated haplotype indicating a founder effect. This mutation most probably occurred in a single ancestor and seems essentially confined to the Slovene population. 相似文献