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81.
82.
Translocation 2;11 in a fibroma of tendon sheath 总被引:2,自引:0,他引:2
83.
Dal Zotto L; Quaderi NA; Elliott R; Lingerfelter PA; Carrel L; Valsecchi V; Montini E; Yen CH; Chapman V; Kalcheva I; Arrigo G; Zuffardi O; Thomas S; Willard HF; Ballabio A; Disteche CM; Rugarli EI 《Human molecular genetics》1998,7(3):489-499
We have recently reported isolation of the gene responsible for X- linked
Opitz G/BBB syndrome, a defect of midline development. MID1 is located on
the distal short arm of the human X chromosome (Xp22. 3) and encodes a
novel member of the B box family of zinc finger proteins. We have now
cloned the murine homolog of MID1 and performed preliminary expression
studies during development. Mid1 expression in undifferentiated cells in
the central nervous, gastrointestinal and urogenital systems suggests that
abnormal cell proliferation may underlie the defect in midline development
characteristic of Opitz syndrome. We have also found that Mid1 is located
within the mouse pseudoautosomal region (PAR) in Mus musculus , while it
seems to be X- specific in Mus spretus. Therefore, Mid1 is likely to be a
recent acquisition of the M. musculus PAR. Genetic and FISH analyses also
demonstrated a high frequency of unequal crossovers in the murine PAR,
creating spontaneous deletion/duplication events involving Mid1. These data
provide evidence for the first time that genetic instability of the PAR may
affect functionally important genes. In addition, we show that MID1 is the
first example of a gene subject to X-inactivation in man while escaping it
in mouse. These data contribute to a better understanding of the molecular
content and evolution of the rodent PAR.
相似文献
84.
Dal Cin P Sciot R Brys P De Wever I Dorfman H Fletcher CD Jonsson K Mandahl N Mertens F Mitelman F Rosai J Rydholm A Samson I Tallini G Van den Berghe H Vanni R Willen H 《Cancer Genetics and Cytogenetics》2000,122(1):30-32
The nosologic status of fibrous dysplasia (FD), a well-known and relatively common bone lesion, is controversial. Information collected by the CHromosomes And MorPhology (CHAMP) study group on published and unpublished cases of fibrous dysplasia shows the presence of clonal chromosome changes in at least a proportion of these lesions. The chromosome aberrations found in FD lesions have been quite variable and have included both structural and numerical changes. Two of the three cases investigated at the study group had trisomy 2 as the sole acquired anomaly. Combined with previously published data, +2 and rearrangements involving chromosome band 12p13 have each been detected in 3 of 8 cases with abnormal karyotype of 11 in which chromosomal analysis has been performed, suggesting that FD is a neoplastic lesion rather than a "dysplastic" process, as has been generally believed and as implied by its very name. 相似文献
85.
Mattick C Dewin D Polley S Sevilla-Reyes E Pignatelli S Rawlinson W Wilkinson G Dal Monte P Gompels UA 《Virology》2004,318(2):582-597
Previously, we identified the glycoprotein gO gene, UL74, as a hypervariable locus in the human cytomegalovirus (HCMV) genome [Virology 293 (2002) 281]. Here, we analyze gO from 50 isolates from congenitally infected newborns, transplant recipients, and HIV/AIDS patients from Italy, Australia, and UK. These are compared to four gO groups described from USA transplantation patients [J. Virol. 76 (2002) 10841]. Phylogenetic analyses identified seven genotypes. Divergence between genotypes was up to 55% and within 3%. Discrete linkage was shown between seven hypervariable gO and gN genotypes, but not with gB. This suggests interactions, while gN and gO are known to form complexes with distinct conserved glycoproteins gM, gH/gL, respectively, both are involved in fusogenic entry and exit. Codon-based maximum likelihood models showed evidence for sites of positive selection. Further analyses of disease relationships should take into account these newly defined gO/gN groups. 相似文献
86.
HIV-1 and its causal relationship to immunosuppression and nervous system disease in AIDS: a review 总被引:2,自引:0,他引:2
Acquired immune deficiency syndrome (AIDS), caused by human immunodeficiency virus type 1 (HIV-1), has claimed more than 10 million lives over the past 15 years. There are approximately 30 million HIV-positive people worldwide, 89% of whom reside in sub-Saharan Africa and Asia. The intricate relationship between the virus and HIV-related human multisystem pathology prompted scientists to modify many previously established concepts about infectious diseases and immunology, and to test new ones. The results of this work helped resolve many, albeit not all, long-standing problems concerning HIV-1 immune escape, its cellular tropism, and pathogenesis of HIV-related immunosuppression and nervous system disease. The most impressive advances have been made in antiretroviral drug treatment of HIV infection, which has resulted in dramatically reducing AIDS-related mortality, morbidity, and perinatal transmission. However, considering the magnitude of the worldwide HIV-AIDS pandemic, prohibitive cost and unusually exacting nature of combination drug treatment, as well as the emergence of drug-resistant HIV mutants, the disease and virus remain formidable and unpredictable, particularly in the area of prevention and vaccine development. Here, we have reviewed the most pertinent recently published studies of various aspects of HIV/AIDS intended to answer the following questions: what have we learned and what remains to be determined regarding this unorthodox viral disorder? 相似文献
87.
Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma 总被引:2,自引:0,他引:2
Castiglia D Pagani E Alvino E Vernole P Marra G Cannavò E Jiricny J Zambruno G D'Atri S 《Genes, chromosomes & cancer》2003,37(2):165-175
Inactivation of mismatch repair (MMR) genes has been linked to the hereditary nonpolyposis colon cancer syndrome and to a subset of sporadic cancers. A phenotypic characteristic of tumors with defective MMR is microsatellite instability (MSI). Although MSI has been reported in a proportion of cutaneous melanomas, inactivation of MMR genes in this tumor type has not been detected thus far. We recently described a human melanoma cell line, PR-Mel, and a cutaneous metastasis from the same patient, which displayed a MMR defect, and showed high MSI. Here we report that in the PR-Mel cell line both MLH1 alleles are somatically inactivated. One allele is lost through a chromosomal deletion of the region 3p21-24, whereas the remaining allele harbors a G --> A transition at position -1 of the acceptor splice site of intron 15, leading to the in-frame skipping of exon 16. The primary melanoma of the PR patient shows loss of heterozygosity at the BAT21 microsatellite marker, located in the MLH1 gene, and does not express the MLH1 and PMS2 proteins. Moreover, it harbors the same mutation detected in the PR-Mel cells. These results demonstrate that biallelic inactivation of MLH1 had occurred in the primary melanoma of the PR patient and suggest that disruption of MMR might have had a role in the development of the melanoma. This is the first report in which genetic defects leading to disruption of MMR function in a human melanoma have been identified. 相似文献
88.
De novo engineering of reticular connective tissue in vivo by silk fibroin nonwoven materials 总被引:13,自引:0,他引:13
Biologically tolerated biomaterials are the focus of intense research. In this work, we examined the biocompatibility of three-dimensional (3D) nonwovens of sericin-deprived, Bombyx mori silk fibroin (SF) in beta-sheet form implanted into the subcutaneous tissue of C57BL6 mice, using sham-operated mice as controls. Both groups of mice similarly healed with no residual problem. Macroarray analysis showed that an early (day 3) transient expression of macrophage migration inhibitory factor (MIF) mRNA, but not of the mRNAs encoding for 22 additional proinflammatory cytokines, occurred solely at SF-grafted places, where no remarkable infiltration of macrophages or lymphocytes subsequently happened. Even an enduring moderate increase in total cytokeratins without epidermal hyperkeratosis and a transient (days 10-15) upsurge of vimentin occurred exclusively at SF-grafted sites, whose content of collagen type-I, after a delayed (day 15) rise, ultimately fell considerably under that proper of sham-operated places. By day 180, the interstices amid and surfaces of the SF chords, which had not been appreciably biodegraded, were crammed with a newly produced tissue histologically akin to a vascularized reticular connective tissue, while some macrophages but no lymphocytic infiltrates or fibrous capsules occurred in the adjoining tissues. Therefore, SF nonwovens may be excellent candidates for clinical applications since they both enjoy a long-lasting biocompatibility, inducing a quite mild foreign body response, but no fibrosis, and efficiently guide reticular connective tissue engineering. 相似文献
89.
Transcription from the gene encoding the herpesvirus entry receptor nectin-1 (HveC) in nervous tissue of adult mouse 总被引:13,自引:0,他引:13
Hepatitis C virus core protein, in addition to being a component of the viral capsid, has a number of regulatory functions. Here we showed two bodies of evidence indicating that a fraction of the core protein species is a substrate of the ubiquitin (Ub)-proteasome pathway of targeted proteolysis. First, the core protein processing the C-terminal hydrophobic region is metabolically unstable, and incubation with a proteasome inhibitor led to a significant accumulation of the protein. Second, an in vivo ubiquitylation assay indicates conjugation of multi-Ub chain to the unstable core protein. In contrast, a stable form of core protein, p21, is also able to be ubiquitylated, but it links to a single or only a few Ub moiety. Therefore, processing event(s) at the C-terminal hydrophobic domain of HCV core protein may affect the ubiquitylation pathway, particularly the efficiency of the multi-Ub chain assembly, resulting in stable, matured core proteins. 相似文献
90.
Linkage of epidemiological registries can provide cost-effective information on the associations between different diseases or exposures in the population under study and on completeness of surveillance system databases. We describe the program SALI (software for automated linkage in Italy) aimed at matching individual records from medium-sized registries (in the order of 100,000 records), where the desired outcome is to miss as few links as possible and, because of low link-likelihood (< 1%), a manual revision of matched pairs is feasible. SALI, developed in CA-Clipper language, uses registry files in dBase format. It requires only name, surname, and date of birth as key fields, and it allows for spelling errors in Italian or other Latin languages through a specific algorithm. Furthermore, a double-blind procedure ensures data confidentiality. The main linkage procedure is based on four stages, two automatic ones, and two where the operator can decide through specific windows whether to accept stage-selected matches. SALI takes into account possible errors in key fields thus reducing false negatives. It was used to solve the problem of linkage between AIDS and cancer registries in Italy. It can be used with every IBM-compatible computer system, assuring uniquely high portability. 相似文献