Molecular pathology : MP最新文献

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Epstein-Barr virus encoded latent membrane protein 1 (LMP1) and TNF receptor associated factors (TRAF): colocalisation of LMP1 and TRAF1 in primary EBV infection and in EBV associated Hodgkin lymphoma. eb病毒编码的潜伏膜蛋白1 (LMP1)和TNF受体相关因子(TRAF): LMP1和TRAF1在原发性EBV感染和EBV相关霍奇金淋巴瘤中的共定位
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.156
G Siegler, E Kremmer, R Gonnella, G Niedobitek
{"title":"Epstein-Barr virus encoded latent membrane protein 1 (LMP1) and TNF receptor associated factors (TRAF): colocalisation of LMP1 and TRAF1 in primary EBV infection and in EBV associated Hodgkin lymphoma.","authors":"G Siegler,&nbsp;E Kremmer,&nbsp;R Gonnella,&nbsp;G Niedobitek","doi":"10.1136/mp.56.3.156","DOIUrl":"https://doi.org/10.1136/mp.56.3.156","url":null,"abstract":"<p><strong>Aims: </strong>Epstein-Barr virus (EBV) immortalises B cells in vitro and is associated with several malignancies. Most phenotypic effects of EBV are mediated by latent membrane protein 1 (LMP1), which interacts with tumour necrosis factor receptor associated factors (TRAFs) to activate NF-kappaB. This study examines TRAF1 and LMP1 expression in EBV associated lymphoproliferations.</p><p><strong>Methods: </strong>TRAF1 expression was investigated in 26 Hodgkin lymphomas (HL; 18 EBV+, eight EBV-), seven EBV+ Burkitt lymphomas (BL), two infectious mononucleosis (IM) tonsils, and lymphoreticular tissue from eight chronic virus carriers. Seven anaplastic large cell lymphomas and 10 follicular B cell lymphomas were also studied. Colocalisation of TRAF1 and LMP1 was studied by immunofluorescent double labelling and confocal laser microscopy.</p><p><strong>Results: </strong>TRAF1 colocalises with LMP1 in EBV infected cells in IM. EBV positive lymphocytes from chronic virus carriers were negative for TRAF1 and LMP1. In HL biopsies, TRAF1 was strongly expressed independently of EBV status, whereas all BL cases were TRAF1-. In EBV+ HL cases, TRAF1 colocalised with LMP1. Eight of 10 follicular lymphomas expressed TRAF1 in centroblast-like cells. Four of seven anaplastic large cell lymphomas weakly expressed TRAF1.</p><p><strong>Conclusions: </strong>These results suggest that in non-neoplastic lymphocytes, TRAF1 expression is dependent on the presence of LMP1, and that in IM B cells in vivo, LMP1 associated signalling pathways are active. In HL, TRAF1 is expressed independently of EBV status, probably because of constitutive NF-kappaB activation. The function of TRAF1 in HL remains to be determined.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"156-61"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187311/pdf/mp56000156.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 21
Three novel PAX6 mutations in patients with aniridia. 无虹膜患者的三个新的PAX6突变。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.180
W Zumkeller, U Orth, A Gal
{"title":"Three novel PAX6 mutations in patients with aniridia.","authors":"W Zumkeller,&nbsp;U Orth,&nbsp;A Gal","doi":"10.1136/mp.56.3.180","DOIUrl":"https://doi.org/10.1136/mp.56.3.180","url":null,"abstract":"<p><strong>Aims: </strong>To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.</p><p><strong>Methods: </strong>The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing.</p><p><strong>Results: </strong>In one family, three individuals from two generations had aniridia, whereas in each of the other families only one member was affected. The first patient had the heterozygous Q221X (1023C --> T) nonsense mutation in exon 8. The same mutation was found in his mother and sister. Another patient had a heterozygous Q297X (1252C --> T) mutation in exon 10. The third patient carried a heterozygous IVS5+2T --> C mutation leading to aberrant splicing of mRNA.</p><p><strong>Conclusions: </strong>These findings provide further examples of haploinsufficiency of PAX6 in aniridia.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"180-3"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187315/pdf/mp56000180.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 16
Molecular Cytogenetics. Protocols and Applications 分子细胞遗传学。协议和应用
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.190
J. Crocker
{"title":"Molecular Cytogenetics. Protocols and Applications","authors":"J. Crocker","doi":"10.1136/mp.56.3.190","DOIUrl":"https://doi.org/10.1136/mp.56.3.190","url":null,"abstract":"This is a tour de force of a book, with 18 contributors. I know from experience that it is difficult for an editor to maintain uniformity under these circumstances, but Professor O’Leary has done very well here. This is an all Northern American publication, so some of the contributors’ names may not be known to us all. Nonetheless, this should not detract from a well assembled and …","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 1","pages":"190 - 190"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64433643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Genetic vulnerability following traumatic brain injury: the role of apolipoprotein E. 外伤性脑损伤后的遗传易感性:载脂蛋白E的作用。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.132
N Nathoo, R Chetty, J R van Dellen, G H Barnett
{"title":"Genetic vulnerability following traumatic brain injury: the role of apolipoprotein E.","authors":"N Nathoo,&nbsp;R Chetty,&nbsp;J R van Dellen,&nbsp;G H Barnett","doi":"10.1136/mp.56.3.132","DOIUrl":"https://doi.org/10.1136/mp.56.3.132","url":null,"abstract":"<p><p>Apolipoprotein E (APOE) is thought to be responsible for the transportation of lipids within the brain, maintaining structural integrity of the microtubule within the neurone, and assisting with neural transmission. Possession of the APOE epsilon4 allele has also been shown to influence neuropathological findings in patients who die from traumatic brain injury, including the accumulation of amyloid beta protein. Previous clinical studies reporting varying outcome severities of traumatic brain injury, including cognitive and functional recovery, all support the notion that APOE epsilon4 allele possession is associated with an unfavourable outcome. Evidence from experimental and clinical brain injury studies confirms that APOE plays an important role in the response of the brain to injury.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"132-6"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187307/pdf/mp56000132.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22415157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 93
Molecular changes in the Ki-ras and APC genes in primary colorectal carcinoma and synchronous metastases compared with the findings in accompanying adenomas. Ki-ras和APC基因在原发性结直肠癌和同步转移中的分子变化与伴发腺瘤的比较
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.137
P Zauber, M Sabbath-Solitare, S P Marotta, D T Bishop
{"title":"Molecular changes in the Ki-ras and APC genes in primary colorectal carcinoma and synchronous metastases compared with the findings in accompanying adenomas.","authors":"P Zauber,&nbsp;M Sabbath-Solitare,&nbsp;S P Marotta,&nbsp;D T Bishop","doi":"10.1136/mp.56.3.137","DOIUrl":"https://doi.org/10.1136/mp.56.3.137","url":null,"abstract":"<p><strong>Aims: </strong>To compare the molecular genetic changes in the Ki-ras and adenomatous polyposis coli (APC) genes between colorectal carcinomas and synchronous metastases, and then to compare and contrast those changes with previously reported changes in the two genes between these carcinomas and accompanying adenomas. This expanded comparison would provide greater understanding of the progression of molecular changes in neoplastic tissue during the development of malignancy from a benign adenoma to carcinoma and then to metastatic spread of the malignancy.</p><p><strong>Methods: </strong>DNA was extracted from paraffin wax embedded tissue. This was followed by polymerase chain reaction and gel electrophoresis for mutations in the Ki-ras gene using single stranded conformational polymorphism analysis. Amplification of a CA repeat marker was used to assess loss of heterozygosity (LOH) at the APC gene.</p><p><strong>Results: </strong>The findings for the Ki-ras gene in 42 paired carcinomas and synchronous metastases were identical, regardless of whether or not the carcinoma and its companion adenoma had identical Ki-ras findings. The results of APC LOH for 39 paired carcinomas and synchronous metastases were also identical, whether or not the carcinoma and its companion adenoma had identical APC LOH findings. Results were uninformative for three pairs.</p><p><strong>Conclusions: </strong>With respect to these two genes, a carcinoma may be discordant from its companion adenoma, but the metastasis remains consistent with the colonic carcinoma.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"137-40"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187308/pdf/mp56000137.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22415158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 59
Increased zinc finger protein zFOC1 transcripts in gastric cancer compared with normal gastric tissue. 与正常胃组织相比,胃癌中锌指蛋白zFOC1转录本增加。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.167
R L Stephen, J E Crabtree, T Yoshimura, C L Clayton, M F Dixon, P A Robinson
{"title":"Increased zinc finger protein zFOC1 transcripts in gastric cancer compared with normal gastric tissue.","authors":"R L Stephen,&nbsp;J E Crabtree,&nbsp;T Yoshimura,&nbsp;C L Clayton,&nbsp;M F Dixon,&nbsp;P A Robinson","doi":"10.1136/mp.56.3.167","DOIUrl":"https://doi.org/10.1136/mp.56.3.167","url":null,"abstract":"<p><strong>Background: </strong>Screening of cDNA arrays of the IMAGE library identified human zFOC1 as a differentially expressed cDNA that was upregulated in KATO III gastric cancer cells following stimulation with the gastric pathogen Helicobacter pylori.</p><p><strong>Aims: </strong>To determine the expression of zFOC1 in gastric mucosa with and without H pylori infection and in patients with gastric cancer.</p><p><strong>Results: </strong>zFOC1 is localised on chromosome 12q24.3 and encodes a zinc finger protein. Expression studies in human H pylori infected and uninfected gastric biopsies, gastric tumours, and gastric cancer cell lines revealed that zFOCI gene transcripts are significantly higher in gastric cancer than in non-cancerous gastric tissues.</p><p><strong>Conclusions: </strong>The zFOC1 gene appears to be a tumour marker associated with gastric cancer.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"167-71"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187313/pdf/mp56000167.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Measurement of thyroglobulin mRNA in peripheral blood as an adjunctive test for monitoring thyroid cancer. 外周血甲状腺球蛋白mRNA检测作为监测甲状腺癌的辅助检测。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.162
D Grammatopoulos, Y Elliott, S C Smith, I Brown, R J Grieve, E W Hillhouse, M A Levine, M D Ringel
{"title":"Measurement of thyroglobulin mRNA in peripheral blood as an adjunctive test for monitoring thyroid cancer.","authors":"D Grammatopoulos,&nbsp;Y Elliott,&nbsp;S C Smith,&nbsp;I Brown,&nbsp;R J Grieve,&nbsp;E W Hillhouse,&nbsp;M A Levine,&nbsp;M D Ringel","doi":"10.1136/mp.56.3.162","DOIUrl":"https://doi.org/10.1136/mp.56.3.162","url":null,"abstract":"<p><strong>Aims: </strong>Monitoring treated patients with thyroid cancer for recurrent or metastatic disease is currently based upon the serial measurement of circulating plasma thyroglobulin (Tg) concentrations. However, the clinical usefulness of Tg immunoassays is limited by poor sensitivity and interference from anti-Tg antibodies. This study investigated whether the detection of Tg mRNA in peripheral blood, using reverse transcriptase polymerase chain reaction (RT-PCR), is of value in the biochemical surveillance of patients with thyroid cancer.</p><p><strong>Methods: </strong>RNA was extracted from peripheral blood of five normal controls, six patients with abnormal thyroid function tests, and 28 patients who had undergone thyroidectomy for well differentiated thyroid cancer. From each, an 87 bp product from base pair 262 to 348 in the cDNA sequence of the thyroglobulin gene was amplified by RT-PCR.</p><p><strong>Results: </strong>Tg mRNA was detected in normal individuals and patients with thyroid cancer. In the group of patients studied, identification of metastatic thyroid tissue by radioiodine scanning correlated better with Tg mRNA assay results than with serum Tg concentrations (accuracy 84% v 75%). No interference from circulating Tg antibodies was apparent. In patients studied prospectively over a 12 month period, there was a significant correlation between detectable Tg mRNA in peripheral blood and the presence or absence of metastatic disease, as demonstrated by radioiodine scanning.</p><p><strong>Conclusions: </strong>These results suggest that detection of Tg mRNA in blood is a more sensitive marker for metastatic thyroid disease than Tg immunoassay, and appears to be unaffected by the presence of circulating anti-Tg antibodies.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"162-6"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187312/pdf/mp56000162.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 43
PCR analysis in archival postmortem tissues. 档案尸体组织PCR分析。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.184
S Bonin, F Petrera, B Niccolini, G Stanta
{"title":"PCR analysis in archival postmortem tissues.","authors":"S Bonin,&nbsp;F Petrera,&nbsp;B Niccolini,&nbsp;G Stanta","doi":"10.1136/mp.56.3.184","DOIUrl":"https://doi.org/10.1136/mp.56.3.184","url":null,"abstract":"<p><strong>Background: </strong>Formalin fixed and paraffin wax embedded tissues of necropsy origin are an important source for molecular analysis especially in rare diseases, neuropathology, or molecular epidemiology studies. Because of DNA degradation, only short sequences can be amplified from this type of tissue, very often less than 100 bases. This poses problems because studies on polymorphism and mutations occurring in large genes often require the analysis of long sequences.</p><p><strong>Methods: </strong>The development of a simple treatment to obtain longer fragments of DNA for the analysis of archival postmortem paraffin wax embedded tissues.</p><p><strong>Results: </strong>It was possible to amplify longer sequences ranging up to 300 bases from postmortem tissues, with no modification to the usual DNA extraction procedures. To obtain longer stretches of DNA, a pre-PCR restoration treatment was required, by filling single strand breaks, followed by a vigorous denaturation step.</p><p><strong>Conclusions: </strong>The development of this simple treatment allowed the analysis of longer fragments of DNA obtained from archival postmortem paraffin wax embedded tissues.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"184-6"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187316/pdf/mp56000184.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 133
No evidence of tumour cells in blood of patients with glioma. 神经胶质瘤患者血液中没有肿瘤细胞的证据。
Molecular pathology : MP Pub Date : 2003-06-01 DOI: 10.1136/mp.56.3.187
C Böhm, H Wassmann, W Paulus
{"title":"No evidence of tumour cells in blood of patients with glioma.","authors":"C Böhm,&nbsp;H Wassmann,&nbsp;W Paulus","doi":"10.1136/mp.56.3.187","DOIUrl":"https://doi.org/10.1136/mp.56.3.187","url":null,"abstract":"<p><strong>Background: </strong>Although clinically apparent systemic metastases of gliomas are very rare, reports of gliomas developing in recipient's transplanted organs have suggested that haematogenous spread might be more common.</p><p><strong>Methods: </strong>This report describes a newly developed, sensitive real time quantitative reverse transcription polymerase chain reaction assay for the detection of mRNA encoding glial fibrillary acidic protein (GFAP). Blood from 10 patients with astrocytoma and 10 patients with glioblastoma was analysed.</p><p><strong>Results: </strong>No GFAP mRNA was detected.</p><p><strong>Conclusions: </strong>These results suggest that even subclinical metastases are very rare and are probably restricted to distinct subsets of glioma.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 3","pages":"187-9"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187317/pdf/mp56000187.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22416179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Abstracts from the Second International Workshop on the CCN Family of Genes 第二届CCN基因家族国际研讨会摘要
Molecular pathology : MP Pub Date : 2003-04-01 DOI: 10.1136/mp.56.2.65
{"title":"Abstracts from the Second International Workshop on the CCN Family of Genes","authors":"","doi":"10.1136/mp.56.2.65","DOIUrl":"https://doi.org/10.1136/mp.56.2.65","url":null,"abstract":"s................................................................................................ Abstracts from the Seconds from the Second International Workshop on the","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 1","pages":"65 - 75"},"PeriodicalIF":0.0,"publicationDate":"2003-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1136/mp.56.2.65","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64433559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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