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A preliminary compilation of cytogenetic studies and of cultured cells derived from individuals homozygous or heterozygous for ataxia-telangiectasia. 细胞遗传学研究的初步汇编，以及来自纯合或杂合个体的培养细胞对共济失调毛细血管扩张的影响。
Kroc Foundation series Pub Date : 1985-01-01
M J Vekemans, T Trasler
{"title":"A preliminary compilation of cytogenetic studies and of cultured cells derived from individuals homozygous or heterozygous for ataxia-telangiectasia.","authors":"M J Vekemans, T Trasler","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"205-14"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"15022171","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
In vitro phenotype of ataxia-telangiectasia (AT) fibroblast strains: clues to the nature of the "AT DNA lesion" and the molecular defect in AT. 共济失调-毛细血管扩张(AT)成纤维细胞株的体外表型:“AT DNA损伤”性质和AT分子缺陷的线索。
Kroc Foundation series Pub Date : 1985-01-01
Y Shiloh, E Tabor, Y Becker
{"title":"In vitro phenotype of ataxia-telangiectasia (AT) fibroblast strains: clues to the nature of the \"AT DNA lesion\" and the molecular defect in AT.","authors":"Y Shiloh,&nbsp;E Tabor,&nbsp;Y Becker","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Studies of the in vitro phenotype of a series of AT strains established in Israel revealed the following features: premature senescence and increased demands for growth factors, normal sensitivity to the cytotoxic effect of alkylating agents, hypersensitivity to agents that damage the deoxyribose moiety of DNA via a \"targeted\" free radical attack (this hypersensitivity is coupled with reduced inhibition of DNA synthesis compared to normal cells), varying degrees of intermediate hypersensitivity to the same agents in AT heterozygous cells, lack of potentially lethal damage repair and sublethal damage repair in AT homozygous cells following treatment with free radical-producing agents. We conclude that AT involves a DNA repair defect and that the AT DNA lesion is probably a gap with the 3'-phosphate or 3'-phosphoglycolate end left in the DNA following sugar destruction.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"111-21"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14979746","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
Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation. 免疫缺陷在共济失调毛细血管扩张中的异质性:缺乏临床病理相关性。
Kroc Foundation series Pub Date : 1985-01-01
C M Roifman, E W Gelfand
{"title":"Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation.","authors":"C M Roifman,&nbsp;E W Gelfand","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have been impressed by the absence of severe and recurring infections in most of our patients with ataxia-telangiectasia. In this report, our clinical and laboratory data on 25 patients are reviewed. We found a heterogeneity of immunological results and a lack of correlation between these results and clinical well-being.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"273-85"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14992985","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
Ataxia-telangiectasia: an overview. 共济失调-毛细血管扩张:综述。
Kroc Foundation series Pub Date : 1985-01-01
E Boder
{"title":"Ataxia-telangiectasia: an overview.","authors":"E Boder","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The more subtle clinical findings that facilitate early diagnosis and the most provocative long-term clinical observations in our series of patients are emphasized. The most striking pathological findings in our own series of 11 complete autopsies are reviewed in relation to new findings from 57 autopsy reports in the recent literature. Clinical and pathological findings in our oldest patient, who died at age 32, are systematically compared with those of her sister, who died 20 years earlier at age 10 1/2 and who was the subject of the first autopsy in AT, thus providing a rare comparison of the early and late stages of the disease. The clinical and pathological findings, including the gliovascular malformations in the CNS described recently in autopsies on older patients, reveal that AT is characterized throughout its course by multisystemic progeric changes. It is proposed, therefore, that AT can serve as a model for the study of premature aging. Clinical diagnosis, laboratory markers, and special diagnostic procedures, along with general management, immunotherapy, and rehabilitative measures, are reviewed in Part II.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"1-63"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13563102","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
Cellular hypersensitivity to chronic gamma-radiation in cultured fibroblasts from ataxia-telangiectasia heterozygotes. 共济失调-毛细血管扩张异型合子培养成纤维细胞对慢性γ辐射的超敏反应。
Kroc Foundation series Pub Date : 1985-01-01
M C Paterson, S J MacFarlane, N E Gentner, B P Smith
{"title":"Cellular hypersensitivity to chronic gamma-radiation in cultured fibroblasts from ataxia-telangiectasia heterozygotes.","authors":"M C Paterson,&nbsp;S J MacFarlane,&nbsp;N E Gentner,&nbsp;B P Smith","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Retrospective studies of cancer incidence in AT families suggest that the major detrimental impact of the AT gene on the health of the general population stems from its disease-predisposing potential in heterozygotes. The absence of a definitive marker for routine identification of such carriers, however, has previously precluded direct validation of this predicted effect of AT heterozygosity. We demonstrate that chronic gamma-ray exposure, because it expands the difference in radiation cytotoxicity between normal and heterozygotic strains compared to acute dose delivery, may point the way to development of a reliable laboratory diagnostic procedure for identification of carriers of a defective AT gene.</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"73-87"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14980663","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
Immune response to Epstein-Barr virus (EBV) in ataxia-telangiectasia: EBV-specific antibody patterns and their relation to cell-mediated immunity. 共济失调毛细血管扩张患者对eb病毒(EBV)的免疫反应:EBV特异性抗体模式及其与细胞介导免疫的关系
Kroc Foundation series Pub Date : 1985-01-01
A I Berkel, W Henle, G Henle, F Ersoy, O Sanal, G Klein, O Yeğin
{"title":"Immune response to Epstein-Barr virus (EBV) in ataxia-telangiectasia: EBV-specific antibody patterns and their relation to cell-mediated immunity.","authors":"A I Berkel,&nbsp;W Henle,&nbsp;G Henle,&nbsp;F Ersoy,&nbsp;O Sanal,&nbsp;G Klein,&nbsp;O Yeğin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Epstein-Barr virus (EBV)-specific antibody titers were investigated in 60 patients with ataxia-telangiectasia (AT) and 22 healthy members of their families. In addition, we studied 36 patients with primary immunodeficiencies, Behçet disease, and other conditions and 61 unrelated healthy controls. Twenty-seven AT patients were examined sequentially at intervals varying from 2 months to 8 years. The AT patients showed an increased incidence (66.6%) of high antibody titers (greater than or equal to 1:320) to viral capsid antigen (VCA) and also a high incidence (35%) of antibody titers to early antigens (EA), but low titers (less than 1:10) of antibodies to the EBV-associated nuclear antigen (EBNA) in 35% of the patients. The geometric mean titers (GMT) of antibodies to VCA were five to six times higher; those of anti-EBNA were five times lower in AT patients as compared with control groups. In serial determinations, anti-VCA and anti-EBNA titers remained constant with the exceptions of two patients who developed ALL and Hodgkin lymphoma. The patients with other diseases did not differ significantly from the controls, with the exception of lower titers (less than 1:10) of anti-EBNA (52.8%). AT patients with low anti-EBNA titers tended to have more advanced T-cell deficiencies than those with moderate anti-EBNA titers, as detected by total lymphocyte and E-rosetting cell counts and skin test responses. The percentage of patients with low serum IgA levels was found to be higher in the low anti-EBNA group than in the moderate anti-EBNA group (44.5 vs 20%).</p>","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"19 ","pages":"287-300"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14132591","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
Studies of the control of hemopoiesis in Dexter cultures. 嗜血杆菌培养控制造血功能的研究。
Kroc Foundation series Pub Date : 1984-01-01
P J Quesenberry, Z X Song, R J Gualtieri, P M Wade, T A Alberico, F M Stewart, M A Doukas, L Levitt, H E McGrath, L A Rexrode
{"title":"Studies of the control of hemopoiesis in Dexter cultures.","authors":"P J Quesenberry,&nbsp;Z X Song,&nbsp;R J Gualtieri,&nbsp;P M Wade,&nbsp;T A Alberico,&nbsp;F M Stewart,&nbsp;M A Doukas,&nbsp;L Levitt,&nbsp;H E McGrath,&nbsp;L A Rexrode","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"18 ","pages":"171-93"},"PeriodicalIF":0.0,"publicationDate":"1984-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17500148","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
Reconstitution of epithelial transport systems. 上皮运输系统的重构。
Kroc Foundation series Pub Date : 1984-01-01
R Kinne, E Da Cruz, J T Lin
{"title":"Reconstitution of epithelial transport systems.","authors":"R Kinne,&nbsp;E Da Cruz,&nbsp;J T Lin","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"17 ","pages":"309-25"},"PeriodicalIF":0.0,"publicationDate":"1984-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17651295","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
Electrolyte transport in a human colonic cell line: regulation by cAMP and calcium. 人结肠细胞系中电解质运输:cAMP和钙的调控。
Kroc Foundation series Pub Date : 1984-01-01
C A Cartwright, J A McRoberts, K G Mandel, H Masui, K Dharmsathaphorn
{"title":"Electrolyte transport in a human colonic cell line: regulation by cAMP and calcium.","authors":"C A Cartwright,&nbsp;J A McRoberts,&nbsp;K G Mandel,&nbsp;H Masui,&nbsp;K Dharmsathaphorn","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"17 ","pages":"65-75"},"PeriodicalIF":0.0,"publicationDate":"1984-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17163508","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
Plasma membrane Ca2+ transport, and Ca2+ handling by intracellular stores: an integrated picture with emphasis on regulation. 质膜Ca2+运输和Ca2+处理细胞内储存:一个综合的图片，强调调节。
Kroc Foundation series Pub Date : 1984-01-01
E Carafoli
{"title":"Plasma membrane Ca2+ transport, and Ca2+ handling by intracellular stores: an integrated picture with emphasis on regulation.","authors":"E Carafoli","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77744,"journal":{"name":"Kroc Foundation series","volume":"17 ","pages":"121-34"},"PeriodicalIF":0.0,"publicationDate":"1984-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17302145","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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