Molecular genetic medicine最新文献

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Impact of gene targeting on medicine. 基因靶向对医学的影响。
Molecular genetic medicine Pub Date : 1994-01-01 DOI: 10.1016/b978-0-12-462004-9.50009-8
K R Thomas
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引用次数: 6
Protein import deficiencies in human peroxisomal disorders. 人类过氧化物酶体疾病的蛋白质输入不足。
Molecular genetic medicine Pub Date : 1994-01-01 DOI: 10.1016/b978-0-12-462004-9.50008-6
E A Wiemer, S Subramani
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引用次数: 19
Superoxide dismutase, oxygen radical metabolism, and amyotrophic lateral sclerosis. 超氧化物歧化酶,氧自由基代谢,和肌萎缩侧索硬化。
Molecular genetic medicine Pub Date : 1994-01-01 DOI: 10.1016/b978-0-12-462004-9.50007-4
D Patterson, H R Warner, L M Fox, Z Rahmani
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引用次数: 0
Molecular genetics of blindness. 失明的分子遗传学。
Molecular genetic medicine Pub Date : 1994-01-01 DOI: 10.1016/b978-0-12-462004-9.50005-0
G C Black, I W Craig
{"title":"Molecular genetics of blindness.","authors":"G C Black, I W Craig","doi":"10.1016/b978-0-12-462004-9.50005-0","DOIUrl":"https://doi.org/10.1016/b978-0-12-462004-9.50005-0","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"4 ","pages":"1-36"},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18976751","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: 1
Genomic imprinting in humans. 人类基因组印记。
Molecular genetic medicine Pub Date : 1994-01-01 DOI: 10.1016/b978-0-12-462004-9.50006-2
D J Driscoll
{"title":"Genomic imprinting in humans.","authors":"D J Driscoll","doi":"10.1016/b978-0-12-462004-9.50006-2","DOIUrl":"https://doi.org/10.1016/b978-0-12-462004-9.50006-2","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"4 ","pages":"37-77"},"PeriodicalIF":0.0,"publicationDate":"1994-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18976754","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: 21
Molecular biology of cystic fibrosis. 囊性纤维化的分子生物学。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50006-7
M L Drumm, F S Collins
{"title":"Molecular biology of cystic fibrosis.","authors":"M L Drumm,&nbsp;F S Collins","doi":"10.1016/b978-0-12-462003-2.50006-7","DOIUrl":"https://doi.org/10.1016/b978-0-12-462003-2.50006-7","url":null,"abstract":"<p><p>The past decade of research in cystic fibrosis has produced a wealth of information about the underlying defect responsible for the disease. The initial finding that the physiological disturbance in CF is one of abnormal electrolyte transport across epithelial tissues led to the elucidation of a pathway in which epithelial chloride transport is normally elicited in response to beta-adrenergic stimuli and involves the second messenger cAMP to activate protein kinase A. While that pathway was being described, work on the genetic front was concurrently providing information about the genomic location of the gene causing CF, which ultimately led to the identification and cloning of the gene encoding the cystic fibrosis transmembrane conductance regulator. The cloned CFTR gene provided a powerful reagent to use in the next generation of cell physiology experiments, in which it was determined that CFTR is not only the substrate of PKA phosphorylation, a step previously determined to be in the activation pathway of the chloride channel, but is in fact a cAMP-dependent chloride conducting channel itself. Further analysis of the gene has shown that although there is a single mutation that accounts for most of CF, there are well over 200 other lesions within the gene that can cause disease as well. Identification of these mutations has provided information into the normal function of CFTR by studying these variants in heterologous expression systems. As a result, the molecular mechanism of CFTR function is beginning to unfold, as well as the mechanism by which particular mutations impair that function. From a clinical perspective, the research brings optimism from two directions. First, understanding how disease-causing mutations impair function may culminate in pharmacologic approaches that can restore function to some of these mutants. Second, treating the disease at the level of the gene appears to be a realistic goal: Gene transfer experiments in cultured CF cells have shown that the procedure will restore cAMP-dependent chloride conductance to the cells, laying the groundwork for somatic cell gene therapy as a feasible treatment for CF. Currently, work is rapidly progressing in developing delivery systems for this purpose. Finally, animal models that should not only aid in understanding the physiology of electrolyte transport in epithelia but should serve as indicators for tests of therapeutic approaches to treating CF are being developed, either by pharmacological means or by gene delivery protocols.(ABSTRACT TRUNCATED AT 400 WORDS)</p>","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"3 ","pages":"33-68"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/b978-0-12-462003-2.50006-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18695856","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: 6
Molecular biology of Alzheimer's disease. 阿尔茨海默病的分子生物学。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50008-0
P J Whitehouse, G Landreth, S Younkin
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引用次数: 63
Milestone and events in the early development of human gene therapy. 人类基因治疗早期发展的里程碑和事件。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50005-5
T Friedmann
{"title":"Milestone and events in the early development of human gene therapy.","authors":"T Friedmann","doi":"10.1016/b978-0-12-462003-2.50005-5","DOIUrl":"https://doi.org/10.1016/b978-0-12-462003-2.50005-5","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"3 ","pages":"1-32"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19208867","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
Genetics of astrocytic tumor progression. 星形细胞肿瘤进展的遗传学。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50007-9
T Mikkelsen
{"title":"Genetics of astrocytic tumor progression.","authors":"T Mikkelsen","doi":"10.1016/b978-0-12-462003-2.50007-9","DOIUrl":"https://doi.org/10.1016/b978-0-12-462003-2.50007-9","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"3 ","pages":"69-94"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19208870","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: 3
Hunting for Huntington's disease. 寻找亨廷顿舞蹈症。
Molecular genetic medicine Pub Date : 1993-01-01 DOI: 10.1016/b978-0-12-462003-2.50009-2
J F Gusella, M E MacDonald
{"title":"Hunting for Huntington's disease.","authors":"J F Gusella,&nbsp;M E MacDonald","doi":"10.1016/b978-0-12-462003-2.50009-2","DOIUrl":"https://doi.org/10.1016/b978-0-12-462003-2.50009-2","url":null,"abstract":"","PeriodicalId":77272,"journal":{"name":"Molecular genetic medicine","volume":"3 ","pages":"139-58"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19208868","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: 23
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