Abstract:
INTRODUCTION:Germline mutations in the tumour suppressor gene dyskeratosis congenit 1 (DKC1) cause the cancer prone syndrome called X-linked dyskeratosis congenita. The present study aims to determine whether mutations of the DKC1 gene may also be present in frequent human sporadic cancers (breast, colon and lung cancers), thus potentially contributing to the neoplastic phenotype. MATERIALS AND METHODS:mutation analysis of the DKC1 gene was performed on DNA from 110 primary human lung, 54 breast, and 35 colon cancers, focusing on gene regions where pathogenic germline mutations have been described previously (promoter and exons 1, 3, 9, 10, 11, and 14). RESULTS:Out of a total of 199 primary tumours of different origins, only 5 turned out to have sequence variations in the DKC1 gene. These variations were of two kinds, C8120T and C13554T, which are both classified as synonymous mutations and do not affect DKC1 mRNA splicing. CONCLUSION:direct DKC1 gene mutations are not a frequent event in tumourigenesis, at least in the tumour types investigated and for the DKC1 gene portions considered in this study.
journal_name
Histol Histopatholjournal_title
Histology and histopathologyauthors
Penzo M,Casoli L,Ceccarelli C,Treré D,Ludovini V,Crinò L,Montanaro Ldoi
10.14670/HH-28.365subject
Has Abstractpub_date
2013-03-01 00:00:00pages
365-72issue
3eissn
0213-3911issn
1699-5848journal_volume
28pub_type
杂志文章abstract::The ultrastructure of the atrial myocardium in the monkey (Macaca fascicularis) was studied after bilateral cervical vagotomy and survival times of 100, 175 and 367 days. Changes were observed in the nucleus and the cytoplasm of the myocyte. Sequestered within the nuclei of the affected myocytes were cytoplasmic organ...
journal_title:Histology and histopathology
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更新日期:1989-07-01 00:00:00
abstract::We review here the 14 members of the Monocarboxylate transporter family (MCTs), their relationship based on sequence homology. The range of substrates transported by different members of this family extends from the standard monocarboxylate metabolites, lactic and pyruvic acids, to aromatic amino acids and thyroid hor...
journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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journal_title:Histology and histopathology
pub_type: 杂志文章
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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更新日期:2012-08-01 00:00:00
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章
doi:
更新日期:1992-04-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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更新日期:2004-01-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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journal_title:Histology and histopathology
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更新日期:2002-10-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章
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journal_title:Histology and histopathology
pub_type: 杂志文章
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更新日期:2006-11-01 00:00:00
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journal_title:Histology and histopathology
pub_type: 杂志文章
doi:
更新日期:2013-04-01 00:00:00
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
doi:10.14670/HH-27.559
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journal_title:Histology and histopathology
pub_type: 杂志文章,评审
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
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journal_title:Histology and histopathology
pub_type: 杂志文章
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