Abstract:
:WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Sakamoto J,Takata A,Fukuzawa R,Kikuchi H,Sugiyama M,Kanamori Y,Hashizume K,Hata JIdoi
10.1203/00006450-200109000-00008subject
Has Abstractpub_date
2001-09-01 00:00:00pages
337-44issue
3eissn
0031-3998issn
1530-0447journal_volume
50pub_type
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journal_title:Pediatric research
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doi:10.1203/00006450-199608000-00017
更新日期:1996-08-01 00:00:00
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journal_title:Pediatric research
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:1986-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2005-11-01 00:00:00
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journal_title:Pediatric research
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更新日期:1989-11-01 00:00:00
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doi:10.1203/00006450-198404000-00008
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200205000-00006
更新日期:2002-05-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00013
更新日期:1986-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:2008-02-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198204000-00013
更新日期:1982-04-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000182592.76702.E8
更新日期:2005-11-01 00:00:00
abstract::To determine the pathophysiologic significance of pertussis toxin (PT) on the human beta-adrenergic system, beta-adrenoceptor (beta-R)-density and cyclic AMP response of peripheral mononuclear blood cells (MN leukocytes) were studied in children during the paroxysmal stage of natural pertussis infection, after vaccina...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198902000-00026
更新日期:1989-02-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.107
更新日期:2016-10-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2020-08-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章,多中心研究
doi:10.1038/pr.2016.53
更新日期:2016-07-01 00:00:00
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journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199703000-00014
更新日期:1997-03-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198910000-00019
更新日期:1989-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章,评审
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更新日期:2016-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1203/00006450-199208000-00015
更新日期:1992-08-01 00:00:00
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doi:10.1203/00006450-198908000-00012
更新日期:1989-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1203/00006450-198801000-00017
更新日期:1988-01-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198309000-00012
更新日期:1983-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1203/00006450-199502000-00003
更新日期:1995-02-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198707000-00012
更新日期:1987-07-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.59
更新日期:2017-08-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章,评审
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更新日期:2015-01-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200111000-00017
更新日期:2001-11-01 00:00:00
abstract::Newborn rats exposed to 60% O(2) for 14 d demonstrated a bronchopulmonary dysplasia-like lung morphology and pulmonary hypertension. A 21-aminosteroid antioxidant, U74389G, attenuated both pulmonary hypertension and macrophage accumulation in the O(2)-exposed lungs. To determine whether macrophage accumulation played ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200108000-00003
更新日期:2001-08-01 00:00:00
abstract::Exposure of neonatal rats to > or = 95% O2 for 2 wk, a widely used model of oxidant/antioxidant interactions in neonatal lung injury, results in arrested lung growth without the dysplastic lesions observed in chronic human neonatal lung injury. To determine whether dysplastic lung cell growth would be seen at lesser O...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199606000-00001
更新日期:1996-06-01 00:00:00