发明名称 |
Variants of NEDD4L associated with hypertension and viral budding |
摘要 |
Disclosed are compositions and methods related to NEDD4L, a ubiquitin ligase, and hypertension as well as viral budding. A systematic search for genetic polymorphism was conducted by resequencing exon and intron boundaries in human genomic DNA. Isoforms encoding a Ca<SUP>2+</SUP>-dependent lipid binding C2 domain at the N-terminus of NEDD4L were identified. Additional isoforms lacing the Ca<SUP>2+</SUP>-dependent lipid binding C2 domain were also identified. A common polymorphism was identified, Variant 13, with either G (70%) or A (30%) as the last nucleotide of exon 1, which effects splice site finction and formation of the Ca<SUP>2+</SUP>-dependent lipid binding C2 domain. Identified isoforms are present in both kidney and adrenal samples.
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申请公布号 |
US2005277123(A1) |
申请公布日期 |
2005.12.15 |
申请号 |
US20040928446 |
申请日期 |
2004.08.26 |
申请人 |
WEISS ROBERT B;LALOUEL JEAN-MARC;PANKOW JAMES;DUNN DIANE M |
发明人 |
WEISS ROBERT B.;LALOUEL JEAN-MARC;PANKOW JAMES;DUNN DIANE M. |
分类号 |
A61K38/00;C07H21/04;C07K14/47;C07K14/705;C12P21/06;C12Q1/68;(IPC1-7):C12Q1/68 |
主分类号 |
A61K38/00 |
代理机构 |
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