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公开(公告)号：US20110020810A1
公开(公告)日：2011-01-27
申请号：US12782075
申请日：2010-05-18
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
摘要翻译： 局灶性和节段性肾小球硬化（FSGS）是一种未知病因的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。
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公开(公告)号：US07745597B2
公开(公告)日：2010-06-29
申请号：US11716050
申请日：2007-03-09
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
摘要翻译： 局灶性和节段性肾小球硬化（FSGS）是一种未知病因的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。
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公开(公告)号：US20060257500A1
公开(公告)日：2006-11-16
申请号：US11417113
申请日：2006-05-04
IPC分类号： A61K33/24 , A61K31/69 , C07H21/04 , C12P21/06 , C07K14/705
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
摘要翻译： 焦点和节段性肾小球硬化（FSGS）是一种病因不明的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。
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公开(公告)号：US09433642B2
公开(公告)日：2016-09-06
申请号：US12782075
申请日：2010-05-18
IPC分类号： A61K33/24 , C07K14/705 , C12Q1/68 , G01N33/68 , A61K38/00 , A61K31/4174 , A61K31/69
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
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公开(公告)号：US20080038365A1
公开(公告)日：2008-02-14
申请号：US11716050
申请日：2007-03-09
IPC分类号： A61K33/00 , A61P13/12 , C07C211/00 , C07H21/04 , C07K14/00 , C07K16/18 , C07K2/00 , C12N5/08 , C12Q1/00 , C12Q1/68 , G01N33/00 , G01N33/53
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
摘要翻译： 局灶性和节段性肾小球硬化（FSGS）是一种未知病因的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。
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