A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
作者信息
Hofstra R M, Valdenaire O, Arch E, Osinga J, Kroes H, Löffler B M, Hamosh A, Meijers C, Buys C H
出版信息
Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184.
Abstract
摘要
相似文献
1
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.与先天性巨结肠、心脏缺陷和自主神经功能障碍相关的内皮素转换酶1（ECE - 1）功能丧失突变。
Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184.
2
Big endothelin analogues with inhibitory activity on endothelin-converting enzyme-1.对内皮素转化酶-1具有抑制活性的大内皮素类似物。
J Cardiovasc Pharmacol. 1998;31 Suppl 1:S62-3. doi: 10.1097/00005344-199800001-00020.
3
Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations.人内皮素转化酶（ECE-1）：三种具有不同亚细胞定位的同工型。
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4
[Phe21]big endothelin-1(18-34) and [Ala31]big endothelin-1(18-34) inhibit the human endothelin-converting enzyme-1 (ECE-1) expressed in CHO-K1 cells in a different fashion.
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5
Secretion of endothelin converting enzyme-1a: the hydrophobic signal anchor domain alone is not sufficient to promote membrane localization.内皮素转换酶-1a的分泌：仅疏水信号锚定结构域不足以促进膜定位。
Mol Cell Biochem. 2000 May;208(1-2):45-51. doi: 10.1023/a:1007054312202.
6
Processing of proendothelin-1 at the C-terminus of big endothelin-1 is essential for proteolysis by endothelin-converting enzyme-1 in vivo.在内皮素转化酶-1体内蛋白水解过程中，大内皮素-1 C末端的前内皮素-1加工至关重要。
Eur J Biochem. 1997 Mar 1;244(2):520-6. doi: 10.1111/j.1432-1033.1997.00520.x.
7
Glycosylation of Asn-632 and Asn-651 is important for functional expression of endothelin-converting enzyme-1.天冬酰胺632和天冬酰胺651的糖基化对于内皮素转化酶-1的功能表达很重要。
J Cardiovasc Pharmacol. 1998;31 Suppl 1:S4-6. doi: 10.1097/00005344-199800001-00003.
8
Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene.内皮素转化酶-1基因靶向破坏揭示的内皮素介导的细胞间信号转导的双重遗传途径
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Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease-like distal intestinal aganglionosis.雄性小鼠发育中肠道内内皮素转化酶-1和内皮素-3信使核糖核酸的减少，可能会增加类先天性巨结肠远端肠道神经节缺失症的表现度和外显率。
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Disruption of ECE-1 and ECE-2 reveals a role for endothelin-converting enzyme-2 in murine cardiac development.内皮素转换酶-1和内皮素转换酶-2的破坏揭示了内皮素转换酶-2在小鼠心脏发育中的作用。
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