Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity.
第一作者:
Simona,Frateschi
第一单位:
Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.
作者:
医学主题词
氨基酸序列(Amino Acid Sequence);动物(Animals);体重(Body Weight);脱水(Dehydration);胚胎, 哺乳动物(Embryo, Mammalian);基因表达调控(Gene Expression Regulation);HEK293细胞(HEK293 Cells);毛发(Hair);人类(Humans);遗传方式(Inheritance Patterns);离子通道闸门(Ion Channel Gating);小鼠(Mice);模型, 动物(Models, Animal);模型, 分子(Models, Molecular);分子序列数据(Molecular Sequence Data);突变蛋白质类(Mutant Proteins);突变(Mutation);器官特异性(Organ Specificity);表型(Phenotype);蛋白质结构, 三级(Protein Structure, Tertiary);大鼠(Rats);丝氨酸内肽酶类(Serine Endopeptidases);皮肤(Skin);结构同源性, 蛋白质(Structural Homology, Protein);爪蟾属(Xenopus)
DOI
10.1016/j.ajpath.2012.05.007
PMID
22705055
发布时间
2012-07-23
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