Single-nucleotide polymorphisms of the proprotein convertase subtilisin/kexin type 5 (PCSK5) gene
نویسندگان
چکیده
منابع مشابه
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...
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Department of Biochemistry and Department of Human Genetics, Cardiovascular Research Laboratories, Cardiology Division, Faculty of Medicine, McGill University Health Centre/Royal Victoria Hospital, Montreal, Quebec, H3A 1A1, Canada. Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. Department of Medicine, Helsinki University Central Hospital, HUS...
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متن کاملDeletion of the gene encoding proprotein convertase 5/6 causes early embryonic lethality in the mouse.
PC5 belongs to the proprotein convertase family and activates precursor proteins by cleavage at basic sites during their transit through the secretory pathway and/or at the cell surface. These precursors include prohormones, proreceptors, growth factors, adhesion molecules, and viral glycoproteins. The Pcsk5 gene encodes two alternatively spliced isoforms, the soluble PC5A and transmembrane PC5...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2001
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380170008