VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
about
Furin is the primary in vivo convertase of angiopoietin-like 3 and endothelial lipase in hepatocytesVACTERL/VATER AssociationThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationβ-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapiesIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesNprl3 is required for normal development of the cardiovascular systemThe complex extracellular biology of Streptomyces.What lies ahead for the proprotein convertases?Imaging proprotein convertase activities and their regulation in the implanting mouse blastocyst.Furin is the major processing enzyme of the cardiac-specific growth factor bone morphogenetic protein 10.Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defectsSirenomelia and severe caudal regression syndrome.Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.PCSK5 mutation in a patient with the VACTERL association.Variant mapping and mutation discovery in inbred mice using next-generation sequencingHomeobox C9 is not potentially related to congenital heart disease in Chinese patientsGenetic and cellular mechanisms regulating anterior foregut and esophageal development.Loss of endothelial furin leads to cardiac malformation and early postnatal death.Sacral agenesis: a pilot whole exome sequencing and copy number study.Anorectal atresia and variants at predicted regulatory sites in candidate genes.VATER/VACTERL Association: Evidence for the Role of Genetic FactorsVACTERL Association Etiology: The Impact of de novo and Rare Copy Number VariationsAdriamycin-Induced Models of VACTERL Association.Considering the Embryopathogenesis of VACTERL AssociationHigh-throughput analysis of mouse embryos by magnetic resonance imagingPeptide processing and biology in human disease.Novel regulators of Fgf23 expression and mineralization in Hyp boneThe proprotein convertase PC5/6 is protective against intestinal tumorigenesis: in vivo mouse model.Genetics of the first seven proprotein convertase enzymes in health and disease.Site-specific cleavage of BMP4 by furin, PC6, and PC7.Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL associationUnderlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Establishment of Hox vertebral identities in the embryonic spine precursorsGenetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureEtiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Transcriptional profiling of osseointegration in humans.Posttranslational processing of FGF23 in osteocytes during the osteoblast to osteocyte transition.Prenatal exposure to environmental factors and congenital limb defects.The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
P2860
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P2860
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@ast
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en-gb
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@nl
type
label
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@ast
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en-gb
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@nl
prefLabel
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@ast
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en-gb
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
VACTERL/caudal regression/Curr ...... he proprotein convertase Pcsk5
@en
P2093
Andrew Morris
Angela Franklyn
Armando Cama
Charles Shaw-Smith
Daniel Mesnard
Dave Stammers
Dorota Szumska
Guido Pieles
Jamie Bentham
Jennifer M Taylor
P2860
P304
P3181
P356
10.1101/GAD.479408
P407
P50
P577
2008-06-01T00:00:00Z