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A novel splice variant in LRP4 (c.316+1G > A) segregated with Cenani-Lenz syndactyly phenotype in a five generations family.
LRP4 mutations alter Wnt (show WNT2 Proteins)/beta catenin (show CTNNB1 Proteins) signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
the first evidence suggesting that LRP4 is responsible for the retention of sclerostin (show SOST Proteins) in the bone environment in humans.
study presents 2 sibling fetuses with a prenatal lethal presentation of mesomelic limb reductions, oligosyndactyly, genitourinary malformation and compound heterozygosity for 2 novel truncating mutations in LRP4
MuSK (show MUSK Proteins) myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK (show MUSK Proteins) but both IgG4 and IgG1-3 can disperse preformed agrin (show AGRN Proteins)-independent AChR clusters
LRP4 is essential for maintaining the structural and functional activity of the neuromuscular junction.
LRP4 is a new CMS (show Cd2ap Proteins) disease gene and the 3rd beta propeller domain of LRP4 mediates two signaling pathways in a position-specific manner.
[review] Autoantibodies against LRP4 differentially alter neuromuscular transmission, demonstrating how myasthenia gravis can be classified according to the profile of the antibodies; management of myasthenia gravis patients can be adapted accordingly.
pathogenic IgG4 antibodies to MuSK (show MUSK Proteins) bind to a structural epitope in the first Ig-like domain of MuSK (show MUSK Proteins), prevent binding between MuSK (show MUSK Proteins) and Lrp4, and inhibit Agrin (show AGRN Proteins)-stimulated MuSK (show MUSK Proteins) phosphorylation.
Cenani-Lenz syndrome in a large Pakistani pedigree is associated with a novel LRP4 missense mutation.
identification of a doublet mutation in complete linkage disequilibrium with syndactyly in one gene of the critical interval: LRP4
autosomal recessive loss-of-function mutations in Megf7/Lrp4 result in a form of syndactyly, mulefoot disease
4 new LRP4 non-synonymous missense point mutations co-segregating in Holstein, German Simmental & Simmental-Charolais families represent independent mutations affecting different conserved protein domains.
data suggest a model whereby Lrp4 (show CORIN Proteins) modulates Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) signaling via interaction with Wnt (show WNT2 Proteins) ligands and antagonists in a context-dependent manner.
a critical role for Lrp4 (show CORIN Proteins), in response to agrin (show AGRN Proteins), in modulating astrocytic ATP release and synaptic transmission
We show that prepatterning in mice requires Lrp4 (show CORIN Proteins) but not the MuSK (show MUSK Proteins) Fz-like domain
The loss of low density lipoprotein receptor-related protein 4 (show CORIN Proteins) compromised foetal swallowing and breathing-like movements and downregulated the expression of aquaporin-9 (show AQP9 Proteins) in the foetal membrane and aquaporin-1 (show AQP1 Proteins) in the placenta, which possibly affected the amniotic fluid clearance.
Reveal novel roles for APP (show APP Proteins) in regulating neuromuscular synapse formation through hetero-oligomeric interaction with LRP4 (show CORIN Proteins) and agrin (show AGRN Proteins) and thereby provide new insights into the molecular mechanisms that govern NMJ formation and maintenance.
Results suggest that mdig may contribute to silica-induced lung fibrosis by altering the balance between Th17 and Treg cells.
These studies demonstrate a role for Lrp4 (show CORIN Proteins) in hippocampal function.
Lrp4 (show CORIN Proteins) is a critical player in bone-mass homeostasis.
Data indicate that LRP4 (low-density lipoprotein receptor-related protein 4 (show CORIN Proteins)) deficiency in bone dramatically elevated serum sclerostin (show SOST Proteins) levels whereas bone expression of Sost (show SOST Proteins) encoding for sclerostin (show SOST Proteins) was unaltered.
found by laser capture microdissection that LRP4 (show CORIN Proteins) expression was induced during chondrocyte differentiation in the growth plate
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome.
low density lipoprotein receptor-related protein 4
, low density lipoprotein receptor-related protein 4-like
, low-density lipoprotein receptor-related protein 4-like
, low-density lipoprotein receptor-related protein 4
, multiple epidermal growth factor-like domains 7
, LDLR dan