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we discovered one novel locus (LRP2 (show LRP2 Proteins); most significant single nucleotide polymorphism rs12988804) that reached genome-wide significance in predicting relapse risk (HR=2.18, p=3.30x10(-8)).
miR (show MLXIP Proteins)-148b directly down-regulates renal megalin (show LRP2 Proteins) expression.
Exocytosis-mediated urinary C-megalin (show LRP2 Proteins) excretion is associated with the development and progression of diabetic nephropathy in T2DM, particularly due to megalin (show LRP2 Proteins)-mediated lysosomal dysfunction in proximal tubules.
The studies suggest that impaired endocytosis of megalin (show LRP2 Proteins)/cubilin (show CUBN Proteins) ligands, hemoglobin (show HBB Proteins) and albumin (show ALB Proteins), rather than heme toxicity, may be the cause of tubular proteinuria in sickle cell disease patients.
VDR (show CYP27B1 Proteins) and MEGALIN (show LRP2 Proteins) gene variations can alter age-related cognitive trajectories differentially between men and women among African American urban adults, specifically in global mental status and domains of verbal fluency, visual/working memory, and executive function.
the main role for placental megalin (show LRP2 Proteins) is not to mediate uptake of nutrients from the maternal bloodstream; results point toward novel and complex functions for megalin (show LRP2 Proteins) in the cytotrophoblasts.
specific miRNA-146a regulation may contribute to Alzheimer's disease by downregulating the Lrp2 (show LRP2 Proteins)/Akt (show AKT1 Proteins) pathway
abundances of megalin (show LRP2 Proteins) and Dab2 (show DAB2 Proteins) (p = 0.046) were reduced in infected placentas from women with LBW deliveries
homozygous Asp3779Asn and a hemizygous Ile262Met mutations in the LRP2 (show LRP2 Proteins) and TSPYL2 (show TSPYL2 Proteins) genes, respectively, in a Pakistani family with two boys affected with mild nonsyndromic intellectual disability
A rare variant in MCF2L has been identified using exclusion linkage in a pedigree with premature atherosclerosis.
the PH domain of Dbs has a role in regulating Rho GTPase (show RACGAP1 Proteins) activation
the PH domain of Dbs has two roles in the regulation of DH domain function, one for GTPase (show RACGAP1 Proteins) association and activation in vitro and one for phosphoinositide binding and GTPase (show RACGAP1 Proteins) interaction in vivo, that together promote Dbs association with membranes.
Dbs is activated by Rac1 at the pleckstrin (show PLEK Proteins) homology domain
Dbs has the potential to promote proliferation of immature thymocytes, but also sensitizes immature thymocytes to deletion.
Crystal structure of the DH/PH fragment of Dbs without bound GTPase (show RACGAP1 Proteins)
the Sec14 domain regulates Dbs transformation through at least two distinct mechanisms, neither of which appears to directly influence the in vivo exchange activity of the protein
Dbs transformation is associated with increased phosphorylation of myosin light chain and stress fiber formation, both of which occur in a ROCK-dependent manner
The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling\; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).
guanine nucleotide exchange factor DBS
, MCF.2 cell line derived transforming sequence-like
, coagulation factor VII
, guanine nucleotide exchange factor DBS-like
, Heymann nephritis antigen homolog
, calcium sensor protein
, glycoprotein 330
, low-density lipoprotein receptor-related protein 2
, DBL's big sister
, MCF2 transforming sequence-like protein
, MCF2-transforming sequence-like protein
, OST oncogene
, mcf.2 transforming sequence-like
, Ost gamma
, exchange factor for RhoA and Cdc42
, guanine nucleotide exchange factor OSTIII