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patients with OCRL-1 (显示 OCRL 抗体) mutations or type 1 Dent disease showed abnormally low levels of urinary A-megalin (显示 LRP2 抗体)
An Emerging Role for Megalin (显示 LRP2 抗体) as a Regulator of Protein Leak in Acute Lung Injury.
Review of LRP2 (显示 LRP2 抗体) function. LRP2 (显示 LRP2 抗体) functions are crucial for developmental processes in a number of tissues, including the brain, the eye, and the heart, and defects in this receptor pathway are the cause of devastating congenital diseases in humans.
A novel LRP2 (显示 LRP2 抗体) missense variant rs17848169 (N2632D) was found to be associated with lower risk for T2D-ESRD in this population.
we discovered one novel locus (LRP2 (显示 LRP2 抗体); most significant single nucleotide polymorphism rs12988804) that reached genome-wide significance in predicting relapse risk (HR=2.18, p=3.30x10(-8)).
miR (显示 MLXIP 抗体)-148b directly down-regulates renal megalin (显示 LRP2 抗体) expression.
Exocytosis-mediated urinary C-megalin (显示 LRP2 抗体) excretion is associated with the development and progression of diabetic nephropathy in T2DM, particularly due to megalin (显示 LRP2 抗体)-mediated lysosomal dysfunction in proximal tubules.
The studies suggest that impaired endocytosis of megalin (显示 LRP2 抗体)/cubilin (显示 CUBN 抗体) ligands, hemoglobin (显示 HBB 抗体) and albumin (显示 ALB 抗体), rather than heme toxicity, may be the cause of tubular proteinuria in sickle cell disease patients.
VDR (显示 CYP27B1 抗体) and MEGALIN (显示 LRP2 抗体) 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 (显示 LRP2 抗体) is not to mediate uptake of nutrients from the maternal bloodstream; results point toward novel and complex functions for megalin (显示 LRP2 抗体) in the cytotrophoblasts.
the PH domain of Dbs has a role in regulating Rho GTPase (显示 RACGAP1 抗体) activation
the PH domain of Dbs has two roles in the regulation of DH domain function, one for GTPase (显示 RACGAP1 抗体) association and activation in vitro and one for phosphoinositide binding and GTPase (显示 RACGAP1 抗体) interaction in vivo, that together promote Dbs association with membranes.
Dbs is activated by Rac1 at the pleckstrin (显示 PLEK 抗体) 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 (显示 RACGAP1 抗体)
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).
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
, guanine nucleotide exchange factor DBS
, MCF2-transforming sequence-like protein
, OST oncogene
, mcf.2 transforming sequence-like
, MCF.2 cell line derived transforming sequence-like
, coagulation factor VII
, guanine nucleotide exchange factor DBS-like
, Ost gamma
, exchange factor for RhoA and Cdc42
, guanine nucleotide exchange factor OSTIII