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human lrp6 apc conjugated antibody  (R&D Systems)


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    Structured Review

    R&D Systems human lrp6 apc conjugated antibody
    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in <t>LRP6</t> , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.
    Human Lrp6 Apc Conjugated Antibody, supplied by R&D Systems, used in various techniques. Bioz Stars score: 92/100, based on 2 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/human lrp6 apc conjugated antibody/product/R&D Systems
    Average 92 stars, based on 2 article reviews
    human lrp6 apc conjugated antibody - by Bioz Stars, 2026-06
    92/100 stars

    Images

    1) Product Images from "Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia"

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    Journal: Metabolites

    doi: 10.3390/metabo12030262

    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in LRP6 , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.
    Figure Legend Snippet: Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in LRP6 , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.

    Techniques Used: Variant Assay, Sequencing

    Variants in CYP7A1 , LDLRAP1 and  LRP6  . The pathogenicity of the variants was evaluated using Varsome, PolyPhen2, Provean, ClinVar, CADD score and Splice AI.
    Figure Legend Snippet: Variants in CYP7A1 , LDLRAP1 and LRP6 . The pathogenicity of the variants was evaluated using Varsome, PolyPhen2, Provean, ClinVar, CADD score and Splice AI.

    Techniques Used:

    Biological and clinical characteristics of the affected carriers of CYP7A1, LDLRAP1 and  LRP6  variant.
    Figure Legend Snippet: Biological and clinical characteristics of the affected carriers of CYP7A1, LDLRAP1 and LRP6 variant.

    Techniques Used: Variant Assay

    Structure of the LRP6 receptor and position of the identified variants . The LRP6 receptor contains the following structural motifs: signal peptide (SP), 4 β-propeller domains, 4 EGF-like domains (involved in the pH-dependent release of ligands in endosome), 3 LDLR type A repeats (responsible for the binding of ligands), a transmembrane anchor (binds the receptor to the cell membrane), and a cytoplasmic domain with PPPSP motifs (2 motifs at position 1487 and 1604 that allow the receptor to function in the Wnt/β-catenin pathway). Red arrows indicate the position of the variants identified in this study. Figure built from data from UniProt ( www.uniprot.org (accessed on 12 October 2020)) and Ensembl ( www.ensembl.org/index.html (accessed on 12 October 2020)) databases.
    Figure Legend Snippet: Structure of the LRP6 receptor and position of the identified variants . The LRP6 receptor contains the following structural motifs: signal peptide (SP), 4 β-propeller domains, 4 EGF-like domains (involved in the pH-dependent release of ligands in endosome), 3 LDLR type A repeats (responsible for the binding of ligands), a transmembrane anchor (binds the receptor to the cell membrane), and a cytoplasmic domain with PPPSP motifs (2 motifs at position 1487 and 1604 that allow the receptor to function in the Wnt/β-catenin pathway). Red arrows indicate the position of the variants identified in this study. Figure built from data from UniProt ( www.uniprot.org (accessed on 12 October 2020)) and Ensembl ( www.ensembl.org/index.html (accessed on 12 October 2020)) databases.

    Techniques Used: Binding Assay, Membrane

    Crystal structure of wild-type and mutant LRP6-E3E4 with β-propeller domains (green) and epidermal growth factor (EGF)-like domains (gray) . ( A , B ) LRP6-E3E4 Tyr972 residue (red) has polar contacts (yellow dotted lines) with Asp971 and Glu993 (blue). ( C , D ) LRP6-E3E4 mutant Cys972 residue (red) has a polar contact (yellow dotted line) only with Asp971 (blue).
    Figure Legend Snippet: Crystal structure of wild-type and mutant LRP6-E3E4 with β-propeller domains (green) and epidermal growth factor (EGF)-like domains (gray) . ( A , B ) LRP6-E3E4 Tyr972 residue (red) has polar contacts (yellow dotted lines) with Asp971 and Glu993 (blue). ( C , D ) LRP6-E3E4 mutant Cys972 residue (red) has a polar contact (yellow dotted line) only with Asp971 (blue).

    Techniques Used: Mutagenesis, Residue

    Effect of inhibited, overexpressed or mutated LRP6 in HEK293T and HuH7 cells . ( A ) LRP6 mRNA expression in HuH7 after the silencing of LRP6 . Reactions were run in triplicate for each cDNA. POLR2A was used as the reference housekeeping gene. The relative quantification of gene expression was performed using the ∆∆C T method and non-transfected cells were used for calibration. ( B ) LDL-Bodipy uptake in HuH7 after silencing of LRP6 . Median fluorescence intensity of 50,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent three independent assays performed in triplicate. ( C ) Expression of WT or mutated LRP6 at the cell surface of transfected HEK293T . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent four independently performed assays. ( D , E ) LRP6 expression in HEK293T cells after transfection with LRP6-WT or mutated plasmid (p.(Thr1479Ile) and p.(Tyr972Cys) variants) . Proteins were extracted from transfected cells, separated by electrophoresis and then transferred onto PVDF membrane. The membrane was incubated with primary antibody (anti-LRP6), followed by incubation with secondary antibody before detection using the iBright TM FL1500 imaging system. Protein was quantified by ImageJ software. Equal loading was confirmed using the ß-actin antibody. Data represent three independent assays. ( F ) LDL uptake in HEK293T after transfection with an empty vector, LRP6-WT or mutated plasmid . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. The fluorescence of each sample was normalized using the empty vector (PcM) as a reference. Data represent three independent assays, each performed in triplicate. In all experiments, the difference between conditions was determined by Bonferroni’s Multiple Comparison Test in one-way ANOVA and * p < 0.05, ** p < 0.01, *** p < 0.001 were considered as statistically significant. Results are shown as mean ± SD. Error bars represent ± SD.
    Figure Legend Snippet: Effect of inhibited, overexpressed or mutated LRP6 in HEK293T and HuH7 cells . ( A ) LRP6 mRNA expression in HuH7 after the silencing of LRP6 . Reactions were run in triplicate for each cDNA. POLR2A was used as the reference housekeeping gene. The relative quantification of gene expression was performed using the ∆∆C T method and non-transfected cells were used for calibration. ( B ) LDL-Bodipy uptake in HuH7 after silencing of LRP6 . Median fluorescence intensity of 50,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent three independent assays performed in triplicate. ( C ) Expression of WT or mutated LRP6 at the cell surface of transfected HEK293T . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent four independently performed assays. ( D , E ) LRP6 expression in HEK293T cells after transfection with LRP6-WT or mutated plasmid (p.(Thr1479Ile) and p.(Tyr972Cys) variants) . Proteins were extracted from transfected cells, separated by electrophoresis and then transferred onto PVDF membrane. The membrane was incubated with primary antibody (anti-LRP6), followed by incubation with secondary antibody before detection using the iBright TM FL1500 imaging system. Protein was quantified by ImageJ software. Equal loading was confirmed using the ß-actin antibody. Data represent three independent assays. ( F ) LDL uptake in HEK293T after transfection with an empty vector, LRP6-WT or mutated plasmid . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. The fluorescence of each sample was normalized using the empty vector (PcM) as a reference. Data represent three independent assays, each performed in triplicate. In all experiments, the difference between conditions was determined by Bonferroni’s Multiple Comparison Test in one-way ANOVA and * p < 0.05, ** p < 0.01, *** p < 0.001 were considered as statistically significant. Results are shown as mean ± SD. Error bars represent ± SD.

    Techniques Used: Expressing, Quantitative Proteomics, Gene Expression, Transfection, Fluorescence, Plasmid Preparation, Electrophoresis, Membrane, Incubation, Imaging, Software, Comparison

    LDL receptor expression, LDL binding and uptake, and LRP6 gene expression in patients EBV-transformed B-lymphocytes. ( A ) LDL receptor, ( B ) LDL-Bodipy binding and ( C ) LDL-Bodipy uptake quantification in EBV-transformed B-lymphocytes from normocholesterolemic subjects (N), LDLR mutation carriers (FH), hypercholesterolemic patients without an identified mutation (FH/M-), and two LRP6 -p.(Val1382Phe) carriers from the HC438 family: II-4 and III-6 (see ). The median fluorescence of living cells is presented. Data represent five independently performed assays. ( D ) LRP6 gene expression. Relative Quantification (RQ) of LRP6 in EBV-transformed B-lymphocytes. Reactions were run in triplicate for each cDNA. HPRT and POL2RA were used as reference genes. The relative quantification was performed using the ∆C T method. ( A – D ). Bonferroni’s Multiple Comparison Test in one-way ANOVA: * p < 0.05, ** p < 0.01, *** p < 0.001.
    Figure Legend Snippet: LDL receptor expression, LDL binding and uptake, and LRP6 gene expression in patients EBV-transformed B-lymphocytes. ( A ) LDL receptor, ( B ) LDL-Bodipy binding and ( C ) LDL-Bodipy uptake quantification in EBV-transformed B-lymphocytes from normocholesterolemic subjects (N), LDLR mutation carriers (FH), hypercholesterolemic patients without an identified mutation (FH/M-), and two LRP6 -p.(Val1382Phe) carriers from the HC438 family: II-4 and III-6 (see ). The median fluorescence of living cells is presented. Data represent five independently performed assays. ( D ) LRP6 gene expression. Relative Quantification (RQ) of LRP6 in EBV-transformed B-lymphocytes. Reactions were run in triplicate for each cDNA. HPRT and POL2RA were used as reference genes. The relative quantification was performed using the ∆C T method. ( A – D ). Bonferroni’s Multiple Comparison Test in one-way ANOVA: * p < 0.05, ** p < 0.01, *** p < 0.001.

    Techniques Used: Expressing, Binding Assay, Gene Expression, Transformation Assay, Mutagenesis, Fluorescence, Quantitative Proteomics, Comparison

    LDL-C levels and weighted Polygenic Risk Score (wPRS) comparison among the carriers of CYP7A1 ,  LRP6  and/or LDLRAP1 variants.
    Figure Legend Snippet: LDL-C levels and weighted Polygenic Risk Score (wPRS) comparison among the carriers of CYP7A1 , LRP6 and/or LDLRAP1 variants.

    Techniques Used: Comparison, Variant Assay



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    R&D Systems human lrp6 apc conjugated antibody
    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in <t>LRP6</t> , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.
    Human Lrp6 Apc Conjugated Antibody, supplied by R&D Systems, used in various techniques. Bioz Stars score: 92/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/human lrp6 apc conjugated antibody/product/R&D Systems
    Average 92 stars, based on 1 article reviews
    human lrp6 apc conjugated antibody - by Bioz Stars, 2026-06
    92/100 stars
      Buy from Supplier

    92
    R&D Systems anti lrp6 apc
    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in <t>LRP6</t> , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.
    Anti Lrp6 Apc, supplied by R&D Systems, used in various techniques. Bioz Stars score: 92/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/anti lrp6 apc/product/R&D Systems
    Average 92 stars, based on 1 article reviews
    anti lrp6 apc - by Bioz Stars, 2026-06
    92/100 stars
      Buy from Supplier

    91
    R&D Systems lrp6 apc antibody
    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in <t>LRP6</t> , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.
    Lrp6 Apc Antibody, supplied by R&D Systems, used in various techniques. Bioz Stars score: 91/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/lrp6 apc antibody/product/R&D Systems
    Average 91 stars, based on 1 article reviews
    lrp6 apc antibody - by Bioz Stars, 2026-06
    91/100 stars
      Buy from Supplier

    Image Search Results


    Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in LRP6 , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Pedigree of the family HC438 with the segregation of p.(Val1382Phe) variant in LRP6 , p.(Pro398Ala) variant in CYP7A1 and p.(Ser202His) variant in LDLRAP1 and the weighted Polygenic Risk Score (wPRS). The proband II-7 is indicated by the black arrow. Squares and circles represent men and women, respectively. Affected family members are indicated by values highlighted in gray. More severely affected family members are indicated by bold values. * Age at lipid measurement in years. ** Myocardial infarction at 75 years old. *** Severe atheroma. # Under ciprofibrate. ## Under 5 mg rosuvastatin treatment. Patients for whom ♦ whole exome, □ whole genome sequencing was performed. Lipid values in mmol/L: TC for total cholesterol; LDL-C for LDL cholesterol; HDL-C for HDL cholesterol; TGs for triglycerides.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Variant Assay, Sequencing

    Variants in CYP7A1 , LDLRAP1 and  LRP6  . The pathogenicity of the variants was evaluated using Varsome, PolyPhen2, Provean, ClinVar, CADD score and Splice AI.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Variants in CYP7A1 , LDLRAP1 and LRP6 . The pathogenicity of the variants was evaluated using Varsome, PolyPhen2, Provean, ClinVar, CADD score and Splice AI.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques:

    Biological and clinical characteristics of the affected carriers of CYP7A1, LDLRAP1 and  LRP6  variant.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Biological and clinical characteristics of the affected carriers of CYP7A1, LDLRAP1 and LRP6 variant.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Variant Assay

    Structure of the LRP6 receptor and position of the identified variants . The LRP6 receptor contains the following structural motifs: signal peptide (SP), 4 β-propeller domains, 4 EGF-like domains (involved in the pH-dependent release of ligands in endosome), 3 LDLR type A repeats (responsible for the binding of ligands), a transmembrane anchor (binds the receptor to the cell membrane), and a cytoplasmic domain with PPPSP motifs (2 motifs at position 1487 and 1604 that allow the receptor to function in the Wnt/β-catenin pathway). Red arrows indicate the position of the variants identified in this study. Figure built from data from UniProt ( www.uniprot.org (accessed on 12 October 2020)) and Ensembl ( www.ensembl.org/index.html (accessed on 12 October 2020)) databases.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Structure of the LRP6 receptor and position of the identified variants . The LRP6 receptor contains the following structural motifs: signal peptide (SP), 4 β-propeller domains, 4 EGF-like domains (involved in the pH-dependent release of ligands in endosome), 3 LDLR type A repeats (responsible for the binding of ligands), a transmembrane anchor (binds the receptor to the cell membrane), and a cytoplasmic domain with PPPSP motifs (2 motifs at position 1487 and 1604 that allow the receptor to function in the Wnt/β-catenin pathway). Red arrows indicate the position of the variants identified in this study. Figure built from data from UniProt ( www.uniprot.org (accessed on 12 October 2020)) and Ensembl ( www.ensembl.org/index.html (accessed on 12 October 2020)) databases.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Binding Assay, Membrane

    Crystal structure of wild-type and mutant LRP6-E3E4 with β-propeller domains (green) and epidermal growth factor (EGF)-like domains (gray) . ( A , B ) LRP6-E3E4 Tyr972 residue (red) has polar contacts (yellow dotted lines) with Asp971 and Glu993 (blue). ( C , D ) LRP6-E3E4 mutant Cys972 residue (red) has a polar contact (yellow dotted line) only with Asp971 (blue).

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Crystal structure of wild-type and mutant LRP6-E3E4 with β-propeller domains (green) and epidermal growth factor (EGF)-like domains (gray) . ( A , B ) LRP6-E3E4 Tyr972 residue (red) has polar contacts (yellow dotted lines) with Asp971 and Glu993 (blue). ( C , D ) LRP6-E3E4 mutant Cys972 residue (red) has a polar contact (yellow dotted line) only with Asp971 (blue).

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Mutagenesis, Residue

    Effect of inhibited, overexpressed or mutated LRP6 in HEK293T and HuH7 cells . ( A ) LRP6 mRNA expression in HuH7 after the silencing of LRP6 . Reactions were run in triplicate for each cDNA. POLR2A was used as the reference housekeeping gene. The relative quantification of gene expression was performed using the ∆∆C T method and non-transfected cells were used for calibration. ( B ) LDL-Bodipy uptake in HuH7 after silencing of LRP6 . Median fluorescence intensity of 50,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent three independent assays performed in triplicate. ( C ) Expression of WT or mutated LRP6 at the cell surface of transfected HEK293T . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent four independently performed assays. ( D , E ) LRP6 expression in HEK293T cells after transfection with LRP6-WT or mutated plasmid (p.(Thr1479Ile) and p.(Tyr972Cys) variants) . Proteins were extracted from transfected cells, separated by electrophoresis and then transferred onto PVDF membrane. The membrane was incubated with primary antibody (anti-LRP6), followed by incubation with secondary antibody before detection using the iBright TM FL1500 imaging system. Protein was quantified by ImageJ software. Equal loading was confirmed using the ß-actin antibody. Data represent three independent assays. ( F ) LDL uptake in HEK293T after transfection with an empty vector, LRP6-WT or mutated plasmid . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. The fluorescence of each sample was normalized using the empty vector (PcM) as a reference. Data represent three independent assays, each performed in triplicate. In all experiments, the difference between conditions was determined by Bonferroni’s Multiple Comparison Test in one-way ANOVA and * p < 0.05, ** p < 0.01, *** p < 0.001 were considered as statistically significant. Results are shown as mean ± SD. Error bars represent ± SD.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: Effect of inhibited, overexpressed or mutated LRP6 in HEK293T and HuH7 cells . ( A ) LRP6 mRNA expression in HuH7 after the silencing of LRP6 . Reactions were run in triplicate for each cDNA. POLR2A was used as the reference housekeeping gene. The relative quantification of gene expression was performed using the ∆∆C T method and non-transfected cells were used for calibration. ( B ) LDL-Bodipy uptake in HuH7 after silencing of LRP6 . Median fluorescence intensity of 50,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent three independent assays performed in triplicate. ( C ) Expression of WT or mutated LRP6 at the cell surface of transfected HEK293T . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. Data represent four independently performed assays. ( D , E ) LRP6 expression in HEK293T cells after transfection with LRP6-WT or mutated plasmid (p.(Thr1479Ile) and p.(Tyr972Cys) variants) . Proteins were extracted from transfected cells, separated by electrophoresis and then transferred onto PVDF membrane. The membrane was incubated with primary antibody (anti-LRP6), followed by incubation with secondary antibody before detection using the iBright TM FL1500 imaging system. Protein was quantified by ImageJ software. Equal loading was confirmed using the ß-actin antibody. Data represent three independent assays. ( F ) LDL uptake in HEK293T after transfection with an empty vector, LRP6-WT or mutated plasmid . The median fluorescence intensity of 100,000 events was acquired for each sample, but only the median fluorescence intensity of living cells is presented. The fluorescence of each sample was normalized using the empty vector (PcM) as a reference. Data represent three independent assays, each performed in triplicate. In all experiments, the difference between conditions was determined by Bonferroni’s Multiple Comparison Test in one-way ANOVA and * p < 0.05, ** p < 0.01, *** p < 0.001 were considered as statistically significant. Results are shown as mean ± SD. Error bars represent ± SD.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Expressing, Quantitative Proteomics, Gene Expression, Transfection, Fluorescence, Plasmid Preparation, Electrophoresis, Membrane, Incubation, Imaging, Software, Comparison

    LDL receptor expression, LDL binding and uptake, and LRP6 gene expression in patients EBV-transformed B-lymphocytes. ( A ) LDL receptor, ( B ) LDL-Bodipy binding and ( C ) LDL-Bodipy uptake quantification in EBV-transformed B-lymphocytes from normocholesterolemic subjects (N), LDLR mutation carriers (FH), hypercholesterolemic patients without an identified mutation (FH/M-), and two LRP6 -p.(Val1382Phe) carriers from the HC438 family: II-4 and III-6 (see ). The median fluorescence of living cells is presented. Data represent five independently performed assays. ( D ) LRP6 gene expression. Relative Quantification (RQ) of LRP6 in EBV-transformed B-lymphocytes. Reactions were run in triplicate for each cDNA. HPRT and POL2RA were used as reference genes. The relative quantification was performed using the ∆C T method. ( A – D ). Bonferroni’s Multiple Comparison Test in one-way ANOVA: * p < 0.05, ** p < 0.01, *** p < 0.001.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: LDL receptor expression, LDL binding and uptake, and LRP6 gene expression in patients EBV-transformed B-lymphocytes. ( A ) LDL receptor, ( B ) LDL-Bodipy binding and ( C ) LDL-Bodipy uptake quantification in EBV-transformed B-lymphocytes from normocholesterolemic subjects (N), LDLR mutation carriers (FH), hypercholesterolemic patients without an identified mutation (FH/M-), and two LRP6 -p.(Val1382Phe) carriers from the HC438 family: II-4 and III-6 (see ). The median fluorescence of living cells is presented. Data represent five independently performed assays. ( D ) LRP6 gene expression. Relative Quantification (RQ) of LRP6 in EBV-transformed B-lymphocytes. Reactions were run in triplicate for each cDNA. HPRT and POL2RA were used as reference genes. The relative quantification was performed using the ∆C T method. ( A – D ). Bonferroni’s Multiple Comparison Test in one-way ANOVA: * p < 0.05, ** p < 0.01, *** p < 0.001.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Expressing, Binding Assay, Gene Expression, Transformation Assay, Mutagenesis, Fluorescence, Quantitative Proteomics, Comparison

    LDL-C levels and weighted Polygenic Risk Score (wPRS) comparison among the carriers of CYP7A1 ,  LRP6  and/or LDLRAP1 variants.

    Journal: Metabolites

    Article Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

    doi: 10.3390/metabo12030262

    Figure Lengend Snippet: LDL-C levels and weighted Polygenic Risk Score (wPRS) comparison among the carriers of CYP7A1 , LRP6 and/or LDLRAP1 variants.

    Article Snippet: A human LRP6 APC-conjugated antibody was purchased from the R&D System and its specificity was confirmed in vitro by ELISA.

    Techniques: Comparison, Variant Assay