Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment (Q35409900)

8 August 2017

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment (English)

1 reference

8 August 2017

Ana C Alves

3

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Cesar Martin

object named as

Cesar Martin

6

0 references

Mafalda Bourbon

object named as

Mafalda Bourbon

5

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author name string

Aitor Etxebarria

1

1 reference

8 August 2017

Asier Benito-Vicente

2

1 reference

8 August 2017

Helena Ostolaza

4

1 reference

8 August 2017

language of work or name

English

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publication date

11 November 2014

1 reference

8 August 2017

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8 August 2017

9

1 reference

8 August 2017

e112677

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8 August 2017

11

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Creative Commons Attribution 4.0 International

8 August 2017

start time

11 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

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Identification of people with heterozygous familial hypercholesterolemia

27 July 2018

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

27 July 2018

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Cascade Screening for Familial Hypercholesterolemia (FH)

27 July 2018

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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

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Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification.

27 July 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

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A method and server for predicting damaging missense mutations

27 July 2018

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Detection of nonneutral substitution rates on mammalian phylogenies

27 July 2018

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Model system for phenotypic characterization of sequence variations in the LDL receptor gene

27 July 2018

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SIFT: Predicting amino acid changes that affect protein function

27 July 2018

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Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

27 July 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

27 July 2018

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Amino acid difference formula to help explain protein evolution

27 July 2018

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The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

27 July 2018

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Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

27 July 2018

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Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

27 July 2018

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The use of fluorescence quenching in flow cytofluorometry to measure the attachment and ingestion phases in phagocytosis in peripheral blood without prior cell separation.

27 July 2018

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Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

27 July 2018

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Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

27 July 2018

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

27 July 2018

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Regulation of the activity of the low density lipoprotein receptor in human fibroblasts

27 July 2018

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Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

27 July 2018

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Cooperation between fixed and low pH-inducible interfaces controls lipoprotein release by the LDL receptor

21 January 2018

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

21 January 2018

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In vitro functional characterization of missense mutations in the LDLR gene.

21 January 2018

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Describing structural changes by extending HGVS sequence variation nomenclature.

21 January 2018

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Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

21 January 2018

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Chronic diseases: the emerging pandemic.

21 January 2018

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Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group

21 January 2018

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Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

26 September 2018

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Molecular genetics of familial hypercholesterolaemia in Norway

26 September 2018

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12 December 2020

Cardiovascular health: the global challenge

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12 December 2020

Changes in the metabolism of modified and unmodified low-density lipoproteins during the maturation of cultured blood monocyte-macrophages from normal and homozygous familial hypercholesterolaemic subjects

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12 December 2020

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes

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12 December 2020

Homocysteine and oxidized low density lipoprotein enhanced platelet adhesion to endothelial cells under flow conditions: distinct mechanisms of thrombogenic modulation

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12 December 2020

10.1371/JOURNAL.PONE.0112677

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DOI

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8 August 2017

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8 August 2017

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