An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. (Q38745838)

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11 February 2020

title

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

1 reference

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11 February 2020

author

Maria Donata Di Taranto

2

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11 February 2020

Marco Gentile

7

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11 February 2020

Giuliana Fortunato

12

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11 February 2020

author name string

Maria Romano

1

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11 February 2020

Peppino Mirabelli

3

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11 February 2020

Maria Nicoletta D'Agostino

4

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11 February 2020

Arcangelo Iannuzzi

5

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11 February 2020

Gennaro Marotta

6

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11 February 2020

Maddalena Raia

8

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11 February 2020

Rosa Di Noto

9

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11 February 2020

Luigi Del Vecchio

10

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11 February 2020

Paolo Rubba

11

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11 February 2020

publication date

24 August 2011

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Journal of Lipid Research

11 February 2020

published in

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11 February 2020

volume

52

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11 February 2020

page(s)

2095-2100

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11 February 2020

issue

11

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Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Utility of lymphoblastoid cell lines

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Non-sterol regulation of low density lipoprotein receptor gene expression in T cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

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.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Surface expression of low density lipoprotein receptor in EBV-transformed lymphocytes: characterization and use for studying familial hypercholesterolemia.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196240

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1194%2FJLR.D017772

Improved detection of familial hypercholesterolemia by determining low density lipoprotein receptor expression in mitogen-induced proliferating lymphocytes

21 January 2018

1 reference

12 December 2020

FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation

1 reference

12 December 2020

Flow cytometric assessment of LDL receptor activity in peripheral blood mononuclear cells compared to gene mutation detection in diagnosis of heterozygous familial hypercholesterolemia

1 reference

12 December 2020

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

1 reference

12 December 2020

Standardization of a flow cytometric method for measurement of low-density lipoprotein receptor activity on blood mononuclear cells

1 reference

12 December 2020

Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia

1 reference

12 December 2020

Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes

1 reference

12 December 2020

Fluorescence flow cytometry of human leukocytes in the detection of LDL receptor defects in the differential diagnosis of hypercholesterolemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1194/JLR.D017772

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21865347%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

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11 February 2020

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