Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. (Q55607061)

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scientific article published on 5 June 2018

Language	Label	Description	Also known as
English	Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.	scientific article published on 5 June 2018

Statements

scholarly article

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

8 references

24 March 2019

22 April 2019

22 July 2019

31 July 2019

8 August 2019

19 September 2019

15 December 2019

19 November 2020

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. (English)

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

hypercholesterolemia

0 references

familial hypercholesterolemia

8 references

24 March 2019

22 April 2019

22 July 2019

31 July 2019

8 August 2019

19 September 2019

15 December 2019

19 November 2020

preventive health services

1 reference

22 July 2019

cell surface receptor

1 reference

31 July 2019

1 reference

8 August 2019

biomedical investigative technique

1 reference

19 September 2019

membrane proteins

1 reference

15 December 2019

genetic testing

1 reference

19 November 2020

author name string

Asier Benito-Vicente

1

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

Kepa B Uribe

2

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

Shifa Jebari

3

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

Unai Galicia-Garcia

4

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

Helena Ostolaza

5

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

Cesar Martin

6

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

language of work or name

0 references

publication date

5 June 2018

9 references

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

24 March 2019

22 April 2019

22 July 2019

31 July 2019

8 August 2019

19 September 2019

15 December 2019

19 November 2020

International Journal of Molecular Sciences

9 references

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

24 March 2019

22 April 2019

22 July 2019

31 July 2019

8 August 2019

19 September 2019

15 December 2019

19 November 2020

19

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

6

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

copyright license

Creative Commons Attribution

8 references

24 March 2019

22 April 2019

22 July 2019

31 July 2019

8 August 2019

19 September 2019

15 December 2019

19 November 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

Structural changes induced by acidic pH in human apolipoprotein B-100.

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US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry

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Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

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MicroRNA-148a regulates LDL receptor and ABCA1 expression to control circulating lipoprotein levels

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Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH

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

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

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Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia

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

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A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.

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A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

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Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

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Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor

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Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts

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Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

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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

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Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins

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Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

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

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NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor

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Cytoplasmic sequence required for basolateral targeting of LDL receptor in livers of transgenic mice

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Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions.

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

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Expression of an LDL receptor allele with two different mutations (E256K and I402T).

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Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group

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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

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LDL-receptor structure. Calcium cages, acid baths and recycling receptors.

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

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Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Amino acid difference formula to help explain protein evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

The LDL receptor and the regulation of cellular cholesterol metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

12 August 2018

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6032215

30 November 2018

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lovastatin increases surface low density lipoprotein receptor expression by retarding the receptor internalization rate in proliferating lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the First PCSK9 Gain of Function Homozygote

1 reference

https://pubmed.ncbi.nlm.nih.gov/29874871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3390/IJMS19061676

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

1 reference

Europe PubMed Central

17 July 2018

http://europepmc.org/abstract/PMC/6032215

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