Functional characterization of splicing and ligand-binding domain variants in the LDL receptor (Q43614748)

25 November 2017

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

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25 November 2017

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Aitor Etxebarria

1

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25 November 2017

Lourdes Palacios

2

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25 November 2017

Marianne Stef

3

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25 November 2017

Diego Tejedor

4

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25 November 2017

Kepa B Uribe

5

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25 November 2017

Amalia Oleaga

6

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25 November 2017

Luis Irigoyen

7

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25 November 2017

Beatriz Torres

8

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25 November 2017

Helena Ostolaza

9

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25 November 2017

Cesar Martin

10

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25 November 2017

3 November 2011

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25 November 2017

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25 November 2017

33

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25 November 2017

232-243

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25 November 2017

1

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

25 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Aligning multiple genomic sequences with the threaded blockset aligner

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Familial hypercholesterolaemia in Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Analysis of canonical and non-canonical splice sites in mammalian genomes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Nonsense-mediated decay of human LDL receptor mRNA.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21630

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Molecular spectrum of autosomal dominant hypercholesterolemia in France

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Solution structure of the sixth LDL-A module of the LDL receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Calcium as a crucial cofactor for low density lipoprotein receptor folding in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Analysis of alternatively spliced isoforms of human LDL receptor mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Statistical features of human exons and their flanking regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

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https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

The molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Binding characteristics of a panel of monoclonal antibodies against the ligand binding domain of the human LDLr

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21630

7 January 2021

Identifiers

DOI

10.1002/HUMU.21630

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25 November 2017

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