LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis (Q34650934)

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Language	Label	Description	Also known as
English	LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

0 references

0 references

Catherine Boileau

0 references

Mathilde Varret

1 reference

ORCID Public Data File 2021

author name string

Varret M

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Rabés JP

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Thiart R

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Kotze MJ

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Baron H

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Cenarro A

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Descamps O

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Ebhardt M

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Hondelijn JC

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Kostner GM

10

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Miyake Y

11

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Pocovi M

12

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Schmidt H

13

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Schuster H

14

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Stuhrmann M

15

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Yamamura T

16

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Junien C

17

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Béroud C

18

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Boileau C

19

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

0 references

publication date

1 January 1998

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Nucleic Acids Research

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

26

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

248-252

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Software and database for the analysis of mutations in the human LDL receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

A suggested nomenclature for designating mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Cassette of eight exons shared by genes for LDL receptor and EGF precursor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

The low density lipoprotein receptor in Xenopus laevis. I. Five domains that resemble the human receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

7 July 2018

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

26 October 2018

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

26 October 2018

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147253

26 October 2018

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of familial hypercholesterolaemia in Norway

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

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/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

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/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of a novel mutation in the exon 4 of the low‐density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Moderate Hypercholesterolemia Caused by Asp235→Glu Mutation of the LDL Receptor Gene and Co-occurrence of a De Novo Deletion of the LDL Receptor Gene in the Same Family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of familial hypercholesterolemia in Israel

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/26.1.248

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

DBLP publication ID

journals/nar/VarretRTKBCDEHKMPSSSSYJBB98

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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