A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. (Q34329723)

1 August 2017

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. (English)

1 reference

1 August 2017

0 references

12

0 references

Jean Weissenbach

7

0 references

Jean-Pierre Rabès

Jean-Pierre Rabès

3

0 references

Mathilde Varret

Mathilde Varret

18

0 references

Catherine Boileau

Catherine Boileau

17

0 references

Ludovic Villéger

5

Ludovic Villéger

1 reference

1 August 2017

14

Marianne Abifadel

1 reference

1 August 2017

6

Delphine Allard

1 reference

1 August 2017

11

Claudine Junien

1 reference

1 August 2017

4

Martine Devillers

1 reference

1 August 2017

10

Danièle Erlich

1 reference

1 August 2017

9

Yassine Zair

1 reference

1 August 2017

Alice Marques-Pinheiro

1

Alice Marques-Pinheiro

1 reference

1 August 2017

8

Maryse Guerin

1 reference

1 August 2017

15

Jean-Philippe Jaïs

1 reference

French Research Network on ADH

1 August 2017

16

French Research Network on ADH

1 reference

1 August 2017

Marie Marduel

2

1 reference

1 August 2017

Michel Krempf

13

1 reference

1 August 2017

23 June 2010

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

18

1 reference

1 August 2017

1236-1242

1 reference

1 August 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.94

1 August 2017

0 references

cites work

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Molecular basis of PCSK9 function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

A genome-wide linkage scan identifies multiple chromosomal regions influencing serum lipid levels in the population on the Samoan islands

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

LDL-cholesterol concentrations: a genome-wide association study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Endosome-associated complex, ESCRT-II, recruits transport machinery for protein sorting at the multivesicular body

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Clathrin adaptors really adapt

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Adaptors for clathrin-mediated traffic

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

The LIN-2/LIN-7/LIN-10 complex mediates basolateral membrane localization of the C. elegans EGF receptor LET-23 in vulval epithelial cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Allele-sharing models: LOD scores and accurate linkage tests

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Parametric and nonparametric linkage analysis: a unified multipoint approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Transport from late endosomes to lysosomes, but not sorting of integral membrane proteins in endosomes, depends on the vacuolar proton pump.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

A receptor-mediated pathway for cholesterol homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Exact genetic linkage computations for general pedigrees.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.94

Involvement of the GTPase Rho in the cellular uptake of low density lipoprotein by human skin fibroblasts

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.94

Genome-wide linkage analysis of lipids in nondiabetic Chinese and Japanese from the SAPPHIRe family study

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Polarized signaling: basolateral receptor localization in epithelial cells by PDZ-containing proteins

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Computer programs for multilocus haplotyping of general pedigrees.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987478

Isolation, characterization, and assay of lecithin-cholesterol acyltransferase

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20571503

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20571503

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20571503

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.94

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference