Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma (Q34381669)

1 August 2017

title

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma (English)

1 reference

Mariely DeJesus-Hernandez

1 August 2017

14

Allissa Dillman

0 references

8

Mariely DeJesus-Hernandez

0 references

Rosa Rademakers

19

Rosa Rademakers

1 reference

1 August 2017

16

Ronald C Petersen

1 reference

1 August 2017

12

Mark R Cookson

1 reference

1 August 2017

11

Andrew Singleton

1 reference

1 August 2017

15

Dena Hernandez

1 reference

1 August 2017

Neill R Graff-Radford

17

Neill R Graff-Radford

1 reference

1 August 2017

18

Steven G Younkin

1 reference

1 August 2017

7

Talisha A Hunter

1 reference

1 August 2017

Minerva M Carrasquillo

1

Minerva M Carrasquillo

1 reference

1 August 2017

9

Gina D Bisceglio

1 reference

1 August 2017

4

J Raphael Gibbs

1 reference

1 August 2017

author name string

Alexandra M Nicholson

2

1 reference

1 August 2017

NiCole Finch

3

1 reference

1 August 2017

Matt Baker

5

1 reference

1 August 2017

Nicola J Rutherford

6

1 reference

1 August 2017

Ian R Mackenzie

10

1 reference

1 August 2017

Julia E Crook

13

1 reference

1 August 2017

language of work or name

English

0 references

publication date

18 November 2010

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

87

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

890-897

1 reference

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin.

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Role of progranulin as a biomarker for Alzheimer's 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=2997361

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid 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=2997361

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Progranulin is expressed within motor neurons and promotes neuronal cell survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

The granulin gene family: from cancer to dementia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Common regulatory variation impacts gene expression in a cell type-dependent manner

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Recent insights into the molecular genetics of dementia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

The Vps10p-domain receptor family.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Frontotemporal dementia: therapeutic interventions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's 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=2997361

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Genetics of gene expression and its effect on 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=2997361

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=2997361

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

ProBDNF induces neuronal apoptosis via activation of a receptor complex of p75NTR and sortilin.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Sortilin is essential for proNGF-induced neuronal cell death

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

The 100-kDa neurotensin receptor is gp95/sortilin, a non-G-protein-coupled receptor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal 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=2997361

Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health Study

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Progranulin variability has no major role in Parkinson disease genetic etiology

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Roles for the pro-neurotrophin receptor sortilin in neuronal development, aging and brain injury

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

27 October 2018

Frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997361

Low Serum Progranulin Predicts the Presence of Mutations: A Prospective Study

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21087763

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21087763

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.11.002

1 reference

1 August 2017

1 reference

1 August 2017

1 reference