Current status on Alzheimer disease molecular genetics: from past, to present, to future (Q33871345)

29 July 2017

1 reference

25 April 2019

Current status on Alzheimer disease molecular genetics: from past, to present, to future (English)

1 reference

Christine Van Broeckhoven

29 July 2017

1 reference

25 April 2019

series ordinal

3

object named as

Christine Van Broeckhoven

0 references

Kristel Sleegers

series ordinal

2

object named as

Kristel Sleegers

1 reference

29 July 2017

Karolien Bettens

1

1 reference

PubMed ID

20388643

29 July 2017

language of work or name

1 reference

13 April 2010

1 reference

PubMed ID

20388643

29 July 2017

15 April 2010

1 reference

25 April 2019

Human Molecular Genetics

2 references

29 July 2017

25 April 2019

19

1 reference

29 July 2017

R4-R11

1 reference

29 July 2017

R1

1 reference

Creative Commons Attribution-NonCommercial

29 July 2017

1 reference

on focus list of Wikimedia project

25 April 2019

ScienceSource

0 references

cites work

Genome-wide association studies in Alzheimer's disease

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Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

28 July 2018

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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

28 July 2018

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From association to causality: the new frontier for complex traits

28 July 2018

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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

28 July 2018

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Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

28 July 2018

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Mathematical properties of the r2 measure of linkage disequilibrium

28 July 2018

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Common and rare variants in multifactorial susceptibility to common diseases

28 July 2018

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Evidence for CALM in directing VAMP2 trafficking

28 July 2018

1 reference

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Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

28 July 2018

1 reference

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Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

28 July 2018

1 reference

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APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

28 July 2018

1 reference

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The extracellular chaperone clusterin influences amyloid formation and toxicity by interacting with prefibrillar structures

28 July 2018

1 reference

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Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

28 July 2018

1 reference

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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

28 July 2018

1 reference

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Transport pathways for clearance of human Alzheimer's amyloid beta-peptide and apolipoproteins E and J in the mouse central nervous system

28 July 2018

1 reference

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

28 July 2018

1 reference

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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

28 July 2018

1 reference

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Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

28 July 2018

1 reference

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Role of Genes and Environments for Explaining Alzheimer Disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Genome-wide association studies: theoretical and practical concerns

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Alzheimer's disease: one disorder, too many genes?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Prediction of mammalian microRNA targets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Prominent neurodegeneration and increased plaque formation in complement-inhibited Alzheimer's mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Multiple receptors mediate apoJ-dependent clearance of cellular debris into nonprofessional phagocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Large upward bias in estimation of locus-specific effects from genomewide scans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Influence of lipoproteins on microglial degradation of Alzheimer's amyloid beta-protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Prevalence of dementia and major subtypes in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

The number of trait loci in late-onset Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Presenilin mutations in Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Interaction of apolipoprotein J-amyloid beta-peptide complex with low density lipoprotein receptor-related protein-2/megalin. A mechanism to prevent pathological accumulation of amyloid beta-peptide

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Aggregation state-dependent activation of the classical complement pathway by the amyloid beta peptide.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

The gene defects responsible for familial Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Evidence that the 42- and 40-amino acid forms of amyloid beta protein are generated from the beta-amyloid precursor protein by different protease activities

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Gametic disequilibrium measures: proceed with caution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Amyloid deposition as the central event in the aetiology of Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Neuropathological stageing of Alzheimer-related changes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Dynamics of gene expression for a hippocampal glycoprotein elevated in Alzheimer's disease and in response to experimental lesions in rat.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

The molecular pathology of Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Alzheimer's disease: the amyloid cascade hypothesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

SP-40,40 is a constituent of Alzheimer's amyloid

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

DNMBP is genetically associated with Alzheimer dementia in the Belgian population.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Variations in the APP gene promoter region and risk of Alzheimer disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Phenotype associated with APP duplication in five families.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Peripheral clearance of amyloid beta peptide by complement C3-dependent adherence to erythrocytes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: a case-control study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

How many genes underlie the occurrence of common complex diseases in the population?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

On the allelic spectrum of human disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Purification and characterization of brain clusterin

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Clusterin (apoJ) alters the aggregation of amyloid beta-peptide (A beta 1-42) and forms slowly sedimenting A beta complexes that cause oxidative stress.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875058

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

29 October 2018

1 reference

12 December 2020

Population genetics--making sense out of sequence

1 reference

12 December 2020

The carboxyl termini of beta-amyloid peptides 1-40 and 1-42 are generated by distinct gamma-secretase activities

1 reference

12 December 2020

Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ142

1 reference

release_4nsr6bzgkneyfk37solbaxb4ve

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4nsr6bzgkneyfk37solbaxb4ve

24 November 2022

mapped directly with Wikidata item

PMCID

2875058

1 reference

29 July 2017

1 reference

PubMed ID

20388643