(Q57605573)

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Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

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18 April 2020

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation (English)

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18 April 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Gary W Beecham

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Badri Vardarajan

78

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Li-San Wang

79

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Richard K Wilson

82

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Daniela Witten

83

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Xiaoling Zhang

85

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Eden R Martin

96

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

language of work or name

0 references

publication date

14 August 2018

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

Molecular Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

https://scigraph.springernature.com/pub.10.1038/s41380-018-0112-7

0 references

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common polygenic variation enhances risk prediction for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

TREM2 Variants in Alzheimer's Disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide analysis of genetic loci associated with Alzheimer disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of Genes and Environments for Explaining Alzheimer Disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Coding mutations in SORL1 and Alzheimer disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common and rare variants in multifactorial susceptibility to common diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common vs. rare allele hypotheses for complex diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The impact of low-frequency and rare variants on lipid levels

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Are rare variants responsible for susceptibility to complex diseases?

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The promise of whole-exome sequencing in medical genetics

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A reference panel of 64,976 haplotypes for genotype imputation

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The Alzheimer's Disease Sequencing Project: Study design and sample selection

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuropathological stageing of Alzheimer-related changes

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Reference-based phasing using the Haplotype Reference Consortium panel

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A Sequence Kernel Association Test for Dichotomous Traits in Family Samples under a Generalized Linear Mixed Model

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Case-control association mapping by proxy using family history of disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

BEDOPS: high-performance genomic feature operations

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

GENCODE: the reference human genome annotation for The ENCODE Project

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

LocusZoom: regional visualization of genome-wide association scan results

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of VIK-1: a new Vav-interacting Kruppel-like protein

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mammalian Krüppel-like factors in health and diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-coding-RNA regulators of RNA polymerase II transcription

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulatory RNAs and control of epigenetic mechanisms: expectations for cognition and cognitive dysfunction

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

An intronic ncRNA-dependent regulation of SORL1 expression affecting Aβ formation is upregulated in post-mortem Alzheimer's disease brain samples.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Distinct Expression of Long Non-Coding RNAs in an Alzheimer's Disease Model.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Human plasma contains cross-reactive Abeta conformer-specific IgG antibodies

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunoglobulin GM genes as functional risk and protective factors for the development of Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Inherent anti-amyloidogenic activity of human immunoglobulin gamma heavy chains

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperglycaemic memory affects the neurovascular unit of the retina in a diabetic mouse model.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Trafficking of presynaptic AMPA receptors mediating neurotransmitter release: neuronal selectivity and relationships with sensitivity to cyclothiazide

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Candidate pathway association study in cocaine dependence: the control of neurotransmitter release

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A quantitative study on the expression of synapsin II and N-ethylmaleimide-sensitive fusion protein in schizophrenic patients

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Sorting receptor SORLA--a trafficking path to avoid Alzheimer disease

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nociceptin/orphanin FQ-NOP receptor system in inflammatory and immune-mediated diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nociceptin/orphanin-FQ modulation of learning and memory

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A genetic variation in the dysbindin gene (DTNBP1) is associated with memory performance in healthy controls

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between the dysbindin gene (DTNBP1) and cognitive functions in Japanese subjects

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A new triggering receptor expressed on myeloid cells (Trem) family member, Trem-like 4, binds to dead cells and is a DNAX activation protein 12-linked marker for subsets of mouse macrophages and dendritic cells

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Latest emerging functions of SPP/SPPL intramembrane proteases

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Amyloid precursor protein traffics from the Golgi directly to early endosomes in an Arl5b- and AP4-dependent pathway.

1 reference

https://api.crossref.org/works/10.1038%2FS41380-018-0112-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Making the diagnosis of Alzheimer's disease. A primer for practicing pathologists.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30108311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/S41380-018-0112-7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30108311%20AND%20SRC:MED&resulttype=core&format=json

18 April 2020

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