Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease (Q41462957)

1 October 2017

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease (English)

1 reference

Christine Van Broeckhoven

1 October 2017

0 references

43

Christine Van Broeckhoven

0 references

Janine Diehl-Schmid

31

Janine Diehl-Schmid

0 references

Tobi Van den Bossche

2

Tobi Van den Bossche

1 reference

1 October 2017

44

Kristel Sleegers

1 reference

1 October 2017

38

Radoslav Matěj

1 reference

1 October 2017

Sebastiaan Engelborghs

41

Sebastiaan Engelborghs

1 reference

1 October 2017

Jan Verheijen

4

0 references

Wouter De Coster

Wouter De Coster

5

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Oriol Grau-Rivera

Oriol Grau-Rivera

15

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Zdenek Rohan

Zdenek Rohan

39

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Madalena Martins

Madalena Martins

26

0 references

Maria R Almeida

Maria Rosário Almeida

29

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Luisa Benussi

Luisa Benussi

22

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Roberta Ghidoni

Roberta Ghidoni

23

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Raquel Sanchez-Valle

Raquel Sanchez-Valle

10

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Pau Pastor

Pau Pastor

17

0 references

Benedetta Nacmias

Benedetta Nacmias

12

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María A Pastor

Maria A Pastor

19

0 references

Caroline Graff

20

Caroline Graff

1 reference

1 October 2017

27

Barbara Borroni

1 reference

1 October 2017

36

Magda Tsolaki

1 reference

1 October 2017

3

Julie van der Zee

1 reference

1 October 2017

13

Sandro Sorbi

1 reference

1 October 2017

14

Ellen Gelpi

1 reference

1 October 2017

21

Håkan Thonberg

1 reference

1 October 2017

Alexandre de Mendonça

25

Alexandre de Mendonça

1 reference

1 October 2017

28

Alessandro Padovani

1 reference

1 October 2017

30

Isabel Santana

1 reference

1 October 2017

33

Jordi Clarimon

1 reference

1 October 2017

35

Juan Fortea

1 reference

1 October 2017

40

Peter De Deyn

1 reference

1 October 2017

Albert Llado Plarrumani

11

Albert Lladó

1 reference

1 October 2017

42

Patrick Cras

1 reference

1 October 2017

7

Lubina Dillen

1 reference

1 October 2017

9

Bavo Heeman

1 reference

1 October 2017

18

Sara Ortega-Cubero

1 reference

1 October 2017

24

Giuliano Binetti

1 reference

1 October 2017

34

Alberto Lleó

1 reference

1 October 2017

37

Maria Koutroumani

1 reference

1 October 2017

Estrella Gómez-Tortosa

16

Estrella Gómez-Tortosa

1 reference

1 October 2017

1

Arne De Roeck

1 reference

1 October 2017

6

Jasper Van Dongen

1 reference

1 October 2017

Yalda Baradaran-Heravi

8

Yalda Baradaran-Heravi

1 reference

1 October 2017

Panagiotis Alexopoulos

32

Panagiotis Alexopoulos

1 reference

1 October 2017

European Early-Onset Dementia (EU EOD) consortium

45

1 reference

1 October 2017

27 April 2017

1 reference

1 October 2017

Acta Neuropathologica

1 reference

Creative Commons Attribution 4.0 International

1 October 2017

start time

27 April 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00401-017-1714-x

0 references

cites work

ABCA7 loss-of-function variants, expression, and neurologic disease risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Benchmarking of the Oxford Nanopore MinION sequencing for quantitative and qualitative assessment of cDNA populations

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 rare variants and Alzheimer disease risk

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Molecular genetics of early-onset Alzheimer's disease revisited

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Understanding the function of ABCA7 in Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Poretools: a toolkit for analyzing nanopore sequence data

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Trimmomatic: a flexible trimmer for Illumina sequence data

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

A general framework for estimating the relative pathogenicity of human genetic variants

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Splicing therapy for neuromuscular disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Deletion of Abca7 increases cerebral amyloid-β accumulation in the J20 mouse model of Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Sense from nonsense: therapies for premature stop codon diseases.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Genome-wide analysis of genetic loci associated with Alzheimer disease

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Fast and accurate long-read alignment with Burrows-Wheeler transform

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Circos: an information aesthetic for comparative genomics

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ATP-binding cassette transporter A7 enhances phagocytosis of apoptotic cells and associated ERK signaling in macrophages

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 expression is regulated by cellular cholesterol through the SREBP2 pathway and associated with phagocytosis

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

novoSNP, a novel computational tool for sequence variation discovery

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

GMAP: a genomic mapping and alignment program for mRNA and EST sequences

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

Potential role of ABCA7 in cellular lipid efflux to apoA-I

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

ABCA7 Mediates Phagocytic Clearance of Amyloid-β in the Brain.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

The evolutionary landscape of alternative splicing in vertebrate species

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5563332

10.1007/S00401-017-1714-X

4 November 2018

Identifiers

DOI

1 reference

1 October 2017

1 reference

1 October 2017

1 reference