Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner (Q34403754)

1 August 2017

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner (English)

1 reference

1 August 2017

Simone de Jong

1

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Leonard H van den Berg

5

object named as

Leonard H van den Berg

1 reference

1 August 2017

6

Jan H Veldink

1 reference

1 August 2017

Iouri Chepelev

2

1 reference

1 August 2017

Esther Janson

3

1 reference

1 August 2017

Eric Strengman

4

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1 August 2017

Roel A Ophoff

7

1 reference

1 August 2017

language of work or name

English

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publication date

6 September 2012

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1 August 2017

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1 August 2017

13

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1 August 2017

458

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Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Diversity of human copy number variation and multicopy genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

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=3582489

Multiple common variants for celiac disease influencing immune gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Polymorphisms in CRHR1 and the serotonin transporter loci: gene x gene x environment interactions on depressive symptoms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

The CRF system, stress, depression and anxiety-insights from human genetic studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Evolutionary toggling of the MAPT 17q21.31 inversion region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

lumi: a pipeline for processing Illumina microarray

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Principal components analysis corrects for stratification in genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

A common inversion under selection in Europeans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Tau phosphorylation: physiological and pathological consequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Linkage disequilibrium and association of MAPT H1 in Parkinson 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=3582489

Tau haplotypes regulate transcription and are associated with Parkinson'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=3582489

A comparison of normalization methods for high density oligonucleotide array data based on variance and bias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582489

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-13-458

The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-13-458

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-13-458

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22950410

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-13-458

1 reference

1 August 2017

1 reference

1 August 2017

1 reference