(Q45305713)

11 December 2017

title

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease (English)

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11 December 2017

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18

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11 December 2017

22

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11 December 2017

Scott J Neal

3

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Elodie Portales-Casamar

Elodie Portales-Casamar

13

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Nayana Lahiri

Nayana Lahiri

12

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Anne Nørremølle

Anne Nørremølle

2

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Douglas R Langbehn

Douglas R Langbehn

20

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Blair R Leavitt

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Blair R Leavitt

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11 December 2017

21

Michael R Hayden

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11 December 2017

14

Simon C Warby

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11 December 2017

10

Crystal N Doty

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11 December 2017

4

Chris Kay

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11 December 2017

Kristina Bečanović

1

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11 December 2017

Jennifer A Collins

5

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11 December 2017

David Arenillas

6

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11 December 2017

Tobias Lilja

7

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11 December 2017

Giulia Gaudenzi

8

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11 December 2017

Shiana Manoharan

9

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11 December 2017

Jessalyn Beck

11

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11 December 2017

Colúm Connolly

15

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11 December 2017

Rebecca A G De Souza

16

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11 December 2017

REGISTRY Investigators of the European Huntington's Disease Network

17

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11 December 2017

Ola Hermanson

19

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11 December 2017

language of work or name

English

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publication date

4 May 2015

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11 December 2017

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11 December 2017

volume

18

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11 December 2017

issue

6

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11 December 2017

page(s)

807-816

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https://scigraph.springernature.com/pub.10.1038/nn.4014

11 December 2017

exact match

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cites work

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

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Huntington's disease gene (IT15) is widely expressed in human and rat tissues

21 January 2018

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Morphometric analysis of the prefrontal cortex in Huntington's disease

21 January 2018

1 reference

Wild-type huntingtin protects neurons from excitotoxicity

21 January 2018

1 reference

Loss of normal huntingtin function: new developments in Huntington's disease research

21 January 2018

1 reference

Huntington's disease: from molecular pathogenesis to clinical treatment

21 January 2018

1 reference

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

21 January 2018

1 reference

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

21 January 2018

1 reference

The role of regulatory variation in complex traits and disease

21 January 2018

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

21 January 2018

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Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models

21 January 2018

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Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo

21 January 2018

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Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease

21 January 2018

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Functional analysis of the Huntington's disease (HD) gene promoter

21 January 2018

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Isolation and characterization of the rat huntingtin promoter.

21 January 2018

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Proteomics for the early detection and treatment of hepatocellular carcinoma

21 January 2018

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Sp1 regulates human huntingtin gene expression

21 January 2018

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Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

21 January 2018

1 reference

Family-based designs for genome-wide association studies

21 January 2018

1 reference

Detecting rare variant effects using extreme phenotype sampling in sequencing association studies

21 January 2018

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Comparing transcription rate and mRNA abundance as parameters for biochemical pathway and network analysis

21 January 2018

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Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype

21 January 2018

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ST14A cells have properties of a medium-size spiny neuron.

21 January 2018

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Crystal structure of p50/p65 heterodimer of transcription factor NF-kappaB bound to DNA

21 January 2018

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Structure of NF-kappaB p50/p65 heterodimer bound to the PRDII DNA element from the interferon-beta promoter

21 January 2018

1 reference

Caffeic acid phenethyl ester is a potent and specific inhibitor of activation of nuclear transcription factor NF-kappa B

21 January 2018

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4p16.3 haplotype modifying age at onset of Huntington disease.

21 January 2018

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A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

21 January 2018

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Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes

21 January 2018

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Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.

21 January 2018

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Modifier genes in mice and humans

21 January 2018

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Identifying modifier genes of monogenic disease: strategies and difficulties.

21 January 2018

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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

21 January 2018

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Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

21 January 2018

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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

21 January 2018

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The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease

21 January 2018

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Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

21 January 2018

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Variation in transcription factor binding among humans

21 January 2018

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Physiological functions for brain NF-kappaB.

21 January 2018

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Global patterns of cis variation in human cells revealed by high-density allelic expression analysis

21 January 2018

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Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease

21 January 2018

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Oligonucleotide therapeutic approaches for Huntington disease

21 January 2018

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In silico detection of sequence variations modifying transcriptional regulation

21 January 2018

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JASPAR: an open-access database for eukaryotic transcription factor binding profiles

21 January 2018

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The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size

21 January 2018

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12 December 2020

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

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12 December 2020

p53 tumor suppressor protein regulates the levels of huntingtin gene expression

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12 December 2020

Increased Steady-State Mutant Huntingtin mRNA in Huntington's Disease Brain

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12 December 2020

Identifiers

DOI

10.1038/NN.4014

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Dimensions Publication ID

11 December 2017

1052565093

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