(Q39351119)

11 September 2017

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. (English)

1 reference

11 September 2017

1 reference

Stilianos Antonarakis

9

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11 September 2017

1

Christelle Borel

1 reference

11 September 2017

Eugenia Migliavacca

2

1 reference

11 September 2017

Audrey Letourneau

3

1 reference

11 September 2017

Maryline Gagnebin

4

1 reference

11 September 2017

Frédérique Béna

5

1 reference

11 September 2017

M Reza Sailani

6

1 reference

11 September 2017

Emmanouil T Dermitzakis

7

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11 September 2017

Andrew J Sharp

8

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11 September 2017

15 June 2012

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11 September 2017

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11 September 2017

33

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11 September 2017

8

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11 September 2017

1302-1309

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Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

11 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Intra- and inter-individual genetic differences in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Genetic variation of regulatory systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Common regulatory variation impacts gene expression in a cell type-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Missing heritability and strategies for finding the underlying causes of complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Microsatellite mutations in the germline: implications for evolutionary inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

High genomic deleterious mutation rates in hominids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Evaluation of CAG repeat length of androgen receptor expressing cells in human testes showing different pictures of spermatogenic impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

A second generation human haplotype map of over 3.1 million SNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Variable tandem repeats accelerate evolution of coding and regulatory sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Microsatellite instability generates diversity in brain and sociobehavioral traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Melatonin synthesis in retina: cAMP-dependent transcriptional regulation of chicken arylalkylamine N-acetyltransferase by a CRE-like sequence and a TTATT repeat motif in the proximal promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Core promoter STRs: novel mechanism for inter-individual variation in gene expression in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Simple sequence repeats as advantageous mutators in evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Instability of the EPM1 minisatellite

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Personal genomes: The case of the missing heritability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Finding the missing heritability of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Genetic variation of the IL-28B promoter affecting gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Unstable tandem repeats in promoters confer transcriptional evolvability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Analysis of the largest tandemly repeated DNA families in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Mutation of human short tandem repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

CGG repeat in the FMR1 gene: size matters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

Integrating pathway analysis and genetics of gene expression for genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

A microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with increased bilirubin and HDL levels but not with coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

7 January 2021

Thyrotropin-releasing hormone receptor (TRHR) gene is associated with essential hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

7 January 2021

What is expanded in progressive myoclonus epilepsy?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

7 January 2021

From expression QTLs to personalized transcriptomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22115

7 January 2021

Identifiers

DOI

10.1002/HUMU.22115

1 reference

11 September 2017

1 reference