Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

(2021) Xuechao Jiang et al.   Orphanet Journal of Rare Diseases

Genomic analyses implicate noncoding de novo variants in congenital heart disease

(2020) Felix Richter et al.   NATURE GENETICS

The contribution of non-coding regulatory elements to cardiovascular disease

(2020) Diego Villar et al.   Open Biology

Tumor-Derived Ligands Trigger Tumor Growth and Host Wasting via Differential MEK Activation

(2019) Wei Song et al.   DEVELOPMENTAL CELL

Non-coding DNA in IBD: from sequence variation in DNA regulatory elements to novel therapeutic potential

(2019) Claartje Aleid Meddens et al.   GUT

Discovering human transcription factor physical interactions with genetic variants, novel DNA motifs, and repetitive elements using enhanced yeast one-hybrid assays

(2019) Shaleen Shrestha et al.   GENOME RESEARCH

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits

(2019) Paola Benaglio et al.   NATURE GENETICS

The Human Transcription Factors

(2018) Samuel A. Lambert et al.   CELL

Nuclear compartmentalization, dynamics and function of regulatory DNA sequences

(2018) Marion Cremer et al.   GENES CHROMOSOMES & CANCER

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics

(2018) Matthew D. Krause et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Principles and methods of in-silico prioritization of non-coding regulatory variants

(2017) Phil H. Lee et al.   HUMAN GENETICS

Characterization of noncoding regulatory DNA in the human genome

(2017) Ran Elkon et al.   NATURE BIOTECHNOLOGY

Combinatorial bZIP dimers display complex DNA-binding specificity landscapes

(2017) José A Rodríguez-Martínez et al.   eLife

Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3

(2016) Federico Oldoni et al.   ATHEROSCLEROSIS

The Genetics of Transcription Factor DNA Binding Variation

(2016) Bart Deplancke et al.   CELL

Role of non-coding sequence variants in cancer

(2016) Ekta Khurana et al.   NATURE REVIEWS GENETICS

SNP2TFBS – a database of regulatory SNPs affecting predicted transcription factor binding site affinity

(2016) Sunil Kumar et al.   NUCLEIC ACIDS RESEARCH

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

(2016) Ill-Min Chung et al.   Genes

Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries

(2015) M. Beaudoin et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

The 1000 Genomes Project: Welcome to a New World

(2015) O. Devuyst   PERITONEAL DIALYSIS INTERNATIONAL

NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

(2015) Romaric Bouveret et al.   eLife

Determination and Inference of Eukaryotic Transcription Factor Sequence Specificity

(2014) Matthew T. Weirauch et al.   CELL

Signaling and Transcriptional Networks in Heart Development and Regeneration

(2013) B. G. Bruneau   Cold Spring Harbor Perspectives in Biology

Crystal Structure of the Human NKX2.5 Homeodomain in Complex with DNA Target

(2012) Lagnajeet Pradhan et al.   BIOCHEMISTRY

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Specificity landscapes of DNA binding molecules elucidate biological function

(2010) C. D. Carlson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The developmental genetics of congenital heart disease

(2008) Benoit G. Bruneau   NATURE