An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

Limb development: a paradigm of gene regulation

(2017) Florence Petit et al.   NATURE REVIEWS GENETICS

Zinc sensing by metal-responsive transcription factor 1 (MTF1) controls metallothionein and ZnT1 expression to buffer the sensitivity of the transcriptome response to zinc

(2016) J. E. J. Hardyman et al.   Metallomics

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles

(2016) François Spitz   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

(2016) Theodor Todorov et al.   PLoS One

Metal responsive transcription factor 1 (MTF-1) regulates zinc dependent cellular processes at the molecular level

(2015) Agata Grzywacz et al.   ACTA BIOCHIMICA POLONICA

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

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

Wilson's disease and other neurological copper disorders

(2015) Oliver Bandmann et al.   LANCET NEUROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease

(2014) Cong-Xia Lu et al.   European Journal of Medical Genetics

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

(2014) Martin Kircher et al.   NATURE GENETICS

Enhancer variants: evaluating functions in common disease

(2014) Olivia Corradin et al.   Genome Medicine

A genetic study of Wilson’s disease in the United Kingdom

(2013) Alison J. Coffey et al.   BRAIN

Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data

(2013) B. L. Browning et al.   GENETICS

PRISM offers a comprehensive genomic approach to transcription factor function prediction

(2013) A. M. Wenger et al.   GENOME RESEARCH

Genetic defects in Indian Wilson disease patients and genotype–phenotype correlation

(2013) Shashwata Mukherjee et al.   PARKINSONISM & RELATED DISORDERS

The taste of heavy metals: Gene regulation by MTF-1

(2012) Viola Günther et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

(2010) Lei Wan et al.   HEPATOLOGY

Comparative analysis of MTF-1 binding sites between human and mouse

(2010) Minghui Wang et al.   MAMMALIAN GENOME

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Metal transcription factor-1 regulation via MREs in the transcribed regions of selenoprotein H and other metal-responsive genes

(2009) Zoia R. Stoytcheva et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Management of Gene Promoter Mutations in Molecular Diagnostics

(2009) K. M. K. de Vooght et al.   CLINICAL CHEMISTRY

Expression and localisation of the essential copper transporter DmATP7 in Drosophila neuronal and intestinal tissues

(2008) Richard Burke et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY