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

The role of regulatory variation in complex traits and disease

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Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies

(2012) Ian J. Barnett et al.   GENETIC EPIDEMIOLOGY

Sp1 Regulates Human Huntingtin Gene Expression

(2012) Ruitao Wang et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

(2012) Mary J Emond et al.   NATURE GENETICS

Oligonucleotide therapeutic approaches for Huntington disease

(2011) Dinah W.Y. Sah et al.   JOURNAL OF CLINICAL INVESTIGATION

Family-based designs for genome-wide association studies

(2011) Jurg Ott et al.   NATURE REVIEWS GENETICS

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

(2010) Silke Metzger et al.   HUMAN GENETICS

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

Comparing Transcription Rate and mRNA Abundance as Parameters for Biochemical Pathway and Network Analysis

(2010) Brewster Hayles et al.   PLoS One

Variation in Transcription Factor Binding Among Humans

(2010) M. Kasowski et al.   SCIENCE

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

(2009) A Nørremølle et al.   CLINICAL GENETICS

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

(2009) Patrick Weydt et al.   Molecular Neurodegeneration

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

(2009) Bing Ge et al.   NATURE GENETICS

Identifying modifier genes of monogenic disease: strategies and difficulties

(2008) Emmanuelle Génin et al.   HUMAN GENETICS

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

(2008) S. Metzger et al.   HUMAN MOLECULAR GENETICS

In Silico Detection of Sequence Variations Modifying Transcriptional Regulation

(2008) Malin C. Andersen et al.   PLoS Computational Biology