Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease

Unbiased Profiling of Isogenic Huntington Disease hPSC-Derived CNS and Peripheral Cells Reveals Strong Cell-Type Specificity of CAG Length Effects

(2019) Jolene Ooi et al.   Cell Reports

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

(2019) Laura M. Huckins et al.   NATURE GENETICS

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

(2019) Galen E.B. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

Transcriptional regulatory networks underlying gene expression changes in Huntington's disease

(2018) Seth A Ament et al.   Molecular Systems Biology

A molecular network of the aging human brain provides insights into the pathology and cognitive decline of Alzheimer’s disease

(2018) Sara Mostafavi et al.   NATURE NEUROSCIENCE

GeneMANIA update 2018

(2018) Max Franz et al.   NUCLEIC ACIDS RESEARCH

N6-Furfuryladenine is protective in Huntington’s disease models by signaling huntingtin phosphorylation

(2018) Laura E. Bowie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

(2018) Ting Qi et al.   Nature Communications

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

(2018) Connor A. Emdin et al.   Nature Communications

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Basal Suppression of the Sonic Hedgehog Pathway by the G-Protein-Coupled Receptor Gpr161 Restricts Medulloblastoma Pathogenesis

(2018) Issei S. Shimada et al.   Cell Reports

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

(2018) Jeffrey D. Long et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA Repair Signaling of Huntingtin: The Next Link Between Late-Onset Neurodegenerative Disease and Oxidative DNA Damage

(2018) Tamara Maiuri et al.   DNA AND CELL BIOLOGY

FAN1 modifies Huntington’s disease progression by stabilising the expanded HTT CAG repeat

(2018) Robert Goold et al.   HUMAN MOLECULAR GENETICS

Drug repurposing: progress, challenges and recommendations

(2018) Sudeep Pushpakom et al.   NATURE REVIEWS DRUG DISCOVERY

Monosynaptic retrograde tracing of neurons expressing the G-protein coupled receptor Gpr151 in the mouse brain

(2017) Jonas Broms et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease

(2017) Luana Naia et al.   JOURNAL OF NEUROSCIENCE

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells

(2017) Kalina Wiatr et al.   MOLECULAR NEUROBIOLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Regulation of mRNA Translation in Neurons—A Matter of Life and Death

(2017) Mridu Kapur et al.   NEURON

Huntington’s Disease iPSC-Derived Brain Microvascular Endothelial Cells Reveal WNT-Mediated Angiogenic and Blood-Brain Barrier Deficits

(2017) Ryan G. Lim et al.   Cell Reports

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells

(2017) Xiaohong Xu et al.   Stem Cell Reports

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

(2016) Jae Whan Keum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Integrated genomics and proteomics define huntingtin CAG length–dependent networks in mice

(2016) Peter Langfelder et al.   NATURE NEUROSCIENCE

The Biology of Huntingtin

(2016) Frédéric Saudou et al.   NEURON

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

(2015) Sanne W. ten Broeke et al.   JOURNAL OF CLINICAL ONCOLOGY

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

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

(2015) Kristina Bečanović et al.   NATURE NEUROSCIENCE

Protective alleles and modifier variants in human health and disease

(2015) Andrew R. Harper et al.   NATURE REVIEWS GENETICS

Mitochondrial targeting sequence variants of theCHCHD2gene are a risk for Lewy body disorders

(2015) Kotaro Ogaki et al.   NEUROLOGY

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pharmaceutical integrated stress response enhancement protects oligodendrocytes and provides a potential multiple sclerosis therapeutic

(2015) Sharon W. Way et al.   Nature Communications

Huntington disease

(2015) Gillian P. Bates et al.   Nature Reviews Disease Primers

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Cognitive decline in prodromal Huntington Disease: implications for clinical trials

(2013) Jane S Paulsen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin

(2013) Nicholas Stephane Caron et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Derivation of blood-brain barrier endothelial cells from human pluripotent stem cells

(2012) Ethan S Lippmann et al.   NATURE BIOTECHNOLOGY

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

The experimental chemotherapeutic N 6 -furfuryladenosine (kinetin-riboside) induces rapid ATP depletion, genotoxic stress, and CDKN1A (p21) upregulation in human cancer cell lines

(2009) Christopher M. Cabello et al.   BIOCHEMICAL PHARMACOLOGY

Huntington's disease: the case for genetic modifiers

(2009) James F Gusella et al.   Genome Medicine