CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

Recent progress and considerations for AAV gene therapies targeting the central nervous system

(2018) Erik Allen Lykken et al.   Journal of Neurodevelopmental Disorders

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity

(2018) Jacqueline E. Siljee et al.   NATURE GENETICS

Discovery of stimulation-responsive immune enhancers with CRISPR activation

(2017) Dimitre R. Simeonov et al.   NATURE

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

(2017) Tinh-Hai Collet et al.   Molecular Metabolism

Gene therapy: Industrial strength

(2016) Eric Bender   NATURE

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

(2016) Monkol Lek et al.   NATURE

Comparison of Cas9 activators in multiple species

(2016) Alejandro Chavez et al.   NATURE METHODS

Melanocortin-4 receptor–regulated energy homeostasis

(2016) Michael J Krashes et al.   NATURE NEUROSCIENCE

Nucleosomes impede Cas9 access to DNA in vivo and in vitro

(2016) Max A Horlbeck et al.   eLife

Acute off-target effects of neural circuit manipulations

(2015) Timothy M. Otchy et al.   NATURE

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Genome-scale transcriptional activation by an engineered CRISPR-Cas9 complex

(2015) Silvana Konermann et al.   NATURE

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

(2015) Isaac B Hilton et al.   NATURE BIOTECHNOLOGY

Highly efficient Cas9-mediated transcriptional programming

(2015) Alejandro Chavez et al.   NATURE METHODS

Cas9 gRNA engineering for genome editing, activation and repression

(2015) Samira Kiani et al.   NATURE METHODS

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

(2015) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases

(2014) S. Bae et al.   BIOINFORMATICS

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping

(2014) Wulan Deng et al.   CELL

Engineering adeno-associated viruses for clinical gene therapy

(2014) Melissa A. Kotterman et al.   NATURE REVIEWS GENETICS

AAV-Mediated Gene Therapy for Research and Therapeutic Purposes

(2014) R. Jude Samulski et al.   Annual Review of Virology

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

Functional characterization of SIM1-associated enhancers

(2013) Mee J. Kim et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features

(2013) Amélie Bonnefond et al.   JOURNAL OF CLINICAL INVESTIGATION

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

(2013) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

CRISPR RNA–guided activation of endogenous human genes

(2013) Morgan L Maeder et al.   NATURE METHODS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The Role of the Leptin-Melanocortin Signalling Pathway in the Control of Food Intake

(2012) Sigri Beckers et al.   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Site-specific integrase-mediated transgenesis in mice via pronuclear injection

(2011) B. Tasic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Postnatal Sim1 Deficiency Causes Hyperphagic Obesity and Reduced Mc4r and Oxytocin Expression

(2010) K. P. Tolson et al.   JOURNAL OF NEUROSCIENCE

Genetic Mosaic Dissection of Lis1 and Ndel1 in Neuronal Migration

(2010) Simon Hippenmeyer et al.   NEURON

Therapeutic developments in spinal muscular atrophy

(2010) Douglas M. Sproule et al.   Therapeutic Advances in Neurological Disorders

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Oxytocin Deficiency Mediates Hyperphagic Obesity ofSim1Haploinsufficient Mice

(2008) Bassil M. Kublaoui et al.   MOLECULAR ENDOCRINOLOGY

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY

Model-based Analysis of ChIP-Seq (MACS)

(2008) Yong Zhang et al.   GENOME BIOLOGY