Unexplored therapeutic opportunities in the human genome

TI Oprea, CG Bologa, S Brunak, A Campbell… - Nature reviews Drug …, 2018 - nature.com
A large proportion of biomedical research and the development of therapeutics is focused
on a small fraction of the human genome. In a strategic effort to map the knowledge gaps …

The synaptic vesicle glycoprotein 2: structure, function, and disease relevance

KA Stout, AR Dunn, C Hoffman… - ACS Chemical …, 2019 - ACS Publications
The synaptic vesicle glycoprotein 2 (SV2) family is comprised of three paralogues: SV2A,
SV2B, and SV2C. In vertebrates, SV2s are 12-transmembrane proteins present on every …

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

D Szklarczyk, JH Morris, H Cook, M Kuhn… - Nucleic acids …, 2016 - academic.oup.com
A system-wide understanding of cellular function requires knowledge of all functional
interactions between the expressed proteins. The STRING database aims to collect and …

The GeneCards suite: from gene data mining to disease genome sequence analyses

G Stelzer, N Rosen, I Plaschkes… - Current protocols in …, 2016 - Wiley Online Library
GeneCards, the human gene compendium, enables researchers to effectively navigate and
inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and …

GeneAnalytics: an integrative gene set analysis tool for next generation sequencing, RNAseq and microarray data

S Ben-Ari Fuchs, I Lieder, G Stelzer… - Omics: a journal of …, 2016 - liebertpub.com
Postgenomics data are produced in large volumes by life sciences and clinical applications
of novel omics diagnostics and therapeutics for precision medicine. To move from “data-to …

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

A Gialluisi, TFM Andlauer, N Mirza-Schreiber… - Translational …, 2019 - nature.com
Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high
impact on school and psychosocial development and high comorbidity with conditions like …

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

D Halim, MP Wilson, D Oliver… - Proceedings of the …, 2017 - National Acad Sciences
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral
myopathy characterized by severe dilation of the urinary bladder and defective intestinal …

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

JC Klein, A Keith, SJ Rice, C Shepherd… - Nature …, 2019 - nature.com
To date, genome-wide association studies have implicated at least 35 loci in osteoarthritis
but, due to linkage disequilibrium, the specific variants underlying these associations and …

Myosin-I molecular motors at a glance

BB McIntosh, EM Ostap - Journal of cell science, 2016 - journals.biologists.com
Myosin-I molecular motors are proposed to play various cellular roles related to membrane
dynamics and trafficking. In this Cell Science at a Glance article and the accompanying …

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases

S Chu, X Xie, C Payan, U Stochaj - Molecular Neurodegeneration, 2023 - Springer
The AAA+ ATPase valosin containing protein (VCP) is essential for cell and organ
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …