Update of P2X receptor properties and their pharmacology: IUPHAR Review 30

P Illes, CE Müller, KA Jacobson… - British Journal of …, 2021 - Wiley Online Library
The known seven mammalian receptor subunits (P2X1–7) form cationic channels gated by
ATP. Three subunits compose a receptor channel. Each subunit is a polypeptide consisting …

From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo

D Andergassen, JL Rinn - Nature Reviews Genetics, 2022 - nature.com
Genome-wide sequencing has led to the discovery of thousands of long non-coding RNA
(lncRNA) loci in the human genome, but evidence of functional significance has remained …

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

P Akbari, A Gilani, O Sosina, JA Kosmicki, L Khrimian… - Science, 2021 - science.org
INTRODUCTION Obesity accounts for a substantial and growing burden of disease globally.
Body adiposity is highly heritable, and human genetic studies can lead to biological and …

High-throughput discovery of novel developmental phenotypes

ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong… - Nature, 2016 - nature.com
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …

[HTML][HTML] Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance

RC Adam, IJ Mintah, CA Alexa-Braun… - Journal of lipid …, 2020 - Elsevier
Angiopoietin-like protein (ANGPTL) 3 regulates plasma lipids by inhibiting LPL and
endothelial lipase (EL). ANGPTL3 inactivation lowers LDL-C independently of the classical …

[HTML][HTML] Early cellular mechanisms of type I interferon-driven susceptibility to tuberculosis

DI Kotov, OV Lee, SA Fattinger, CA Langner, JV Guillen… - Cell, 2023 - cell.com
Summary Mycobacterium tuberculosis (Mtb) causes 1.6 million deaths annually. Active
tuberculosis correlates with a neutrophil-driven type I interferon (IFN) signature, but the …

Anti-SIRPα antibody immunotherapy enhances neutrophil and macrophage antitumor activity

NG Ring, D Herndler-Brandstetter, K Weiskopf… - Proceedings of the …, 2017 - pnas.org
Cancer immunotherapy has emerged as a promising therapeutic intervention. However,
complete and durable responses are only seen in a fraction of patients who have cancer. A …

A conditional knockout resource for the genome-wide study of mouse gene function

WC Skarnes, B Rosen, AP West, M Koutsourakis… - Nature, 2011 - nature.com
Gene targeting in embryonic stem cells has become the principal technology for
manipulation of the mouse genome, offering unrivalled accuracy in allele design and access …

Multiple knockout mouse models reveal lincRNAs are required for life and brain development

M Sauvageau, LA Goff, S Lodato, B Bonev, AF Groff… - elife, 2013 - elifesciences.org
Many studies are uncovering functional roles for long noncoding RNAs (lncRNAs), yet few
have been tested for in vivo relevance through genetic ablation in animal models. To …

ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

SJ Hatsell, V Idone, DMA Wolken, L Huang… - Science translational …, 2015 - science.org
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by
episodically exuberant heterotopic ossification (HO), whereby skeletal muscle is abnormally …