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Update of P2X receptor properties and their pharmacology: IUPHAR Review 30
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 …
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
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 …
(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
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 …
Body adiposity is highly heritable, and human genetic studies can lead to biological and …
High-throughput discovery of novel developmental phenotypes
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 …
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 …
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
Summary Mycobacterium tuberculosis (Mtb) causes 1.6 million deaths annually. Active
tuberculosis correlates with a neutrophil-driven type I interferon (IFN) signature, but the …
tuberculosis correlates with a neutrophil-driven type I interferon (IFN) signature, but the …
Anti-SIRPα antibody immunotherapy enhances neutrophil and macrophage antitumor activity
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 …
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 …
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
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 …
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 …
episodically exuberant heterotopic ossification (HO), whereby skeletal muscle is abnormally …