(Q38122628)

29 August 2017

title

Validating therapeutic targets through human genetics (English)

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29 August 2017

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3

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29 August 2017

Robert M Plenge

1

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29 August 2017

Edward M Scolnick

series ordinal

2

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29 August 2017

publication date

19 July 2013

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Nature Reviews Drug Discovery

29 August 2017

published in

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29 August 2017

volume

12

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29 August 2017

issue

8

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29 August 2017

page(s)

581-594

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Diagnosing the decline in pharmaceutical R&D efficiency

29 August 2017

cites work

1 reference

Can the pharmaceutical industry reduce attrition rates?

31 March 2020

1 reference

How to improve R&D productivity: the pharmaceutical industry's grand challenge

31 March 2020

1 reference

Trial watch: Phase II failures: 2008-2010.

31 March 2020

1 reference

Competitiveness in follow-on drug R&D: a race or imitation?

31 March 2020

1 reference

Assessing the translatability of drug projects: what needs to be scored to predict success?

31 March 2020

1 reference

Lovastatin and beyond: the history of the HMG-CoA reductase inhibitors

31 March 2020

1 reference

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.

31 March 2020

1 reference

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

31 March 2020

1 reference

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

31 March 2020

1 reference

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

31 March 2020

1 reference

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

31 March 2020

1 reference

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

31 March 2020

1 reference

Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.

31 March 2020

1 reference

Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype

31 March 2020

1 reference

Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised con

31 March 2020

1 reference

Effect of a monoclonal antibody to PCSK9 on LDL cholesterol

31 March 2020

1 reference

Cholesterol-lowering blockbuster candidates speed into Phase III trials

31 March 2020

1 reference

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

31 March 2020

1 reference

Will cholesteryl ester transfer protein inhibition succeed primarily by lowering low-density lipoprotein cholesterol? Insights from human genetics and clinical trials

31 March 2020

1 reference

Cholesteryl ester transfer protein inhibition to reduce cardiovascular risk: Where are we now?

31 March 2020

1 reference

Torcetrapib and carotid intima-media thickness in mixed dyslipidaemia (RADIANCE 2 study): a randomised, double-blind trial

31 March 2020

1 reference

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

31 March 2020

1 reference

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations

31 March 2020

1 reference

Identification of the cystic fibrosis gene: genetic analysis

31 March 2020

1 reference

An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

31 March 2020

1 reference

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

31 March 2020

1 reference

An SCN9A channelopathy causes congenital inability to experience pain

31 March 2020

1 reference

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

31 March 2020

1 reference

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

31 March 2020

1 reference

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

31 March 2020

1 reference

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

31 March 2020

1 reference

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders

31 March 2020

1 reference

ProTx-II, a selective inhibitor of NaV1.7 sodium channels, blocks action potential propagation in nociceptors.

31 March 2020

1 reference

Selective silencing of Na(V)1.7 decreases excitability and conduction in vagal sensory neurons

31 March 2020

1 reference

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

31 March 2020

1 reference

Tofacitinib or Adalimumab versus Placebo in Rheumatoid Arthritis

31 March 2020

1 reference

Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis

31 March 2020

1 reference

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

31 March 2020

1 reference

Progress and promise of genome-wide association studies for human complex trait genetics

31 March 2020

1 reference

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

31 March 2020

1 reference

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

31 March 2020

1 reference

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

31 March 2020

1 reference

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

31 March 2020

1 reference

Etiology of type 1 diabetes

31 March 2020

1 reference

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

31 March 2020

1 reference

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

31 March 2020

1 reference

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

31 March 2020

1 reference

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

31 March 2020

1 reference

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

31 March 2020

1 reference

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

31 March 2020

1 reference

Laminopathies and the long strange trip from basic cell biology to therapy

31 March 2020

1 reference

Lamin a truncation in Hutchinson-Gilford progeria.

31 March 2020

1 reference

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

31 March 2020

1 reference

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

31 March 2020

1 reference

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

31 March 2020

1 reference

31 March 2020

1 reference

Use of genome-wide association studies for drug repositioning

31 March 2020

1 reference

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

31 March 2020

1 reference

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

31 March 2020

1 reference

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

31 March 2020

1 reference

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

31 March 2020

1 reference

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

31 March 2020

1 reference

Complement factor H polymorphism in age-related macular degeneration

31 March 2020

1 reference

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

31 March 2020

1 reference

Variation in complement factor 3 is associated with risk of age-related macular degeneration

31 March 2020

1 reference

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

31 March 2020

1 reference

Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria

31 March 2020

1 reference

Therapeutic targeting of the complement system in age-related macular degeneration: a review.

31 March 2020

1 reference

Inhibiting Alternative Pathway Complement Activation by Targeting the Factor D Exosite

31 March 2020

1 reference

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

31 March 2020

1 reference

Lighting the fires within: the cell biology of autoinflammatory diseases

31 March 2020

1 reference

Chemical genetics and orphan genetic diseases.

31 March 2020

1 reference

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

31 March 2020

1 reference

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

31 March 2020

1 reference

New Therapeutic Approaches to Mendelian Disorders

31 March 2020

1 reference

Spinal muscular atrophy: mechanisms and therapeutic strategies

31 March 2020

1 reference

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

31 March 2020

1 reference

Identification and characterization of a spinal muscular atrophy-determining gene

31 March 2020

1 reference

Genome-wide association studies for common diseases and complex traits

31 March 2020

1 reference

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

31 March 2020

1 reference

Uncovering the roles of rare variants in common disease through whole-genome sequencing

31 March 2020

1 reference

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

31 March 2020

1 reference

A systematic survey of loss-of-function variants in human protein-coding genes

31 March 2020

1 reference

A method and server for predicting damaging missense mutations

31 March 2020

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

31 March 2020

1 reference

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

31 March 2020

1 reference

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population

31 March 2020

1 reference

What makes a good drug target?

31 March 2020

1 reference

Commentary: Mendelian Randomization, 18 years on.

31 March 2020

1 reference

Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology?

31 March 2020

1 reference

Common variants at 30 loci contribute to polygenic dyslipidemia

31 March 2020

1 reference

Phenotypic vs. target-based drug discovery for first-in-class medicines

31 March 2020

1 reference

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

31 March 2020

1 reference

Chromatin marks identify critical cell types for fine mapping complex trait variants

31 March 2020

1 reference

Network medicine: a network-based approach to human disease

31 March 2020

1 reference

A network view of disease and compound screening

31 March 2020

1 reference

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

31 March 2020

1 reference

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

31 March 2020

1 reference

A haplotype map of the human genome

31 March 2020

1 reference

Genetic mapping in human disease

31 March 2020

1 reference

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

31 March 2020

1 reference

Five years of GWAS discovery

31 March 2020

1 reference

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

31 March 2020

1 reference

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

31 March 2020

1 reference

Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets

31 March 2020

1 reference

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

31 March 2020

1 reference

Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway

31 March 2020

1 reference

Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia. A multicenter study. The Lovastatin Study Group II

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23868113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The discovery and early use of cortisone.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23868113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Drug treatment for spinal muscular atrophy type I

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23868113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRD4051

1 reference

29 August 2017

1 reference