Validating therapeutic targets through human genetics (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

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

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

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Effect of a monoclonal antibody to PCSK9 on LDL cholesterol

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Cholesterol-lowering blockbuster candidates speed into Phase III trials

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

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An SCN9A channelopathy causes congenital inability to experience pain

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

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

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

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Selective silencing of NaV1.7 decreases excitability and conduction in vagal sensory neurons

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

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Tofacitinib or Adalimumab versus Placebo in Rheumatoid Arthritis

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Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis

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

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

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

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

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

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

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Etiology of type 1 diabetes

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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

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

31 March 2020

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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

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

31 March 2020

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

31 March 2020

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

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

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Lamin a truncation in Hutchinson-Gilford progeria.

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

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Use of genome-wide association studies for drug repositioning

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

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

31 March 2020

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

31 March 2020

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

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

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Complement factor H polymorphism in age-related macular degeneration

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

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

31 March 2020

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

31 March 2020

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

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A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

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Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

31 March 2020

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Spinal muscular atrophy: mechanisms and therapeutic strategies

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Identification and characterization of a spinal muscular atrophy-determining gene

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31 March 2020

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Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

31 March 2020

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

31 March 2020

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31 March 2020

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Five years of GWAS discovery

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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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