(Q36420699)

14 August 2017

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title

Human monogenic disorders - a source of novel drug targets (English)

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14 August 2017

2

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14 August 2017

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Guy A Rouleau

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Ryan R Brinkman

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Ryan R Brinkman

series ordinal

1

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author name string

Andrew C Orr

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4

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PubMed ID

16534513

14 August 2017

Mark E Samuels

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5

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14 August 2017

1 April 2006

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14 August 2017

Nature Reviews Genetics

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14 August 2017

7

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14 August 2017

4

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14 August 2017

249-260

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https://scigraph.springernature.com/pub.10.1038/nrg1828

14 August 2017

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A gene-driven ENU-based approach to generating an allelic series in any gene

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Implementing large-scale ENU mutagenesis screens in North America

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Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders

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Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells

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The International HapMap Project

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Using haplotype blocks to map human complex trait loci

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The human phenome project

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Genome-wide association studies for common diseases and complex traits

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From syndrome families to functional genomics

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How clinicians add to knowledge of development

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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

31 March 2020

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Applications of whole-genome high-density SNP genotyping

31 March 2020

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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

31 March 2020

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Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies

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Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility

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Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort

31 March 2020

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Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer

31 March 2020

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Germline mutations in the ribonuclease L gene in families showing linkage with HPC1

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A candidate prostate cancer susceptibility gene at chromosome 17p

31 March 2020

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Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer

31 March 2020

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Linkage of osteoporosis to chromosome 20p12 and association to BMP2

31 March 2020

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Neuregulin 1 and susceptibility to schizophrenia

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Association between the neuregulin 1 gene and schizophrenia: a systematic review

31 March 2020

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The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.

31 March 2020

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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

31 March 2020

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Complement factor H polymorphism in age-related macular degeneration

31 March 2020

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Complement factor H polymorphism and age-related macular degeneration

31 March 2020

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Complement factor H variant increases the risk of age-related macular degeneration

31 March 2020

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Has the yo-yo stopped? An assessment of human protein-coding gene number

31 March 2020

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Knockouts model the 100 best-selling drugs--will they model the next 100?

31 March 2020

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Persistent hyperinsulinemic hypoglycemia of infancy

31 March 2020

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Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

31 March 2020

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Influence of pravastatin, a specific inhibitor of HMG-CoA reductase, on hepatic metabolism of cholesterol.

31 March 2020

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Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

31 March 2020

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Enoxaparin, a low molecular weight heparin, inhibits platelet-dependent prothrombinase assembly and activity by factor-Xa neutralization

31 March 2020

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The P2Y12 receptor as a therapeutic target in cardiovascular disease

31 March 2020

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Metabolic and additional vascular effects of thiazolidinediones.

31 March 2020

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Initial studies in humans with the novel gastrointestinal lipase inhibitor Ro 18–0647 (tetrahydrolipstatin)

31 March 2020

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Cellular electrophysiology of amlodipine: probing the cardiac L-type calcium channel

31 March 2020

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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

31 March 2020

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A review of CETP and its relation to atherosclerosis

31 March 2020

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Increasing high-density lipoprotein cholesterol in dyslipidemia by cholesteryl ester transfer protein inhibition: an update for clinicians

31 March 2020

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Pros and cons of inhibiting cholesteryl ester transfer protein

31 March 2020

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Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol

31 March 2020

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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

31 March 2020

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

31 March 2020

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The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway

31 March 2020

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Increased ABCA1 activity protects against atherosclerosis.

31 March 2020

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Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain

31 March 2020

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

31 March 2020

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

31 March 2020

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Maximizing serendipity: strategies for identifying ligands for orphan G-protein-coupled receptors

31 March 2020

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The repertoire of G-protein-coupled receptors in fully sequenced genomes

31 March 2020

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Progress in the development of melanocortin receptor selective ligands

31 March 2020

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Recent progress in discovery of small-molecule CCR5 chemokine receptor ligands as HIV-1 inhibitors

31 March 2020

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Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

31 March 2020

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High genomic deleterious mutation rates in hominids

31 March 2020

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Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village

31 March 2020

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Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

31 March 2020

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Human genetics: lessons from Quebec populations

31 March 2020

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The Newfoundland population: a unique resource for genetic investigation of complex diseases

31 March 2020

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Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

31 March 2020

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Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)

31 March 2020

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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

31 March 2020

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Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

31 March 2020

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Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

31 March 2020

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Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

31 March 2020

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A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

31 March 2020

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Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

31 March 2020

1 reference

Do essential genes evolve slowly?

31 March 2020

1 reference

Glycoprotein IIb/IIIa integrin blockade

31 March 2020

1 reference

New drug targets for genomic cancer therapy: successes, limitations, opportunities and future challenges.

31 March 2020

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Modulation of protein-protein interactions with small organic molecules

31 March 2020

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Small-molecule inhibitors of protein-protein interactions: progressing towards the dream

31 March 2020

1 reference

Emerging classes of protein-protein interaction inhibitors and new tools for their development

31 March 2020

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Inhibiting protein-protein interactions using designed molecules

31 March 2020

1 reference

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

31 March 2020

1 reference

Use of population isolates for mapping complex traits

31 March 2020

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Accurate multiplex polony sequencing of an evolved bacterial genome

31 March 2020

1 reference

Pharmacogenetics goes genomic

31 March 2020

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31 March 2020

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The promise of genomics to identify novel therapeutic targets

31 March 2020

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FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1828

1 reference

14 August 2017

1 reference

PubMed ID

16534513