No post-genetics era in human disease research (Q34514433)

2 August 2017

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title

No post-genetics era in human disease research (English)

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2 August 2017

1

James Gusella

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2 August 2017

2

Marcy MacDonald

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2 August 2017

1 January 2002

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2 August 2017

Nature Reviews Genetics

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2 August 2017

3

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2 August 2017

1

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2 August 2017

72-79

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https://scigraph.springernature.com/pub.10.1038/nrg706

2 August 2017

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cites work

Huntington's disease. Pathogenesis and management

1 reference

31 March 2020

1 reference

Colitis in transgenic and knockout animals as models of human inflammatory bowel disease

31 March 2020

1 reference

Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?

31 March 2020

1 reference

Replicating Huntington's disease phenotype in experimental animals

31 March 2020

1 reference

The current state of research with peripheral tissues in Huntington disease

31 March 2020

1 reference

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

31 March 2020

1 reference

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

31 March 2020

1 reference

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

31 March 2020

1 reference

Transgenic mouse models of Alzheimer's disease

31 March 2020

1 reference

The Alzheimer's A beta peptide induces neurodegeneration and apoptotic cell death in transgenic mice

31 March 2020

1 reference

Accumulation of murine amyloidbeta42 in a gene-dosage-dependent manner in PS1 'knock-in' mice.

31 March 2020

1 reference

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

31 March 2020

1 reference

Presenilin-1 P264L knock-in mutation: differential effects on abeta production, amyloid deposition, and neuronal vulnerability.

31 March 2020

1 reference

Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain

31 March 2020

1 reference

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

31 March 2020

1 reference

Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture.

31 March 2020

1 reference

Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment

31 March 2020

1 reference

Cellular defects and altered gene expression in PC12 cells stably expressing mutant huntingtin

31 March 2020

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Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

31 March 2020

1 reference

A cellular model that recapitulates major pathogenic steps of Huntington's disease

31 March 2020

1 reference

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

31 March 2020

1 reference

Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons.

31 March 2020

1 reference

Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron

31 March 2020

1 reference

Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition.

31 March 2020

1 reference

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

31 March 2020

1 reference

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

31 March 2020

1 reference

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

31 March 2020

1 reference

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

31 March 2020

1 reference

A molecular approach to dominance in hypophosphatasia

31 March 2020

1 reference

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations

31 March 2020

1 reference

Defects in neurofibromatosis 2 protein function can arise at multiple levels.

31 March 2020

1 reference

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

31 March 2020

1 reference

Formation of polyglutamine inclusions in non-CNS tissue

31 March 2020

1 reference

Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

31 March 2020

1 reference

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

31 March 2020

1 reference

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins

31 March 2020

1 reference

Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology

31 March 2020

1 reference

A molecular investigation of true dominance in Huntington's disease

31 March 2020

1 reference

Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy

31 March 2020

1 reference

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

31 March 2020

1 reference

A low expressor line of transgenic mice carrying a mutant human Cu,Zn superoxide dismutase (SOD1) gene develops pathological changes that most closely resemble those in human amyotrophic lateral sclerosis

31 March 2020

1 reference

Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice

31 March 2020

1 reference

Force and stiffness of old dystrophic (mdx) mouse skeletal muscles

31 March 2020

1 reference

Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice.

31 March 2020

1 reference

Neurological abnormalities in a knock-in mouse model of Huntington's disease

31 March 2020

1 reference

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

31 March 2020

1 reference

Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity

31 March 2020

1 reference

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice

31 March 2020

1 reference

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

31 March 2020

1 reference

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

31 March 2020

1 reference

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

31 March 2020

1 reference

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

31 March 2020

1 reference

Trinucleotide repeat length and progression of illness in Huntington's disease

31 March 2020

1 reference

Neuropathological classification of Huntington's disease

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRG706

1 reference

PubMed ID

11823793

Dimensions Publication ID

2 August 2017

1028306721

0 references

Fatcat ID

release_omdlwssqqvbwjgmof4vtw65ysi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/omdlwssqqvbwjgmof4vtw65ysi

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11823793

1 reference

PubMed ID

11823793