History of genetic disease: the molecular genetics of Huntington disease - a history (Q45298333)

11 December 2017

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title

History of genetic disease: the molecular genetics of Huntington disease - a history (English)

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11 December 2017

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11 December 2017

1 October 2005

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11 December 2017

Nature Reviews Genetics

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6

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10

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11 December 2017

766-773

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https://scigraph.springernature.com/pub.10.1038/nrg1686

11 December 2017

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cites work

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

1 reference

Trinucleotide repeat length instability and age of onset in Huntington's disease

21 January 2018

1 reference

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

21 January 2018

1 reference

Genetic linkage studies in Huntington disease

21 January 2018

1 reference

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

21 January 2018

1 reference

Homozygotes for Huntington's disease

21 January 2018

1 reference

A polymorphic DNA marker genetically linked to Huntington's disease

21 January 2018

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

21 January 2018

1 reference

Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere

21 January 2018

1 reference

Huntington disease: no evidence for locus heterogeneity

21 January 2018

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Recombination events suggest potential sites for the Huntington's disease gene

21 January 2018

1 reference

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

21 January 2018

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

21 January 2018

1 reference

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

21 January 2018

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

21 January 2018

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Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

21 January 2018

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

21 January 2018

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

21 January 2018

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De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

21 January 2018

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Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

21 January 2018

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Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

21 January 2018

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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

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Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

21 January 2018

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Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

21 January 2018

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Huntington's disease gene (IT15) is widely expressed in human and rat tissues

21 January 2018

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Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

21 January 2018

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Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies

21 January 2018

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Inactivation of the mouse Huntington's disease gene homolog Hdh

21 January 2018

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Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

21 January 2018

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Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

21 January 2018

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HEAT repeats in the Huntington's disease protein

21 January 2018

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The hunt for huntingtin function: interaction partners tell many different stories

21 January 2018

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A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease

21 January 2018

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Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

21 January 2018

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

21 January 2018

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Huntingtin aggregation and toxicity in Huntington's disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene

21 January 2018

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The use of transgenic and knock-in mice to study Huntington's disease.

21 January 2018

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Transgenic rat model of Huntington's disease

21 January 2018

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The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient beta-cell mass and exocytosis

21 January 2018

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Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease

21 January 2018

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Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins

21 January 2018

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Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells

21 January 2018

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A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila

21 January 2018

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

21 January 2018

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Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans

21 January 2018

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Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death

21 January 2018

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

21 January 2018

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Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila

21 January 2018

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Genetic suppression of polyglutamine toxicity in Drosophila

21 January 2018

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The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans

21 January 2018

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Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila.

21 January 2018

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Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils

21 January 2018

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Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein

21 January 2018

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A genomic screen in yeast implicates kynurenine 3-monooxygenase as a therapeutic target for Huntington disease

21 January 2018

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Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation

21 January 2018

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Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila

21 January 2018

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Uptake of presymptomatic predictive testing for Huntington's disease

21 January 2018

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Problems in genetic prediction for Huntington's disease

21 January 2018

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Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk

21 January 2018

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Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease

21 January 2018

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Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk

21 January 2018

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Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study.

21 January 2018

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Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

21 January 2018

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Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

21 January 2018

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The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

21 January 2018

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United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease

21 January 2018

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Prenatal testing for Huntington's disease: experience within the UK 1994-1998.

21 January 2018

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New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

21 January 2018

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RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

21 January 2018

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Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease

21 January 2018

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Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease

21 January 2018

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Identification of combinatorial drug regimens for treatment of Huntington's disease using Drosophila.

21 January 2018

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Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assay

21 January 2018

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A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo

21 January 2018

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Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation

21 January 2018

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A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene

21 January 2018

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Isolation and field-inversion gel electrophoresis analysis of DNA markers located close to the Huntington disease gene.

21 January 2018

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Chromosome jumping from D4S10 (G8) toward the Huntington disease gene

21 January 2018

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Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

21 January 2018

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Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene

21 January 2018

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Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors

21 January 2018

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Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

21 January 2018

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A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

21 January 2018

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Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

21 January 2018

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21 January 2018

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Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

21 January 2018

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Expression of normal and mutant huntingtin in the developing brain

31 March 2020

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Gene expression in Huntington's disease skeletal muscle: a potential biomarker

31 March 2020

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International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease

31 March 2020

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Histone Deacetylase Inhibition by Sodium Butyrate Chemotherapy Ameliorates the Neurodegenerative Phenotype in Huntington's Disease Mice

31 March 2020

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A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease

31 March 2020

1 reference

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7 January 2021

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Identifiers

DOI

10.1038/NRG1686

1 reference

PubMed ID

16136077

Dimensions Publication ID

11 December 2017

0 references

1 reference

PubMed ID

16136077