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Huntington's disease: 3rd edition. Editors Gillian Bates, Peter S Harper, and Lesley Jones. Oxford: Oxford University Press. 2002. ISBN 0 19 851060 8 (Hbk)
2003
Journal of Medical Genetics
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The chapters that were particularly memorable were those dealing with the history of Huntington's disease (Harper), the cell biology of HD (Jones), a comparison of HD with other polyglutamine diseases ...
doi:10.1136/jmg.40.7.552
pmcid:PMC1735515
fatcat:4d5umgjktzdmxmnlisaqdd46ae
What is the Pathogenic CAG Expansion Length in Huntington's Disease?
2021
Journal of Huntington's Disease
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Huntington's disease (HD) (OMIM 143100) is caused by an expanded CAG repeat tract in the HTT gene. The inherited CAG length is known to expand further in somatic and germline cells in HD subjects. Age at onset of the disease is inversely correlated with the inherited CAG length, but is further modulated by a series of genetic modifiers which are most likely to act on the CAG repeat in HTT that permit it to further expand. Longer repeats are more prone to expansions, and this expansion is age
doi:10.3233/jhd-200445
pmid:33579866
pmcid:PMC7990448
fatcat:y7rqss6lbzeq7dletn2li63ysy
more »
... endent and tissue-specific. Given that the inherited tract expands through life and most subjects develop disease in mid-life, this implies that in cells that degenerate, the CAG length is likely to be longer than the inherited length. These findings suggest two thresholds— the inherited CAG length which permits further expansion, and the intracellular pathogenic threshold, above which cells become dysfunctional and die. This two-step mechanism has been previously proposed and modelled mathematically to give an intracellular pathogenic threshold at a tract length of 115 CAG (95% confidence intervals 70– 165 CAG). Empirically, the intracellular pathogenic threshold is difficult to determine. Clues from studies of people and models of HD, and from other diseases caused by expanded repeat tracts, place this threshold between 60– 100 CAG, most likely towards the upper part of that range. We assess this evidence and discuss how the intracellular pathogenic threshold in manifest disease might be better determined. Knowing the cellular pathogenic threshold would be informative for both understanding the mechanism in HD and deploying treatments.
Huntington's Disease Pathogenesis: Two Sequential Components
2021
Journal of Huntington's Disease
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Historically, Huntington's disease (HD; OMIM #143100) has played an important role in the enormous advances in human genetics seen over the past four decades. This familial neurodegenerative disorder involves variable onset followed by consistent worsening of characteristic abnormal movements along with cognitive decline and psychiatric disturbances. HD was the first autosomal disease for which the genetic defect was assigned to a position on the human chromosomes using only genetic linkage
doi:10.3233/jhd-200427
pmid:33579862
pmcid:PMC7990433
fatcat:m3rgayqdovc5jd67tpwmowgyjm
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... ysis with common DNA polymorphisms. This discovery set off a multitude of similar studies in other diseases, while the HD gene, later renamed HTT, and its vicinity in chromosome 4p16.3 then acted as a proving ground for development of technologies to clone and sequence genes based upon their genomic location, with the growing momentum of such advances fueling the Human Genome Project. The identification of the HD gene has not yet led to an effective treatment, but continued human genetic analysis of genotype-phenotype relationships in large HD subject populations, first at the HTT locus and subsequently genome-wide, has provided insights into pathogenesis that divide the course of the disease into two sequential, mechanistically distinct components.
The Korea Story
1953
International Affairs
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Caldwell in collaboration with Lesley Frost. New York, Henry Regnery, 1952. xii+-180 pp. Illus. Index. 83" 5%". $3.
Mr CALDWELL went to Chunchon, which is just below the 38th Parallel, in 1948. ...
JONES
IN THE LAND oF Mao TsE-TuNG. By Father Carlo Suigo. Trans. from the Italian by Muriel Currey and edited by Clifford Witting. London, Allen & Unwin, 1953. 312 pp. Illus. Map. 8? 5#”. 18s. ...
doi:10.2307/2604786
fatcat:2la6pgoyrjcnhiei5m2tqawuvm
Huntingtin localisation studies - a technical review
2011
PLOS Currents
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It is well recognised that there are pitfalls when defining the subcellular localisation of a protein with immunocytochemistry. Accurate protein localisation to particular cellular micro-architecture is crucial in defining its role within the cell. Huntingtin (HTT), the protein mutated in the neurodegenerative disorder Huntington's disease (HD) is a large protein of ill-defined function. Bearing little resemblance to other proteins, its function has been difficult to assign, therefore
doi:10.1371/currents.rrn1211
pmid:21339845
pmcid:PMC3037564
fatcat:bb5ifose4bev3hec4dfmvcr3e4
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... this protein with precision within the cell may provide further clues as to its normal and pathological function. Lack of consistency between methods employed in different studies has resulted in varying conclusions as to its subcellular localisation. This technical review investigates the effects that different immunocytological methods can have upon the apparent subcellular localisation of the huntingtin protein, and discusses the implications this may have. Abstract It is well recognised that there are pitfalls when defining the subcellular localisation of a protein with immunocytochemistry. Accurate protein localisation to particular cellular micro-architecture is crucial in defining its role within the cell. Huntingtin (HTT), the protein mutated in the neurodegenerative disorder Huntington's disease (HD) is a large protein of ill-defined function. Bearing little resemblance to other proteins, its function has been difficult to assign, therefore localising this protein with precision within the cell may provide further clues as to its normal and pathological function. Lack of consistency between methods employed in different studies has resulted in varying conclusions as to its subcellular localisation. This technical review investigates the effects that different immunocytological methods can have upon the apparent subcellular localisation of the huntingtin protein, and discusses the implications this may have. Abstract It is well recognised that there are pitfalls when defining the subcellular localisation of a protein with immunocytochemistry. Accurate protein localisation to particular cellular micro-architecture is crucial in defining its role within the cell. Huntingtin (HTT), the protein mutated in the neurodegenerative disorder Huntington's disease (HD) is a large protein of ill-defined function. Bearing little resemblance to other proteins, its function has been difficult to assign, therefore localising this protein with precision within the cell may provide further clues as to its normal and pathological function. Lack of consistency between methods employed in different studies has resulted in varying conclusions as to its subcellular localisation. This technical review investigates the effects that different immunocytological methods can have upon the apparent subcellular localisation of the huntingtin protein, and discusses the implications this may have.
Fuchsian Groups, Quasiconformal Groups, and Conical Limit Sets
[article]
1996
arXiv
pre-print
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Jones was partially supported by NSF grant #DMS-92-13595. Ward's research at MSRI was supported in part by NSF grant #DMS-90-22140. ...
Garnett, Gehring, and Jones [GGJ] , and independently Tukia [T3] , showed that results analogous to Hopf's on the measure of the conical limit set and the convergence of the Poincaré series at the exponent ...
arXiv:math/9604224v1
fatcat:f2u4cyoik5e2njeb5s3okyssvy
Kinase Signalling in Huntington's Disease
2014
Journal of Huntington's Disease
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Jones / Kinase Signalling in Huntington's Disease Fig. 8. Schematic displaying the interplay of mHTT with various kinase signalling pathways implicated in HD. ...
doi:10.3233/jhd-140106
fatcat:dk2jnky4pffdrgi4l4a2i454de
The human gut virome: a multifaceted majority
2015
Frontiers in Microbiology
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Citation: Ogilvie LA and Jones BV (2015) The human gut virome: a multifaceted majority. Front. Microbiol. 6:918. ...
, 2007; Jones, 2010; Ogilvie et al., 2012b; Ogilvie and Jones, 2013) . ...
and Marchesi, 2007; Jones, 2010; Ogilvie and Jones, 2013) , phages likely play a key role in this network through the process of transduction (generalized or specialized); a process in which DNA is transferred ...
doi:10.3389/fmicb.2015.00918
pmid:26441861
pmcid:PMC4566309
fatcat:6qjvj5kiyzdcdczz2bmap22tky
Race and Schooling: Theories and Ethnographies
2005
The Urban review
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Lesley Bartlett would like to thank her colleagues in the Department of International and Transcultural Studies at Teachers College for their intellectual support. ...
doi:10.1007/s11256-005-0021-3
fatcat:2oqx635bqnbybebelw3bljvjpq
Genomic profiling and diagnostic biomarkers in Alzheimer's disease
2017
Lancet Neurology
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Genomic profiling and biomarkers in Alzheimer's disease: use and limitations Valentina Escott-Price and Lesley Jones* MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff CF24 ...
doi:10.1016/s1474-4422(17)30202-8
pmid:28721917
fatcat:kw2edzcx7jfmziebqfmst4go6e
Methods for Assessing DNA Repair and Repeat Expansion in Huntington's Disease
[chapter]
2018
Msphere
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Huntington's disease (HD) is caused by a CAG repeat expansion in the HTT gene. Repeat length can change over time, both in individual cells and between generations, and longer repeats may drive pathology. Cellular DNA repair systems have long been implicated in CAG repeat instability but recent genetic evidence from humans linking DNA repair variants to HD onset and progression has reignited interest in this area. The DNA damage response plays an essential role in maintaining genome stability,
doi:10.1007/978-1-4939-7825-0_22
pmid:29856032
fatcat:uesz7shdu5gmrot3gb7636c3qy
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... ut may also licence repeat expansions in the context of HD. In this chapter we summarise the methods developed to assay CAG repeat expansion/contraction in vitro and in cells, and review the DNA repair genes tested in mouse models of HD. While none of these systems is currently ideal, new technologies, such as long-read DNA sequencing, should improve the sensitivity of assays to assess the effects of DNA repair pathways in HD. Improved assays will be essential precursors to high throughput testing of small molecules that can alter specific steps in DNA repair pathways and perhaps ameliorate expansion or enhance contraction of the HTT CAG repeat.
Inequalities in general practice website provision
2011
British Journal of General Practice
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cotton buds inside ears seems to be common. Our survey was carried out in the south east of England, as a result there may be a population bias. Further research into both adult and paediatric populations country-wide is warranted. One previous study did attempt to evaluate cotton-bud use and awareness of complications. 3 As responders were ENT-clinic attendees, the study was limited by a biased sample. However, similar levels of cotton-bud use and awareness of complications were found.
doi:10.3399/bjgp11x606555
pmid:22167899
pmcid:PMC3207073
fatcat:byvxjuhoefhg3b54brh3rtwke4
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... s of cotton-bud related complications is an important public health issue. We recommend that public awareness of cotton-bud related complications and the notion of the 'self-cleaning' ear needs to be raised. A small proportion of patients do suffer from regular ear wax impaction. Safer methods of aural toileting that include syringing and microsuction may also need promoting. With the above information, the public can make an informed choice of whether or not to use cotton buds. One method of promoting awareness may be to distribute leaflets in primary care centres. This may reduce cotton-bud related complications in the community. 2. Steele BD, Brennan PO. A prospective survey of patients with presumed accidental ear injury presenting to a paediatric accident and emergency department. Emerg Med J 2002: 19(3): 226-228. 3. Hobson JC, Lavy JA. Use and abuse of cotton buds. J R Soc Med 2005; 98(8): 360-361.
Conservation of Regional Gene Expression in Mouse and Human Brain
2007
PLoS Genetics
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Jones, unpublished data). Examining orthologous mouse and human genes, we find that conservation of amino acid and nucleotide sequence is correlated with conservation of regional expression. ...
doi:10.1371/journal.pgen.0030059
pmid:17447843
pmcid:PMC1853119
fatcat:gsi7237vefgfpkjxc4o5z3ttse
Violet Lesley Lutwyche and Vivien Ursula Lutwyche Wilfrid Seymour Coltart K R "Claude" Dempster Marcia Hall Harold Witcomb Everley Jones Margaret Elizabeth Lace (nee Morgan) Eric Taylor Murray Alan George Sherman John Jeffrey Shipman Allan Beaumont Swarbreck
2001
BMJ (Clinical Research Edition)
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[J A Seymour− Jones] Margaret Elizabeth Lace (née Morgan) Former consultant Family Planning Association (b Dowlais, South Wales, 1912; q Bristol 1938), d 1 June 2001. ...
doi:10.1136/bmj.323.7307.286
pmcid:PMC1120897
fatcat:7tknkedzezgvzi7cpok77l655u
Investigating the causes of behaviours that challenge in people with dementia
2010
Nursing Older People
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Investigating the causes of behaviours that challenge in people with dementia Using a case study, John Keady and Lesley Jones show how a person-centred approach can reveal the individual behind the behaviour ...
Find out more John Keady, supported by the contribution of Lesley Jones, will give a presentation on aggression and challenging behaviour on the ward at the British Geriatrics Society's multidisciplinary ...
doi:10.7748/nop2010.11.22.9.25.c8061
pmid:21140883
fatcat:axyvfi5stzggxm7owya57gkzaq
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