Literature DB >> 20004772

Haplotype background, repeat length evolution, and Huntington's disease.

Daniel Falush.   

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Year:  2009        PMID： 20004772      PMCID： PMC2790581          DOI： 10.1016/j.ajhg.2009.11.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

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

Authors:  D Falush; E W Almqvist; R R Brinkmann; Y Iwasa; M R Hayden
Journal:  Am J Hum Genet       Date:  2001-02       Impact factor: 11.025

2.  Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

Authors:  Irene Paradisi; Alba Hernández; Sergio Arias
Journal:  J Hum Genet       Date:  2007-12-22       Impact factor: 3.172

3.  Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

Authors:  D C Rubinsztein; W Amos; J Leggo; S Goodburn; R S Ramesar; J Old; R Bontrop; R McMahon; D E Barton; M A Ferguson-Smith
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

4.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Authors:  Simon C Warby; Alexandre Montpetit; Anna R Hayden; Jeffrey B Carroll; Stefanie L Butland; Henk Visscher; Jennifer A Collins; Alicia Semaka; Thomas J Hudson; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2009-02-26       Impact factor: 11.025

5.  CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Authors:  Randell T Libby; Katharine A Hagerman; Victor V Pineda; Rachel Lau; Diane H Cho; Sandy L Baccam; Michelle M Axford; John D Cleary; James M Moore; Bryce L Sopher; Stephen J Tapscott; Galina N Filippova; Christopher E Pearson; Albert R La Spada
Journal:  PLoS Genet       Date:  2008-11-14       Impact factor: 5.917
  5 in total
  8 in total

Review 1.  Huntington's disease: progress toward effective disease-modifying treatments and a cure.

Authors:  Carl D Johnson; Beverly L Davidson
Journal:  Hum Mol Genet       Date:  2010-04-26       Impact factor: 6.150

2.  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.

Authors:  Simon C Warby; Henk Visscher; Jennifer A Collins; Crystal N Doty; Catherine Carter; Stefanie L Butland; Anna R Hayden; Ichiro Kanazawa; Colin J Ross; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

3.  Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Authors:  Fiona K Baine; Chris Kay; Maria E Ketelaar; Jennifer A Collins; Alicia Semaka; Crystal N Doty; Amanda Krause; L Jacquie Greenberg; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2013-03-06       Impact factor: 4.246

4.  ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.

Authors:  Diego Véliz-Otani; Miguel Inca-Martinez; Giovana B Bampi; Olimpio Ortega; Laura B Jardim; Maria Luiza Saraiva-Pereira; Pilar Mazzetti; Mario Cornejo-Olivas
Journal:  Cerebellum       Date:  2019-10       Impact factor: 3.847

5.  Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Authors:  Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Jong-Min Lee; Martin Gögele; Yuri D'Elia; Irene Pichler; Jorge Sequeiros; Peter P Pramstaller; James F Gusella; Marcy E MacDonald; Isabel Alonso
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2015-02-05       Impact factor: 3.568

6.  Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease.

Authors:  A J Morton; E A Skillings; N I Wood; Z Zheng
Journal:  Sci Rep       Date:  2019-01-10       Impact factor: 4.379

Review 7.  Distribution of the HTT Gene A1 and A2 Haplotypes Worldwide: A Systematic Review.

Authors:  Thays Andrade Apolinário; Dionatan Costa Rodrigues; Mayra Braga Lemos; Carmen Lúcia Antão Paiva; Luciana Andrade Agostinho
Journal:  Clin Med Res       Date:  2020-09-02

8.  Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease-affected families.

Authors:  Thays A Apolinário; Iane Dos Santos da Silva; Luciana de Andrade Agostinho; Carmen L A Paiva
Journal:  Mol Genet Genomic Med       Date:  2020-02-17       Impact factor: 2.183
  8 in total

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