نتایج جستجو برای: trinucleotide

تعداد نتایج: 1983  

2017
William Sproviero Aleksey Shatunov Daniel Stahl Maryam Shoai Wouter van Rheenen Ashley R. Jones Safa Al-Sarraj Peter M. Andersen Nancy M. Bonini Francesca L. Conforti Philip Van Damme Hussein Daoud Maria Del Mar Amador Isabella Fogh Monica Forzan Ben Gaastra Cinzia Gellera Aaron D. Gitler John Hardy Pietro Fratta Vincenzo La Bella Isabelle Le Ber Tim Van Langenhove Serena Lattante Yi-Chung Lee Andrea Malaspina Vincent Meininger Stéphanie Millecamps Richard Orrell Rosa Rademakers Wim Robberecht Guy Rouleau Owen A. Ross Francois Salachas Katie Sidle Bradley N. Smith Bing-Wen Soong Gianni Sorarù Giovanni Stevanin Edor Kabashi Claire Troakes Christine van Broeckhoven Jan H. Veldink Leonard H. van den Berg Christopher E. Shaw John F. Powell Ammar Al-Chalabi

We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that invest...

Journal: :Theor. Comput. Sci. 2008
Christian J. Michel Giuseppe Pirillo Mario A. Pirillo

The comma-free codes and circular codes are two important classes of codes in code theory and in genetics. Fifty years ago before the discovery of the genetic code, a trinucleotide (triletter) comma-free code was proposed for associating the codons of genes with the amino acids of proteins. More recently, in the last ten years, trinucleotide circular codes have been identified statistically in ...

Journal: :Computational biology and chemistry 2007
Christian J. Michel

We develop here an analytical evolution model based on a trinucleotide mutation matrix 64x64 with nine substitution parameters associated with the three types of substitutions in the three trinucleotide sites and with non-zero elements on its main diagonal. It generalizes the previous models based on the nucleotide mutation matrices 4x4 and the trinucleotide mutation matrices 64x64 with zero el...

Journal: :Human molecular genetics 1997
C E Pearson A Ewel S Acharya R A Fishel R R Sinden

The expansion of trinucleotide repeat sequences is associated with several neurodegenerative diseases. The mechanism of this expansion is unknown but may involve slipped-strand structures where adjacent rather than perfect complementary sequences of a trinucleotide repeat become paired. Here, we have studied the interaction of the human mismatch repair protein MSH2 with slipped-strand structure...

Journal: :Archives of ophthalmology 2000
T Abe T Tsuda M Yoshida Y Wada T Kano Y Itoyama M Tamai

OBJECTIVE To evaluate the macular function of Japanese patients with a trinucleotide repeat expansion in the spinocerebellar ataxia type 7 (SCA7) gene. METHODS Ophthalmic findings in patients whose DNA analysis revealed expanded alleles of the trinucleotide repeat in the SCA7 gene were evaluated. RESULTS Trinucleotide repeat was expanded from 40 to 48 in affected patients (control subjects,...

Journal: :Indian Journal of Clinical Biochemistry 2000

Journal: :Brain : a journal of neurology 2004
Caroline J Moore Eileen M Daly Flora Tassone Carolyn Tysoe Nicole Schmitz Virginia Ng Xavier Chitnis Philip McGuire John Suckling Kay E Davies Randi J Hagerman Paul J Hagerman Kieran C Murphy Declan G M Murphy

Expanded trinucleotide repeats are associated with several neuropsychiatric disorders, including fragile X syndrome (FraX) which is the most common inherited form of mental retardation. It is currently thought that FraX results from having >200 CGG trinucleotide repeats, with consequent methylation of the fragile X mental retardation gene (FMR1) and loss of FMR1 protein (FMRP). Pre-mutation car...

2014
Christian J. Michel Giuseppe Pirillo

1 Equipe de Bioinformatique Théorique, FDBT, LSIIT (UMR UdS-CNRS 7005), Université de Strasbourg, Pôle API, boulevard Sébastien Brant, 67400 Illkirch, France 2 Consiglio Nazionale delle Ricerche, Unità di Firenze, Dipartimento di Matematica “U.Dini”, Istituto di Analisi dei Sistemi ed Informatica “Antonio Ruberti”, viale Morgagni 67/A, 50134 Firenze, Italy 3 Université de Marne-la-Vallée, 5 bou...

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