نتایج جستجو برای: trinucleotide

تعداد نتایج: 1983  

Journal: :Inf. Comput. 2012
Christian J. Michel Giuseppe Pirillo Mario A. Pirillo

Article history: Received 20 April 2010 Revised 1 December 2011 Available online 28 December 2011

Journal: :Journal of bacteriology 2005
Dipankar Manna Shuang Deng Adam M Breier N Patrick Higgins

Target specificity for bacteriophage Mu was studied using a new phage derivative that enabled cloning of Mu-host junctions from phage DNA. Insertions distributed throughout the chromosome showed no orientation bias with respect to transcription or replication polarity. Genes with a high frequency of the triplet CGG were preferred targets.

2009
Pawel Zajac

DNA is the code for all life. Via intermediary RNA the information encoded by the genome is relayed to proteins executing the various functions in a cell. Together, this repertoire of inherently linked biological macromolecules determines all characteristics and features of a cell. Technological advancements during the last decades have enabled the pursuit of novel types of studies and the inve...

2010
Piotr Kozlowski Mateusz de Mezer Wlodzimierz J. Krzyzosiak

Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype-phenotype relations and because they are directly involved in numerous human genetic diseases. In this study, we searched the human genome reference sequence and annotated exons (exome) for the presence of uninterrupted triplet repeat tracts composed of six or more repeated units. A li...

2013
Claire Concannon Robert S. Lahue

Trinucleotide repeat (TNR) expansion is the causative mutation for at least 17 inherited neurological diseases. An important question in the field is which proteins drive the expansion process. This study reports that the multi-functional protein Sem1 is a novel driver of TNR expansions in budding yeast. Mutants of SEM1 suppress up to 90% of expansions. Subsequent analysis showed that Sem1 faci...

2014
Chandra S. Thammina Richard T. Olsen Martha Malapi-Wight Jo Anne Crouch Margaret R. Pooler

UNLABELLED PREMISE OF THE STUDY Genic microsatellites or simple sequence repeat (genic-SSR) markers were developed in boxwood (Buxus taxa) for genetic diversity analysis, identification of taxa, and to facilitate breeding. • METHODS AND RESULTS cDNA libraries were developed from mRNA extracted from leaves of Buxus sempervirens 'Vardar Valley' and sequenced using the Illumina MiSeq system. ...

Journal: :Journal of medical genetics 1998
M B Delatycki D Paris R J Gardner K Forshaw G A Nicholson N Nassif R Williamson S M Forrest

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
C Jankowski F Nasar D K Nag

Expansion of trinucleotide repeats is associated with a growing number of human diseases. The mechanism and timing of expansion of the repeat tract are poorly understood. In humans, trinucleotide repeats show extreme meiotic instability, and expansion of the repeat tract has been suggested to occur in the germ-line mitotic divisions or postmeiotically during early divisions of the embryo. Studi...

Journal: :Internal medicine 1997
S Tsuji

Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich's ataxia. These diseases share unique features, which are difficult to exp...

Journal: :Annals of clinical and laboratory science 2001
S Eisenschenk W J Triggs G S Pearl A M Rojiani

The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید