Results 211 to 220 of about 26,354 (249)

CAGn Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men. [PDF]

open access: yesInt J Mol Sci
Chernykh V   +9 more
europepmc   +1 more source

Quantification of disease-associated RNA tandem repeats by nanopore sensing

open access: yes
Patiño-Guillén G   +8 more
europepmc   +1 more source

Trinucleotide Repeat Protocols [PDF]

open access: green, 2004
Part I. Introduction Mouse Models of Triplet Repeat Diseases Gillian P. Bates and David G. Hay Part II. Analysis of Triplet Repeat DNAs and RNAs Analysis of Triplet Repeat Replication by Two-Dimensional Gel Electrophoresis Maria M. Krasilnikova and Sergei M. Mirkin Genetic Analysis for Triplet Repeat Instability in Yeast Michael J.
Yoshinori Kohwi
openaire   +3 more sources

Trinucleotide Repeat Disorders

Seminars in Pediatric Neurology, 2007
DNA trinucleotide repeat expansion diseases represent an interesting group of disorders that include a common cause of mental retardation and autism as well as neurodegenerative and other diseases. Many of these disorders have expression in the pediatric age group.
Harry T. Orr, Huda Y. Zoghbi
openaire   +6 more sources

Trinucleotide repeats in yeast

Research in Microbiology, 1997
The yeast genome exhibits a variety of trinucleotide repeat arrays within protein-coding genes and intergenic regions. In the first situation, repeats are often not random relative to the translational frame, resulting preferably in long stretches of the two acidic amino acids or of their corresponding amine forms.
Guy-Franck Richard, Bernard Dujon
openaire   +3 more sources

The complex pathology of trinucleotide repeats

Current Opinion in Cell Biology, 1997
The expansion of trinucleotide repeat sequences has now been shown to be the underlying cause of at least ten human disorders. Unifying features among these diseases include the unstable behavior of the triplet repeat during germline transmission when the length of the repeat exceeds a critical value.
David E. Housman, P Sanjeeva Reddy
openaire   +3 more sources

Trinucleotide repeat expansion and human disease [PDF]

open access: possibleELECTROPHORESIS, 1995
AbstractTrinucleotide repeat expansions have been identified as the underlying mutation in an increasing number of human genetic diseases, such as fragile site syndromes, myotonic dystrophy and several neurodegenerative disorders including Huntington's disease.
Holger Hummerich, Hans Lehrach
openaire   +5 more sources

Trinucleotide repeats and genome variation

Current Opinion in Genetics & Development, 1993
The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis ...
Derek P.A. Kuhl, C. Thomas Caskey
openaire   +3 more sources

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