Results 201 to 210 of about 39,855 (249)

Myotonic dystrophy with no trinucleotide repeat expansion

Annals of Neurology, 1994
AbstractWe report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle ...
Richard T. Moxley, Charles A. Thornton, Robert C. Griggs   +2 more
openaire   +3 more sources

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.

Investigative Ophthalmology and Visual Science, 2015
PURPOSE The purpose of this study was to evaluate the association between the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 gene and Fuchs' endothelial corneal dystrophy (FECD) in a Japanese population.
Masakazu Nakano, Naoki Okumura, Naoki Okumura, Hiroko Nakagawa, N. Koizumi, Yoko Ikeda, Morio Ueno, Kengo Yoshii, Hiroko Adachi, R. Aleff, Malinda L. Butz, W. Highsmith, K. Tashiro, E. Wieben, S. Kinoshita, K. Baratz   +15 more
semanticscholar   +1 more source

The other trinucleotide repeat: polyalanine expansion disorders

Current Opinion in Genetics & Development, 2005
Expansions of trinucleotide repeats encoding polyalanine tracts have been recognized as the cause of several diseases, predominantly congenital malformation syndromes. To date, nine genes with alanine tract expansions have been described. With the exception of PABPN1, which codes for a poly(A)-binding protein, all these genes encode transcription ...
Andrea N. Albrecht, Stefan Mundlos
openaire   +3 more sources

Trinucleotide repeat expansions and human genetic disease

BioEssays, 1994
AbstractTrinucleotide repeat expansions are now a well‐established mutational mechanism in human genetic disease. An unstable CAG repeat is known to be responsible for three neurodegenerative disorders: Huntington's disease, spinal and bulbar musclar atrophy and spinocerebellar ataxia type 1.
Gillian P. Bates, Hans Lehrach
openaire   +3 more sources

A CAG trinucleotide repeat expansion and familial schizophrenia

Psychiatry Research, 2000
Studies which showed anticipation in families with schizophrenia suggested that a trinucleotide repeat expansion mechanism may be involved in the pathogenesis of familial schizophrenia. Furthermore, some studies involving the repeat expansion detection (RED) method showed the median length of CAG repeats to be longer in probands with schizophrenia than
Kenshiro Ohara, Yasuo Suzuki, Mikihisa Ohtani, Koichi Ohara, Takeshi Ikeuchi, Shoji Tsuji   +5 more
openaire   +3 more sources

Structural features of trinucleotide repeats associated with DNA expansion

Biochemistry and Cell Biology, 2001
The mechanism of DNA expansion is not well understood. Recent evidence from genetic, in vivo, and in vitro studies has suggested a link between the formation of alternative DNA secondary structures by trinucleotide repeat tracts and their propensity to undergo expansion.
Irina V. Kovtun, Geoffrey M. Goellner, Cynthia T. McMurray   +2 more
openaire   +3 more sources

Origin and Expansion of Trinucleotide Repeats and Neurological Disorders

Current Genomics, 2005
Unstable expansions of trinucleotide repeats (TNRs) are associated with a growing number of neurological dis- orders (at least 14), including HD (Huntington's disease), fragile X-syndrome, MD (Myotonic dystrophy) and Freidreich's ataxia. These disorders are often characterized by a tendency of certain pathological alleles to further expand due to ...
Nilmani Saha, Radha Gupta, Zakir Khan, Puneet Gandhi, Prateeksha Bhadoria, P. S. Bisen   +5 more
openaire   +2 more sources

Anticipation, imprinting, trinucleotide repeat expansions and psychoses

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2001
1. Since 1991, approximately 20 trinucleotide repeat expansion type neurodegenerative disorders have been reported. They are clinically characterized by anticipation, i.e., worsening severity or earlier age at onset with each succeeding generation for an inherited disease, and imprinting, i.e., a process whereby specific genes are differentially marked
openaire   +3 more sources

Trinucleotide repeat expansions: do they contribute to bipolar disorder?

Brain Research Bulletin, 2001
It has long been known that bipolar disorder has a true but complex genetic background. Reports on genetic anticipation in bipolar disorder opened the way to a new approach for genetic studies. Indeed, anticipation, a decreasing age at onset, and/or increasing disease severity in successive generations, were recently explained by an expansion of ...
Goossens, Dirk, Del-Favero, Jurgen, Van Broeckhoven, Christine   +2 more
openaire   +4 more sources

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families

Muscle & Nerve, 1997
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at ...
Cruz-Martínez A, Buenaventura Anciones, Francesc Palau   +2 more
openaire   +3 more sources