Results 211 to 220 of about 39,855 (249)

Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions

Expert Review of Molecular Diagnostics, 2005
There are more than 15 known neurogenetic disorders involving trinucleotide repeat expansion. Expanded repeats range from small expansions of 20-100 copies to larger expansions of up to several thousand units. These dynamic expansions result in variability in age of onset, degree of severity and clinical presentation.
Poh San Lai, Ene-Choo Tan
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TRINUCLEOTIDE‐REPEAT EXPANSIONS AND NEURODEGENERATIVE DISEASE: A MECHANISM OF PATHOGENESIS*

Clinical and Experimental Pharmacology and Physiology, 1996
SUMMARY1. Studies of a number of hereditary neurodegenerative diseases, the most common of which is Huntington's disease, have identified the expansion of trinucleotide repeats as a common causative mutation.2. The diseases are caused by expansions of CAG repeats, encoding polyglutamine tracts, within the coding regions of a variety of unrelated genes.
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A cloning strategy for identification of genes containing trinucleotide repeat expansions

International Journal of Molecular Medicine, 2001
Until today, nineteen trinucleotide repeat expansions larger than forty repeat copies have been found in the human genome. Of these, the CAG/CTG repeat is predominant motif with twelve loci identified, ten of which have been associated with the development of neurodegenerative diseases.
Kerstin Lindblad-Toh, Qiu-Ping Yuan, Alexandra Durr, Cecilia Zander, Martin Schalling, C Burgess   +5 more
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Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions

Current Protocols in Human Genetics, 2017
AbstractSpinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms may have juvenile or infantile onset. There are many different types of SCA, demonstrating different modes of inheritance and types of mutation. The most common forms are due
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Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

Human Molecular Genetics, 1994
150 subjects affected with HD and 45 at high risk for the disease were typed for the CAG trinucleotide repeat at the 5' end of IT15. In all of them we find expanded segments showing marked instability upon transmission. Their length distribution matches those previously reported and inversely correlates (-0.686) with age at onset. Two at risk sibs from
NOVELLETTO A., PERSICHETTI F., SABBADINI G., MANDICH, PAOLA, BELLONE, EMILIA, AJMAR, FRANCO, PERGOLA M., DEL SENNO L., MAC DONALD M., GUSELLA J., FRONTALI M.   +10 more
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Detection and Isolation of Trinucleotide Repeat Expansions Using the RED Method

2004
To facilitate identification of disease genes containing an expanded trinucleotide repeat, a repeat expansion detection (RED) and gene cloning system was established. The RED method was developed to enable detection of expanded trinucleotide repeat sequences in any DNA sample from any species without prior knowledge of the DNA sequences flanking the ...
Martin Schalling, Qiu-Ping Yuan
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A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array

Human Genetics, 2006
CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory neuropathy.
Russell L. Margolis, Susan E. Holmes, Isabel Silveira, J. S. Wentzell, Colleen Callahan, Christopher A. Ross, Ana I. Seixas, Ana I. Seixas   +7 more
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The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

Human Molecular Genetics, 1994
Three fragile sites, FRAXA, FRAXE and FRAXF lie in the Xq27-28 region of the human X chromosome. The expression of FRAXA is associated with the fragile X syndrome, the most prevalent form of inherited mental retardation whilst the expression of FRAXE is ...
R. Ritchie, S. Knight, M. Hirst, P. K. Grewal, M. Bobrow, G. Cross, K. Davies   +6 more
semanticscholar   +1 more source

Trinucleotide repeat expansion mutation and preeclampsia [PDF]

Biochemical Society Transactions, 2000
D. W. Cooper, Eric K. Moses, K. A. Freed, Shaun P. Brennecke   +3 more
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Proteins that modulate trinucleotide repeat expansions in human cells

2012
Expansions of trinucleotide repeats (TNRs) are the genetic cause of several inherited neurological diseases, such as Huntington's disease, myotonic dystrophy and fragile X syndrome. TNR diseases and their causal expansion mutations display several unique characteristics that distinguish them from other diseases and their associated genetic mutations ...
openaire   +1 more source