Results 221 to 230 of about 139,916 (258)
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Anticipation and repeat expansion in bipolar disorder
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2003AbstractAnticipation is the phenomenon whereby a disease becomes more severe and/or presents with earlier onset as it is transmitted down through generations of a family. The only known mechanism for true anticipation is a class of mutations containing repetitive sequences exemplified by the pathogenic trinucleotide repeat. Studies of bipolar disorder (
Michael, O'Donovan +2 more
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Triplet repeat expansion in neuromuscular disease
Muscle & Nerve, 2000Expansions of unstable trinucleotide repeats cause at least 15 inherited neurologic diseases. Here we review what has been learned of three neuromuscular diseases caused by this type of mutation. X-linked spinal and bulbar muscular atrophy is a motor neuronopathy caused by a CAG repeat expansion in the androgen receptor gene. The mutated protein has an
A P, Lieberman, K H, Fischbeck
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Photosensitivity in a patient with C9orf72 repeat expansion
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2016The phenotype of C9ORF72 repeat expansions is rapidly expanding. Originally found to be the major genetic cause of familial frontotemporal dementia with amyotrophic lateral sclerosis, several other clinical characteristics have been described more recently. Here, we report on a family diagnosed with 'degenerative schizophrenia' and harbouring a C9ORF72
Paula, Janssen, Mark, Houben, Erik, Hoff
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Trinucleotide repeat expansion and human disease
ELECTROPHORESIS, 1995AbstractTrinucleotide 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.
H, Hummerich, H, Lehrach
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Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Archives of General Psychiatry, 1999Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and
R L, Margolis +3 more
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DNA repeat expansions and human disease
Cellular and Molecular Life Sciences CMLS, 2000The repeat expansion diseases are genetic disorders caused by intergenerational expansions of a specific tandem DNA repeat. These disorders range from mildly to severely debilitating or fatal, and all have limited treatment options. How expansion occurs and causes disease is only now beginning to be understood.
K, Usdin, E, Grabczyk
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Myotonic dystrophy with no trinucleotide repeat expansion
Annals of Neurology, 1994AbstractWe 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 ...
C A, Thornton, R C, Griggs, R T, Moxley
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Trinucleotide repeat expansions in neurological disease
Current Opinion in Neurobiology, 1993During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding.
S T, Warren, D L, Nelson
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Trinucleotide repeat expansions: timing is everything
Trends in Molecular Medicine, 2003The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division.
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