Results 121 to 130 of about 25,953 (158)

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
K, Ohara1, T, Ikeuchi, Y, Suzuki, M, Ohtani, K, Ohara, S, Tsuji   +5 more
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Huntington's disease as caused by 34 CAG repeats

Movement Disorders, 2008
AbstractHuntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5′ part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of
Jürgen, Andrich, Larissa, Arning, Stefan, Wieczorek, Peter H, Kraus, Ralf, Gold, Carsten, Saft   +5 more
openaire   +2 more sources

Expanded CAG repeats in the crosshairs

Nature Biotechnology, 2009
Antisense oligomers targeted to CAG repeats allow allele-specific knockdown of the gene that causes Huntington's disease.
openaire   +1 more source

Therapy for CAG-repeat diseases?

Molecular Medicine Today, 1998
Abstract Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch Igarashi, S. et al. (1998) Nat. Genet.
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Androgen receptor polymorphism (CAG repeats) and androgenicity

Clinical Endocrinology, 2005
SummaryObjective  Polymorphism of the androgen receptor (AR) has been related to various pathophysiological conditions, such as osteoporosis and infertility. The objectives of this study were to evaluate the frequency of distribution in a normal Italian population and to assess CAG repeats (CAGr) in other conditions, such as hypoandrogenism ...
CANALE D, CAGLIERESI C, MOSCHINI C, LIBERATI CD, MACCHIA, ENRICO, PINCHERA, ALDO, MARTINO, ENIO   +6 more
openaire   +3 more sources

Instability of CAG-trinucleotide Repeats in Chronic Lymphocytic Leukemia

Leukemia and Lymphoma, 2002
Anticipation--earlier onset and more severe disease in the offspring generation--is a well documented feature of familial chronic lymphocytic leukaemia (CLL). In a number of Mendelian diseases, anticipation is caused by expansion of contiguous triplets of nucleotides.
Martin Alexander Rabstein Yuille
exaly   +4 more sources

Identification of an HD patient with a (CAG) 180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

Human Genetics, 1997
The Huntington's disease mutation has been identified as a CAG/polyglutamine repeat expansion in a large gene of unknown function. In order to develop the transgenic systems necessary to uncover the molecular pathology of this disorder, it is necessary to be able to manipulate highly expanded CAG repeats in a cloned form.
K, Sathasivam, I, Amaechi, L, Mangiarini, G, Bates   +3 more
openaire   +2 more sources

Expanded CAG/CTG Repeats in Schizophrenia

British Journal of Psychiatry, 1996
BackgroundSchizophrenia is associated with expanded CAG/CTG trinucleotide repeats. We wished to determine whether the presence of such expansions correlated with specific subsyndromes or other clinical features of schizophrenia.MethodSeventy patients from England and Wales and 44 patients from Portugal with a DSM–III–R diagnosis of schizophrenia were ...
A G, Cardno, K C, Murphy, L A, Jones, C A, Guy, P, Asherson, M H, De Azevedo, I M, Coelho, A J, de Macedo e Santos, C N, Pato, P, McGuffin, M J, Owen, M C, O'Donovan   +11 more
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CAG repeat expansions in patients with sporadic cerebellar ataxia

Acta Neurologica Scandinavica, 1998
CAG repeat expansions cause spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6 and dentatorubral-pallidoluysian atrophy (DRPLA). So far these expansions have been examined mainly in ataxia patients with a family history. However, some sporadic cases with SCA have recently been reported.
N, Futamura, R, Matsumura, Y, Fujimoto, H, Horikawa, A, Suzumura, T, Takayanagi   +5 more
openaire   +2 more sources

Analysis of 14 CAG repeat-containing genes in schizophrenia

American Journal of Medical Genetics, 1999
Recently, it has been suggested that trinucleotide repeat-containing genes may be involved in the etiology of schizophrenia. This study was aimed at investigating putative associations between allelic variants or expansions of CAG repeat-containing genes (CAGrCG) and schizophrenia or its variability with respect to responsiveness to conventional ...
R, Joober, C, Benkelfat, A, Toulouse, R G, Lafrenière, S, Lal, S, Ajroud, G, Turecki, D, Bloom, A, Labelle, P, Lalonde, M, Alda, K, Morgan, R, Palmour, G A, Rouleau   +13 more
openaire   +2 more sources