Results 111 to 120 of about 25,953 (158)
Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease. [PDF]
Am J Case RepThi Tuong Vi N +3 more
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Development of Fluorescent Turn-On Probes for CAG-RNA Repeats
Biosensors, 2022 Fluorescent sensing of nucleic acids is a highly sensitive and efficient bioanalytical method for their study in cellular processes, detection and diagnosis in related diseases. However, the design of small molecule fluorescent probes for the selective binding and detection of RNA of a specific sequence is very challenging because of their diverse ...
Chun-Ho Wong, Au-Yeung Hy, Chan H Y E
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Pathology of CAG repeat diseases
Neuropathology, 2000Neuronal intranuclear inclusions have become the neuropathological signature of the CAG repeat diseases, although their cytotoxicity is a matter of controversy. It has been demonstrated that the inclusions in dentatorubral–pallidoluysian atrophy (DRPLA) and Machado–Joseph disease (MJD) were immunopositive for several transcription factors such as TATA ...
M, Yamada, S, Tsuji, H, Takahashi
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Mammalian Genome, 1998
Department of Therapeutic Radiology, 303 Hunter Radiation Bldg, Yale School of Medicine, 333 Cedar St., New Haven, Connecticut 06510, USA Department of Genetics, 333 Cedar St., Yale University School of Medicine, New Haven, Connecticut 06510, USA Department of Genetics, Case Western Reserve University School of Medicine, 10900 Euclid Ave., Cleveland ...
B L, King +6 more
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Department of Therapeutic Radiology, 303 Hunter Radiation Bldg, Yale School of Medicine, 333 Cedar St., New Haven, Connecticut 06510, USA Department of Genetics, 333 Cedar St., Yale University School of Medicine, New Haven, Connecticut 06510, USA Department of Genetics, Case Western Reserve University School of Medicine, 10900 Euclid Ave., Cleveland ...
B L, King +6 more
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CAG repeats in restless legs syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2006AbstractRecent reports established an association of restless legs syndrome (RLS) and spinocerebellar ataxia (SCA) type 1, 2, and 3. To evaluate the contribution of SCA alleles to idiopathic RLS we investigated the CAG repeat length at the SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 loci in 215 patients who fulfilled the clinical criteria of RLS and ...
Markus, Konieczny +7 more
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Neurology, 1999
Many neurodegenerative diseases are caused by expansions in DNA sequences called trinucleotide repeats.1-3 Huntington’s disease (HD), dentatorubropallidoluysian atrophy, and most of the autosomal dominant cerebellar ataxias (ADCAs) are caused by expansions in CAG repeat sequences that code for a string of glutamine residues at the amino acid level ...
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Many neurodegenerative diseases are caused by expansions in DNA sequences called trinucleotide repeats.1-3 Huntington’s disease (HD), dentatorubropallidoluysian atrophy, and most of the autosomal dominant cerebellar ataxias (ADCAs) are caused by expansions in CAG repeat sequences that code for a string of glutamine residues at the amino acid level ...
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Involvement of lysosomes in the pathogenesis of CAG repeat diseases
Annals of Neurology, 2002AbstractIn CAG repeat diseases, affected neurons possess many cytoplasmic granules immunopositive for expanded polyglutamine stretches. Electron microscopic immunohistochemistry showed that the granules corresponded to lysosomes of primitive type. The results suggest that, in addition to the ubiquitin/proteasome pathway, mutant proteins with expanded ...
Mitsunori, Yamada +2 more
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Polymorphism of CAG repeats in androgen receptor of carnivores
Molecular Biology Reports, 2011Androgen effect is mediated by the androgen receptor (AR). The polymorphism of CAG triplet repeat (polyCAG), in the N-terminal transactivation domain of the AR protein, has been involved either in endocrine or neurological disorders in human. We obtained partial sequence of AR exon 1 in 10 carnivore species.
Bisong Yue, Xiuyue Zhang, Yue Bisong
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Neurology, 1997
Molecular genetics has had a major impact on neurology. The genes for many neurodevelopmental and neurodegenerative disorders have been identified, and molecular diagnosis has replaced invasive and cumbersome diagnostic procedures. The hereditary ataxias may have benefited most from molecular studies.
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Molecular genetics has had a major impact on neurology. The genes for many neurodevelopmental and neurodegenerative disorders have been identified, and molecular diagnosis has replaced invasive and cumbersome diagnostic procedures. The hereditary ataxias may have benefited most from molecular studies.
openaire +1 more source
Genotype‐phenotype correlation in CAG‐repeat diseases
Neuropathology, 2002The expansion of a CAG repeat is a common causative gene mutation in several hereditary neurodegenerative disorders, including dentatorubral‐pallidoluysian atrophy (DRPLA). Although, in DRPLA, it is revealed that the variety of clinical manifestations is related to the variable expansion of the CAG repeat, there are still many problems in the ...
Mitsunori, Yamada +2 more
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