|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA.
|
26679169 |
2015 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The discovery of a causative gene mutation (abnormal expansion of the CAG repeat in DRPLA gene) triggered the development of novel neuropathology in DRPLA, which has suggested that polyglutamine-related pathogenesis involves a wide range of central nervous system regions far beyond the systems previously reported to be affected.
|
20500452 |
2010 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions.
|
29236168 |
2018 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.
|
26538302 |
2016 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.
|
9887337 |
1999 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for an intermediate allele in the DRPLA gene appears to have resulted in spastic paraplegia different from any DRPLA phenotype.
|
9109905 |
1997 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An unstable expansion of CAG repeat in the coding region of the DRPLA gene on chromosome 12p is the mutation specific for hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
|
7633415 |
1995 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Possibilities of hereditary ataxias, including SCA1 (ataxin 1, ATXN1), SCA2 (ATXN2), Machado-Joseph disease/SCA3 (ATXN1), SCA6 (ATXN1), SCA7 (ATXN7), SCA12 (protein phosphatase 2, regulatory subunit B, beta isoform; PP2R2B), SCA17 (TATA box binding protein, TBP) and DRPLA (atrophin 1; ATN1), were excluded, and no mutations in the alpha-synuclein gene were found.
|
17420317 |
2007 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consistent with the results from previous studies on transgenic mice that expressed mutant Atrophin-1 with 65 glutamines, Atro-118Q mice exhibited several neurodegenerative phenotypes that are commonly seen in DRPLA patients, including ataxia, tremors, and other motor defects.
|
16407196 |
2006 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian Atrophy (DRPLA) is one of these disorders caused by mutations in the Atrophin-1 protein.
|
20339376 |
2010 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To elucidate how the size of the expanded CAG repeat of the gene for dentatorubral pallidoluysian atrophy (DRPLA) and other factors affect the atrophy of the brainstem and cerebellum, and the appearance of high-intensity signals on T2-weighted MRI of the cerebral white matter of patients with DRPLA, we quantitatively analyzed the MRI findings of 26 patients with DRPLA, the diagnosis of which was confirmed by molecular analysis of the DRPLA gene.
|
9409354 |
1997 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate that the same agents also deplete other polyglutamine disease-related proteins: mutant ataxin-3 and ataxin-7 in cells from spino-cerebellar ataxia patients, and mutant atrophin-1 in cells from dentatorubral-pallidoluysian atrophy patients.
|
31767406 |
2020 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our group established DRPLA transgenic mice harboring a single copy of a full-length human mutant DRPLA gene with 76 CAG repeats (Q76 mice).
|
23754232 |
2013 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease caused by unstable expansion of a CAG repeat in the DRPLA gene.
|
8651298 |
1996 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have established DRPLA transgenic mouse lines (sublines) harboring a single copy of the full-length mutant human DRPLA gene carrying various lengths of expanded CAG repeats (Q76, Q96, Q113, and Q129), which have clearly shown motor deficits and memory disturbance whose severity increases with the length of expanded CAG repeats and age, and successfully replicated the CAG repeat length- and age-dependent features of DRPLA patients.
|
22342974 |
2012 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We herein provide a thorough description of new transgenic mouse models for dentatorubral-pallidoluysian atrophy (DRPLA) harboring a single copy of the full-length human mutant DRPLA gene with 76 and 129 CAG repeats.
|
19039037 |
2009 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An expansion of the CAG triplet in the human gene called atrophin-1 or CTG-B37 causes the neuropsychiatric disease known as dentatorubral-pallidoluysian atrophy (DRPLA).
|
8925251 |
1996 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.
|
9949204 |
1999 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission.
|
9187480 |
1997 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian atrophy (DRPLA) is an incurable autosomal dominant disease caused by an expansion of a CAG repeats in ATN1 gene encoding atrophin 1 protein.
|
31374462 |
2019 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although C.B-17Sz-scid/scid and C57BL/6Sz-scid/scid mice have elevated serum hemolytic complement activity compared with their respective +/+ controls, both NOD/(LtSz-)+/+ and NOD/LtSz-scid/scid mice lack this activity.
|
7995938 |
1995 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: SCA-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function.
|
30827498 |
2019 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations</b>: AD: Alzheimer disease; AMFR/Gp78: autocrine motility factor receptor; CCCP: carbonyl cyanide <i>m</i>-chlorophenylhydrazone; CML: chronic myeloid leukemia; CVB3: coxsackievirus B3; DRPLA: dentatorubral-pallidoluysian atrophy; ER: endoplasmic reticulum; ERAD: ER-associated degradation; FA: focal adhesion; HCQ: hydroxychloroquine; HD: Huntingtin disease; HIF1A/Hif1α: hypoxia inducible factor 1 subunit alpha; HTT: huntingtin; IM: imatinib mesylate; MAP1LC3B: microtubule associated protein 1 light chain 3 beta; NBR1: neighbour of BRCA1; OGA: O-GlcNAcase; PDAC: pancreatic ductal adenocarcinoma; PLEKHM1: pleckstrin homology and RUN domain containing M1; polyQ: poly-glutamine; ROS: reactive oxygen species; RP: retinitis pigmentosa; SNAP29: synaptosome associated protein 29; SPCA3: spinocerebellar ataxia type 3; TNBC: triple-negative breast cancer.
|
30153072 |
2019 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Using a define, enrich, and find early detection approach, the aims of the NOD study are to (a) estimate the 3-year probability of pancreatic ductal adenocarcinoma (PDAC) in NOD (define), (b) establish a biobank of clinically annotated biospecimens from presymptomatic PDAC and control new-onset type 2 diabetes mellitus subjects, (c) conduct phase 3 validation studies of promising biomarkers for identification of incident PDAC in NOD patients (enrich), and (d) provide a platform for development of a future interventional screening protocol for early detection of PDAC in patients with NOD that incorporates imaging studies and/or clinical algorithms (find).
|
30325864 |
2019 |