Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic linkage studies were undertaken to determine the chromosomal location of the Batten disease mutation (CLN3).
|
2249854 |
1990 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
|
7553855 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
|
7553855 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).
|
7668324 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).
|
7668350 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types.
|
7668357 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2.
|
7668358 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.
|
7806237 |
1994 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of allele "6" at D16S298 (on 96% of Finnish and 92% of European CLN3 chromosomes) provides strong evidence that the same major mutation is responsible for Batten disease in Finland as in most other European countries and that it is therefore not a Finnish mutation.
|
7887419 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288.
|
7887420 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus two phenol sulphotransferase genes (STP and STM) have been finely localised to chromosome 16p12.1-p11.2, to the same region as CLN3, the gene for Batten disease.
|
7999068 |
1994 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
|
8020979 |
1994 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
|
8314582 |
1993 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The juvenile neuronal ceroid-lipofuscinosis (JNCL) is a recessively inherited progressive encephalopathy.
|
8737823 |
1996 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Isolation of a mouse CLN3 homolog will facilitate the creation of a mouse model of Batten disease.
|
8812504 |
1996 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949-957) and the site-specific mutations which give rise to the biological defect.
|
8980123 |
1996 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease.
|
9119403 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods.
|
9151311 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments.
|
9151312 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Farnesylation of Batten disease CLN3 protein.
|
9151320 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase.
|
9219333 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations were identified, including a 1.02-kb deletion that is present in the majority of patients (The International Batten Disease Consortium 1995).
|
9311735 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types.
|
9311735 |
1997 |