Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
BEFREE |
Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children.
|
30301600 |
2019 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
BEFREE |
In summary, depletion of multiple soluble lysosomal proteins suggest a critical role of CLN7 for lysosomal function, which may contribute to the pathogenesis and progression of CLN7 disease.
|
29514215 |
2018 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
|
28708303 |
2018 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
|
28586915 |
2017 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We have disrupted the Cln7/Mfsd8 gene in mice by targeted deletion of exon 2 generating a novel knockout (KO) mouse model for CLN7 disease, which recapitulates key features of human CLN7 disease pathology.
|
26681805 |
2016 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
|
25976102 |
2015 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
|
25439737 |
2015 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
|
25439737 |
2015 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
|
25227500 |
2015 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
BEFREE |
In summary we have generated a mouse model which is partly valuable as some but not all neuropathological features of human CLN7 disease are recapitulated thus representing an animal model to study CLN7-specific disease mechanisms.
|
24423645 |
2014 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
MGD |
In summary we have generated a mouse model which is partly valuable as some but not all neuropathological features of human CLN7 disease are recapitulated thus representing an animal model to study CLN7-specific disease mechanisms.
|
24423645 |
2014 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.
|
25333361 |
2014 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
|
18850119 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
|
19277732 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
|
19177532 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
|
19177532 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
Biomarker
|
disease |
BEFREE |
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes.
|
19431184 |
2009 |
Ceroid Lipofuscinosis, Neuronal, 7
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
|
19177532 |
2009 |