×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
Biomarker
disease
CTD_human
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
17564970
2007
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
CausalMutation
disease
CLINVAR
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
17564970
2007
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
18850119
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
19277732
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
CausalMutation
disease
CLINVAR
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
19177532
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
CausalMutation
disease
CLINVAR
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
19177532
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
CLINVAR
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
19177532
2009
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
GeneticVariation
disease
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
CausalMutation
disease
CLINVAR
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
25976102
2015
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
Biomarker
disease
GENOMICS_ENGLAND
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
25227500
2015
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
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
×
Entrez Id:
256471
Gene Symbol:
MFSD8
MFSD8
0.970
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016