Waisman syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
Additionally, this virus induced high-titer neutralizing antibodies against the WT WSN, A/Puerto Rico/8/1934 (PR8), or A/California/04/2009 (CA04) viruses and provided 100% protection against the WT WSN virus.
|
29765910 |
2018 |
Waisman syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts.
|
28851564 |
2017 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
Three sets of DNA vector-based shRNA, two targeting genes encoding the polymerase acidic protein (PA) and one targeting polymerase basic protein 2 (PB2), efficiently inhibited the replication of influenza virus A/WSN/33(H1N1) in vitro.
|
28380007 |
2017 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
|
27838047 |
2017 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts.
|
28851564 |
2017 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.
|
27943471 |
2016 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RAB39B gene mutations are not linked to familial Parkinson's disease in China.
|
27694831 |
2016 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
|
27066548 |
2015 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
|
25784538 |
2015 |
Waisman syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
|
27066548 |
2015 |
Waisman syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
|
26399558 |
2015 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
To understand the role of the NS1 C-terminal region in regulation of antiviral responses, we engineered influenza viruses expressing C-terminally truncated NS1 proteins using A/WSN/33(H1N1) reverse genetics and tested them in human macrophages and in mice.
|
25934792 |
2015 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
|
25434005 |
2014 |
Waisman syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
|
25434005 |
2014 |
Waisman syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
|
25434005 |
2014 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
|
20159109 |
2010 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
Waisman syndrome
|
0.750 |
AlteredExpression
|
disease |
BEFREE |
Several WSN strain-specific nucleotide differences from the previously-determined sequence of NS1 mRNA from the PR8 (H0N1) strain of influenza A virus, were located within these sequences.
|
3094582 |
1986 |
Waisman syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Waisman syndrome
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|