Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.
|
20797687 |
2010 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
|
22938382 |
2012 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
|
22938382 |
2012 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
|
24027063 |
2013 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
|
24027063 |
2013 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
BEFREE |
Notably, elevations in brain LPS lipids in ABHD12(-/-) mice occur early in life (2-6 mo) and are followed by age-dependent increases in microglial activation and auditory and motor defects that resemble the behavioral phenotypes of human PHARC patients.
|
23297193 |
2013 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
MGD |
Notably, elevations in brain LPS lipids in ABHD12(-/-) mice occur early in life (2-6 mo) and are followed by age-dependent increases in microglial activation and auditory and motor defects that resemble the behavioral phenotypes of human PHARC patients.
|
23297193 |
2013 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.
|
24697911 |
2014 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.
|
24697911 |
2014 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
|
25743180 |
2015 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
|
25743180 |
2015 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
|
25743180 |
2015 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described.
|
28448692 |
2017 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized.
|
27890673 |
2017 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
CLINGEN |
Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized.
|
27890673 |
2017 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
BEFREE |
Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized.
|
27890673 |
2017 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
Biomarker
|
disease |
BEFREE |
Taken together, our findings provide a biochemical explanation for why very-long-chain lipids (such as lysophosphatidylserine lipids) accumulate in the brains of ABHD12 knockout mice, which is a murine model of PHARC.
|
30237167 |
2018 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |