Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our work supports that the molecular diagnostic rate of CMT2 patients can be increased via whole exome sequencing, and our data suggest that assessment of possible HINT1 mutations should be undertaken for CMT2 patients with neuromyotonia.
|
31832804 |
2020 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia.
|
31848916 |
2020 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical presentation and molecular genetic analyses, ARAN-NM was diagnosed in both patients and NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene were believe to be causative for the disorder.
|
30006059 |
2019 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe novel mutations of HINT1 in three Chinese patients with ARANNM from unrelated families.
|
30001929 |
2018 |
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Taken together, our results suggest that the pathophysiology of inherited axonal neuropathy with neuromyotonia can be induced by conversion of HINT1 from a homodimer to monomer, by modification of select surface residues or by a significant reduction of the enzyme's catalytic efficiency.
|
29787766 |
2018 |
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Axonal neuropathy with neuromyotonia: there is a HINT.
|
28007994 |
2017 |
Isaacs syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
|
27549087 |
2016 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.
|
26760849 |
2016 |
Isaacs syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
|
26182879 |
2015 |
Isaacs syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
|
25342199 |
2015 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
|
25342199 |
2015 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in the HINT1 gene were recently identified as the cause of axonal neuropathy with neuromyotonia.
|
26194197 |
2015 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
|
26182879 |
2015 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (HINT1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified.
|
24105373 |
2014 |
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
Isaacs syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
Isaacs syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
|
16835243 |
2006 |
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Isaacs syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Isaacs syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|