OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
|
29181510 |
2018 |
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Siblings with optic neuropathy and RTN4IP1 mutation.
|
28638143 |
2017 |
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
|
26593267 |
2015 |
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
|
26593267 |
2015 |
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Photophobia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reduced visual acuity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Pallor of optic disc
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Disorder of the optic nerve
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Our results identify novel compound heterozygous mutations in RTN4IP1 which are associated with OPA10, highlighting the frequency of RTN4IP1 mutations in human autosomal recessive IONs.
|
31077085 |
2019 |
Disorder of the optic nerve
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies.
|
29181510 |
2018 |
Disorder of the optic nerve
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Siblings with optic neuropathy and RTN4IP1 mutation.
|
28638143 |
2017 |
Disorder of the optic nerve
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
|
26593267 |
2015 |
Optic Atrophy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
RTN4IP1 has recently been identified as the third known gene associated with the autosomal recessive ION optic atrophy 10 (OPA10).
|
31077085 |
2019 |
Optic Atrophy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies.
|
29181510 |
2018 |
Seizures
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy.
|
31077085 |
2019 |
Neurologic Symptoms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy.
|
31077085 |
2019 |
Encephalopathies
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies.
|
29181510 |
2018 |
Optic Neuropathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Siblings with optic neuropathy and RTN4IP1 mutation.
|
28638143 |
2017 |
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
This is the first study to characterize the expression and function of RTN4IP1 in cancer.
|
23393170 |
2013 |
Malignant neoplasm of thyroid
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype.
|
23393170 |
2013 |
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Small interfering RNA knockdown of RTN4IP1 expression increased cellular proliferation (2- to 4-fold) in all 3 of the cell lines tested and increased cellular invasion (1.5- to 3-fold) and migration (2- to 7.5-fold), colony formation (3- to 6-fold), and tumor spheroid formation (P < .05) in 2 of the 3 cell lines tested (FTC-133 and XTC1).
|
23393170 |
2013 |
Thyroid Neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype.
|
23393170 |
2013 |
Adenocarcinoma, Oxyphilic
|
0.010 |
Biomarker
|
disease |
BEFREE |
In 3 thyroid cancer cell lines (TPC1 from a papillary thyroid cancer, FTC133 from a follicular thyroid cancer, XTC1 from a Hürthle cell carcinoma), small interfering RNA knockdown of RTN4IP1 was used to determine its role in regulating the hallmarks of malignant cell phenotype (cellular proliferation, migration, apoptosis, invasion, tumor spheroid formation, anchorage independent growth).
|
23393170 |
2013 |
Papillary thyroid carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype.
|
23393170 |
2013 |