|
Leukemia, Myelocytic, Acute
|
0.010 |
Biomarker
|
disease |
BEFREE |
However, the biological function of IARS2 on acute myeloid leukemia (AML) has not yet been identified.
|
30832756 |
2019 |
|
Lung Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We evaluated IARS2 protein expression in lung tumor tissues and paired non-tumor tissues.
|
31157169 |
2019 |
|
Aortic Aneurysm, Abdominal
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The study demonstrated that the expression of Iars, p-p38, osteopontin (OPN) and Bcl-2-associated X protein (Bax) clearly increased, while levels of p-PI3K and smooth muscle 22 alpha (SM22α) decreased significantly in AAA tissues.
|
30905780 |
2019 |
|
Malignant neoplasm of stomach
|
0.010 |
Biomarker
|
disease |
BEFREE |
The IARS2-shRNA lentiviral vector was established and used to infect the GC cell line AGS. qRT-PCR and Western blot were employed to determine the efficiency of IARS2 knockdown.
|
29071539 |
2018 |
|
nervous system disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Our findings support that even though biallelic IARS2 pathogenic variants can result in a distinctive, clinically recognisable phenotype in humans, it can also show a wide range of clinical presentation from severe pediatric neurological disorders of Leigh and West syndrome to both non-syndromic cataract and cataract accompanied by skeletal dysplasia.
|
30419932 |
2018 |
|
Osteochondrodysplasias
|
0.010 |
Biomarker
|
group |
BEFREE |
This study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2.
|
30419932 |
2018 |
|
Skeletal dysplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2.
|
30419932 |
2018 |
|
Dysmorphic features
|
0.010 |
Biomarker
|
disease |
BEFREE |
Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II esophageal achalasia and proposes that a variable sensorineural hearing loss onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1.
|
30419932 |
2018 |
|
Stomach Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The IARS2-shRNA lentiviral vector was established and used to infect the GC cell line AGS. qRT-PCR and Western blot were employed to determine the efficiency of IARS2 knockdown.
|
29071539 |
2018 |
|
Mitochondrial Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
|
30419932 |
2018 |
|
Dysphasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).
|
30041933 |
2018 |
|
Cerebral volume loss
|
0.010 |
Biomarker
|
disease |
BEFREE |
Similar brain features were seen in three already reported PARS2 patients and seemed specific for this defect when compared with other mt-aaRSs defects (DARS2, EARS2, IARS2, and RARS2).Striking resemblance of the phenotype and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS) in six patients from three families of different ethnicity with PARS2 mutations, justifies to distinguish the condition as a new disease entity.
|
29410512 |
2018 |
|
Spondyloepimetaphyseal Dysplasia, X-Linked
|
0.010 |
Biomarker
|
disease |
BEFREE |
We present her clinical features and particularly highlight her skeletal findings, which confirm the presence of a primary SEMD skeletal dysplasia in a growing list of mitochondrial-related disorders including CAGSSS, CODAS, EVEN-PLUS, and X-linked SEMD-MR syndromes.
|
28328135 |
2017 |
|
Non-Small Cell Lung Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggest that IARS2 may be a novel target for the treatment of NSCLC.
|
26639235 |
2016 |
|
Hirschsprung Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression levels of miR-215 in HSCR patient colon tissues were outstandingly lower than controls, which was positively correlated with expression of the host gene IARS2 and negatively correlated with predicted target gene: sialic acid binding Ig-like lectin 8 (SIGLEC-8).
|
28006787 |
2016 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
IARS2 gene is probably a cancer-promoting gene.
|
26722399 |
2015 |
|
Malignant tumor of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of IARS2 gene is different in human colon cancer and surrounding tissues; after knockdown of IARS2 gene, proliferation of the RKO cells is inhibited; there are more cells in G phase and fewer cells in S phase; apoptosis of cells is increased; and formation of colonies is reduced.
|
26722399 |
2015 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of IARS2 gene is different in human colon cancer and surrounding tissues; after knockdown of IARS2 gene, proliferation of the RKO cells is inhibited; there are more cells in G phase and fewer cells in S phase; apoptosis of cells is increased; and formation of colonies is reduced.
|
26722399 |
2015 |
|
Primary malignant neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
IARS2 gene is probably a cancer-promoting gene.
|
26722399 |
2015 |
|
Bilateral cataracts (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
|
25130867 |
2014 |
|
Hypertrophic Cardiomyopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
|
21945886 |
2012 |
|
Hypertrophic obstructive cardiomyopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
|
21945886 |
2012 |
|
MRSA - Methicillin resistant Staphylococcus aureus infection
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mupirocin inhibits isoleucyl-tRNA synthetase and has been used since 1985 to help prevent infection by methicillin-resistant Staphylococcus aureus, particularly within hospitals.
|
21336932 |
2011 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The (A)10(TA)9 in the 5' upstream region (position -318 to approximately -291) of the mitochondrial isoleucyl tRNA synthetase gene (IleRS-A), coded in nuclear DNA, was altered in 59% of the tumors, whereas (A)9 in the 5' upstream region (position -859 to approximately -851) of cytoplasmic isoleucyl tRNA synthetase gene (IleRS-B) was not altered.
|
11526511 |
2001 |
|
West Syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.
|
30419932 |
2018 |