|
Congenital heart disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A novel IDUA heterozygous single base insertion (c.1815dupT, p.V606Cfs51<sup>*</sup> ) and a known missence mutation (c.T1037G, p.L346R) were detected in our patient diagnosed as congenital heart disease with heart valve abnormalities.
|
31758674 |
2020 |
|
Mental disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Structural and bioinformatics analysis of the L238Q suggest that this mutation causes a significant reduction in the IDUA enzyme's potential catalytic activity, and this mutation may be more severe than other mutations contributing to the Hurler-Scheie syndrome phenotype, presumably causing the psychiatric disease.
|
31304092 |
2019 |
|
Dental caries
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results demonstrated that IDA mice are at a higher risk of developing deep dental caries compared to non-anemic mice; highlighting the protective role of iron against dental caries.
|
31226577 |
2019 |
|
Chronic Lymphocytic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: APC/C: Anaphase-Promoting Complex/Cyclosome; BAD: BCL2-Associated agonist of cell Death; BAK1: BCL2 Antagonist Kinase1; BAX: BCL2-Associated X; BCL2: B-cell Chronic Lymphocytic Leukaemia (CLL)/Lymphoma 2; BH: BCL2 Homology Domain; BID: BH3-Interacting domain Death agonist; BIM: BCL2-Interacting Mediator of cell death; BUB: Budding Uninhibited by Benzimidazoles; CDC: Cell Division Cycle; CDH1: Cadherin-1; CDK1: Cyclin-Dependent Kinase 1; CEP55: Centrosomal Protein (55 KDa): CIN: Chromosomal Instability; CTA: Cancer Testis Antigen; EGR1: Early Growth Response protein 1; ERK: Extracellular Signal-Regulated Kinase; ESCRT: Endosomal Sorting Complexes Required for Transport; GIN: Genomic Instability; MAD2: Mitotic Arrest Deficient 2; MCL1: Myeloid Cell Leukemia sequence 1; MPS1: Monopolar Spindle 1 Kinase; MYT1: MYelin Transcription factor 1; PLK1: Polo Like Kinase 1; PUMA: p53-Upregulated Mediator of Apoptosis; SAC: Spindle Assembly Checkpoint; TAA: Tumor-Associated Antigen.
|
30601084 |
2019 |
|
Acute monocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The purpose of the study was to evaluate the feasibility of conditioning regimen with sequential chemotherapy (FLAG-IDA), followed by Fludarabine (5 days) + Busulfan (3 days) by parallel analysis of patients with refractory acute myeloid leukemia (AML) from two transplantation centers in China and France.
|
30082853 |
2019 |
|
Leukopenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The toxicity of the FLAG-IDA courses is generally more severe than for the FLAG courses, with marked neutropenia and thrombocytopenia.
|
30887181 |
2019 |
|
Neutropenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The toxicity of the FLAG-IDA courses is generally more severe than for the FLAG courses, with marked neutropenia and thrombocytopenia.
|
30887181 |
2019 |
|
Thrombocytopenia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The toxicity of the FLAG-IDA courses is generally more severe than for the FLAG courses, with marked neutropenia and thrombocytopenia.
|
30887181 |
2019 |
|
Low Vision
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1).
|
31786241 |
2019 |
|
Acute leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
FLAG (fludarabine, cytarabine, granulocyte colony-stimulating factor) and FLAG-IDA (idarubicin added to standard FLAG) are salvage chemotherapy regimens used for relapsed and refractory acute leukemias.
|
30887181 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results highlight an impaired calcium regulation in mPS1 neurons, resulting in a reduced ability to handle oxidative stress, which may lead to cell death and AD.
|
31467635 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Five genes were identified significantly differentially expressed in CCRCC and associated with their survival time, namely: IDUA, NDST1, SAP30L, CRYBA4, and SI.
|
30820959 |
2019 |
|
congenital metabolic disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans.
|
31065277 |
2019 |
|
Multiple Chronic Conditions
|
0.010 |
Biomarker
|
disease |
BEFREE |
The modified cells secrete supra-endogenous enzyme levels, maintain long-term repopulation and multi-lineage differentiation potential, and can improve biochemical and phenotypic abnormalities in an immunocompromised mouse model of Mucopolysaccharidosis type I.
|
31492863 |
2019 |
|
Acute myeloid leukaemia refractory
|
0.010 |
Biomarker
|
disease |
BEFREE |
Clinical outcome of FLAG-IDA chemotherapy sequential with Flu-Bu3 conditioning regimen in patients with refractory AML: a parallel study from Shanghai Institute of Hematology and Institut Paoli-Calmettes.
|
30082853 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mps1 is associated with the BRAF<sup>V600E</sup> mutation and predicts poor outcome in patients with colorectal cancer.
|
30854056 |
2019 |
|
Refractory Acute Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
This retrospective study included children aged 1 to 15 years with relapsed/refractory acute leukemia who received FLAG ± IDA salvage therapy from January 2000 to December 2014.
|
30518307 |
2019 |
|
Fabry Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The incidences of Pompe and Gaucher diseases were similar (1/22,205), with Fabry disease the most frequent (1/8882) and MPS-I the rarest (1/44411).
|
29143201 |
2018 |
|
Conductive hearing loss
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss.
|
30517303 |
2018 |
|
Mucolipidoses
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra.
|
29623569 |
2018 |
|
Hearing Loss, Mixed Conductive-Sensorineural
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss.
|
30517303 |
2018 |
|
Tyrosinemia, Type I
|
0.010 |
Biomarker
|
disease |
BEFREE |
Adeno-associated viral vector delivery of Cas9 and guide RNA induces allelic exchange and rescues the disease phenotype in mouse models of hereditary tyrosinemia type I and mucopolysaccharidosis type I.
|
30102296 |
2018 |
|
Thyroid carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The specific mechanisms of BRAF<sup>V600E</sup> and the unknown pathway associated with Mps1 exhibit potential for further study, and provide a theoretical basis for the molecular treatment of thyroid carcinoma.
|
29805692 |
2018 |
|
Valvular disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Valvular disease prevalence is similar to MPS I and II, but appears less severe.
|
29735373 |
2018 |
|
Brain Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
TNR for <sup>99m</sup>Tc-IDA-D-[c(RGDfK)]<sub>2</sub> was significantly higher than that for <sup>18</sup>F-FDG in brain tumors (6.4 ± 4.1 vs. 0.9 ± 0.4).
|
29053416 |
2017 |