|
Arteriosclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo.
|
31614249 |
2019 |
|
Atherosclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo.
|
31614249 |
2019 |
|
Hypercholesterolemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo.
|
31614249 |
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 |
|
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 |
|
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 |
|
Lymphadenopathy
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Three major subsets based on the presence of key prognostic variables as genetic aberrations, bulky lymphadenopathy, splenomegaly, and gender: profile (P)-I (n = 34, men/women with CK + no del(17p)/TP53 mutations), P-II (n = 47, predominantly men with del(11q) + no CK + no del(17p)/TP53 mutations), and P-III (n = 35, men/women with del(17p)/TP53 mutations, with/without del(11q) and CK) were revealed.
|
30852300 |
2019 |
|
Clouding of corneal stroma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes.
|
30575621 |
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 |
|
Staphylococcus aureus infection
|
0.010 |
Biomarker
|
disease |
BEFREE |
Single cell analyses reveal specific distribution of anti-bacterial molecule Perforin-2 in human skin and its modulation by wounding and Staphylococcus aureus infection.
|
30609079 |
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 |
|
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 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Patients and Methods Between July 2000 and July 2006, 1,164 patients (1 to 17 years of age) with standard-risk ALL (defined as the absence of high-risk cytogenetics and undetectable minimal residual disease on days 33 and 78) were randomly assigned to either experimental reduced-intensity DI (protocol III; P-III) or standard DI (protocol II; P-II).
|
29148893 |
2018 |
|
MPS III B
|
0.010 |
Biomarker
|
disease |
BEFREE |
We demonstrate that this protein is able to reduce lysosomal defects in primary fibroblasts from MPS I and MPS IIIB patients.
|
29942826 |
2018 |
|
Acute gastroenteritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Structural superimposition and sequence alignment revealed the conservation of the glycan binding site in the P[II] genogroup RV VP8*s. Our data provide significant insight into the glycan binding specificity and glycan binding mechanism of the P[II] genogroup RV VP8*s, which could help in understanding RV evolution, transmission, and epidemiology and in vaccine development.<b>IMPORTANCE</b> Rotaviruses (RVs), belonging to the family <i>Reoviridae</i>, are double-stranded RNA viruses that cause acute gastroenteritis in children and animals worldwide.
|
29720519 |
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 |
|
Secondary Neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
The 8-year cumulative incidence rate of secondary malignancies was 1.3 ± 0.5% and 0.6 ± 0.4% for P-III and P-II, respectively ( P = .37).
|
29148893 |
2018 |
|
Valvular disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Valvular disease prevalence is similar to MPS I and II, but appears less severe.
|
29735373 |
2018 |
|
Gastroenteritis in children
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Structural superimposition and sequence alignment revealed the conservation of the glycan binding site in the P[II] genogroup RV VP8*s. Our data provide significant insight into the glycan binding specificity and glycan binding mechanism of the P[II] genogroup RV VP8*s, which could help in understanding RV evolution, transmission, and epidemiology and in vaccine development.<b>IMPORTANCE</b> Rotaviruses (RVs), belonging to the family <i>Reoviridae</i>, are double-stranded RNA viruses that cause acute gastroenteritis in children and animals worldwide.
|
29720519 |
2018 |
|
Fatigue
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The results indicated that both MPS-1 and MPS-2 presented dose-dependently positive effects on the fatigue related parameters.
|
27840217 |
2017 |
|
Fetal Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
MSCs isolated from AF with the genetic or multifactorial fetal diseases (P II samples) were enriched with repressive histone marks and H4K16ac, H3K9ac, H3K14ac modifications.
|
28379622 |
2017 |
|
Gaucher Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies), Pompe disease and Gaucher disease (one baby each).
|
28721335 |
2017 |
|
Kyphosis deformity of spine
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Thoracolumbar spinal surgery is most commonly performed in MPS I. Preoperative neurological compromise associated with thoracolumbar kyphosis was reported only in MPS IV and VI, where it was associated with factors other than the degree of kyphosis.
|
28538597 |
2017 |
|
Mycobacterium Infections
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here, we report four patients with persistent nontuberculous mycobacterial infection who had heterozygous MPEG1 mutations.
|
28422754 |
2017 |
|
nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy.
|
28619065 |
2017 |