|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5).
|
27718145 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease).
|
19690584 |
2010 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of MPS (34 males and 16 females; age range, 1.1-34.9 years; nine with MPS I, 17 with MPS II, 17 with MPS IV, and seven with MPS VI).
|
30848093 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years-three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA).
|
31590383 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%).
|
26740238 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I.
|
29046964 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis.
|
22430208 |
2013 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype.
|
8664897 |
1996 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Understanding the detailed resistance mechanism induced by Mps1 point mutations is therefore vital for the development of novel inhibitors against malignancies.
|
30693152 |
2019 |
|
Mucopolysaccharidosis Type IIIA
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype).
|
29310675 |
2018 |
|
Lysosomal Storage Diseases
|
0.070 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype).
|
29310675 |
2018 |
|
Lysosomal Storage Diseases
|
0.070 |
GeneticVariation
|
group |
BEFREE |
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology.
|
29870571 |
2019 |
|
Mucopolysaccharidosis, MPS-IV-A
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms.
|
18546277 |
2008 |
|
Mucopolysaccharidosis, MPS-IV-A
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%).
|
26740238 |
2016 |
|
Carcinogenesis
|
0.060 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report that Mps1/AKT and B-Raf(WT)/ERK signaling form an auto-regulatory negative feedback loop in melanoma cells; notably, oncogenic B-Raf(V600E) abrogates the negative feedback loop, contributing the aberrant Mps1 functions and tumorigenesis.
|
23726842 |
2013 |
|
Carcinogenesis
|
0.060 |
GeneticVariation
|
phenotype |
BEFREE |
We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis.
|
22430208 |
2013 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme.
|
28619065 |
2017 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate.
|
19751987 |
2010 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
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 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype).
|
29310675 |
2018 |
|
Hartnup Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We found that the phenotype in homozygous Idua-W392X mice closely correlated with the human MPS I-H disease.
|
19751987 |
2010 |
|
Inborn Errors of Metabolism
|
0.020 |
GeneticVariation
|
group |
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 |
|
Mucopolysaccharidosis II
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This is the first study revealing the mutation spectrum of MPS I and MPS II patients in the Indian population.
|
27146977 |
2016 |
|
Mucopolysaccharidosis II
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).
|
28660346 |
2017 |
|
Hurler-Scheie Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes.
|
30575621 |
2019 |