|
Hepatoma, Morris
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression profiling and identification of novel genes in hepatocellular carcinomas.
|
11420682 |
2001 |
|
Hepatoma, Novikoff
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression profiling and identification of novel genes in hepatocellular carcinomas.
|
11420682 |
2001 |
|
Liver Neoplasms, Experimental
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Expression profiling and identification of novel genes in hepatocellular carcinomas.
|
11420682 |
2001 |
|
Experimental Hepatoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression profiling and identification of novel genes in hepatocellular carcinomas.
|
11420682 |
2001 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene.
|
31473686 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1).
|
31786241 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
MPS-1 was correlated with advanced tumor stage, suggesting its association with CRC progression.
|
31506433 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
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 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes.
|
31473686 |
2019 |
|
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 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging.
|
30442188 |
2018 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
To investigate how the combination of docetaxel and a Mps1 inhibitor (Cpd-5) promote tumour cell death, we treated mice transplanted with BRCA1<sup>-/-</sup>;TP53<sup>-/-</sup> mammary tumours with docetaxel and/or Cpd-5.
|
29736010 |
2018 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Additional studies in cultured neurons from MPS I mice showed that elevated spermine was essential for the abnormal neurite overgrowth exhibited by MPS neurons.
|
28934395 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
|
29074036 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA).
|
28585336 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
On the basis of in vivo pharmacodynamic vs efficacy relationships, we predict that more than 80% inhibition of MPS1 activity for at least 24 h is required to achieve tumour stasis or regression by CCT271850.
|
28334731 |
2017 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy).
|
28170539 |
2017 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures.
|
29128371 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants.
|
27146977 |
2016 |
|
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 |