|
Malignant neoplasm of breast
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Support for these hypotheses came from the observations that (i) two SNPs in TTK and PTTG1 were associated with breast cancer risk; (ii) haplotype and haplotype combination analyses in TTK, BUB1B and PTTG1 revealed a strong association with breast cancer risk; (iii) a trend to an increased risk of breast cancer was found in women harboring a greater number of putative high-risk genotypes/haplotypes of mitotic checkpoint genes and (iv) a significant interaction between high-risk genotypes/haplotypes and reproductive risk factors in determining breast cancer risk was defined.
|
17210994 |
2007 |
|
Malignant Neoplasms
|
0.100 |
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 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, LCM of malignant hepatocytes also revealed up-regulation of unique genes associated with cancer and signaling pathways, including two novel HCC-associated cancer testis antigen genes, NUF2 and TTK.
|
25141867 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
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 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Expression analysis identified many mutant TP53-associated genes, including CDC20, TTK, CDKN2A, and the stem cell gene PROM1, but failed to identify a transcriptional profile associated with complete responses among TP53 mutant tumors.
|
17388661 |
2007 |
|
Pancreatic Neoplasm
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM).
|
20581473 |
2010 |
|
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 |
|
Carcinogenesis
|
0.100 |
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
|
0.100 |
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 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, LCM of malignant hepatocytes also revealed up-regulation of unique genes associated with cancer and signaling pathways, including two novel HCC-associated cancer testis antigen genes, NUF2 and TTK.
|
25141867 |
2014 |
|
Breast Carcinoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Support for these hypotheses came from the observations that (i) two SNPs in TTK and PTTG1 were associated with breast cancer risk; (ii) haplotype and haplotype combination analyses in TTK, BUB1B and PTTG1 revealed a strong association with breast cancer risk; (iii) a trend to an increased risk of breast cancer was found in women harboring a greater number of putative high-risk genotypes/haplotypes of mitotic checkpoint genes and (iv) a significant interaction between high-risk genotypes/haplotypes and reproductive risk factors in determining breast cancer risk was defined.
|
17210994 |
2007 |
|
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 |
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 |
|
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 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 |
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 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 |