|
Anhedonia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Cognitive and behavioral abnormalities were observed only in Mbnl1 deficient mice, which demonstrate behavior consistent with motivational deficits in the Morris water maze, a complex visuo-spatial task and in the sucrose consumption test for anhedonia.
|
20360842 |
2010 |
|
Aphasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
EXP factor score correlated strongly with the SANS affective flattening and alogia subscales scores.
|
30558979 |
2019 |
|
Autism Spectrum Disorders
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Although performances of ASD and TD children improved in both OBS and EXP tasks, children with ASD obtained lower scores of goal achievement than TD children in both learning tasks.
|
30687188 |
2018 |
|
Autism Spectrum Disorders
|
0.020 |
Biomarker
|
disease |
BEFREE |
The main results are as follows: (I) the ASD-EXP group showed significant improvement, compared to the ASD-WLC group, in their reading comprehension ability evidenced from change in comprehension scores; (II) the ASD-EXP group showed increased local brain connectivity in Reading Network regions compared to the ASD-WLC group post-intervention; (III) intervention-related changes in local brain connectivity were observed in the ASD-EXP from pre to post-intervention; and (IV) improvement in language comprehension significantly predicted changes in local connectivity.
|
28869842 |
2017 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The polymorphic terminal-loop of pre-miR-1307 binding with MBNL1 contributes to colorectal carcinogenesis via interference with Dicer1 recruitment.
|
25977444 |
2015 |
|
Cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
Since eye lens cataract is a common feature of DM1 we have examined the distribution and dynamics of MBNL1 in lens epithelial cell lines derived from patients with DM1.
|
24354850 |
2014 |
|
cervical cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
Based on sequencing data mining, we predicted that MBNL1 might be involved in the occurrence and poor prognosis of cervical cancer, and verifed that MBNL1 could regulate the resistance of HeLa cells to cisplatin via Nrf2.
|
31791583 |
2020 |
|
Cervix carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Based on sequencing data mining, we predicted that MBNL1 might be involved in the occurrence and poor prognosis of cervical cancer, and verifed that MBNL1 could regulate the resistance of HeLa cells to cisplatin via Nrf2.
|
31791583 |
2020 |
|
Cholecystolithiasis
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggest that nuclear accumulation of MBNL1 and ribonuclear inclusions may have a direct adverse effect on gallbladder smooth muscle contractility and thus contribute to gallstones formation in DM1 patients.
|
18653337 |
2008 |
|
Cholelithiasis
|
0.010 |
Biomarker
|
disease |
BEFREE |
A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1.
|
18653337 |
2008 |
|
Colorectal Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Furthermore, the effect of MBNL1 on CRC cell migration was confirmed in additional CRC cell lines.
|
30664186 |
2019 |
|
Colorectal Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In summary, our results show that rs7911488 C-allelic pre-miR-1307 binds to MBNL1 and infers with Dicer processing, leading to reduced miR-1307 and increased Bcl2 expression, thus representing an important process in the initiation of CRC.
|
25977444 |
2015 |
|
Conduction disorder of the heart
|
0.010 |
Biomarker
|
group |
BEFREE |
New functions for MBNL1 in miR-1 biogenesis might have a clinically relevant role in myotonic dystrophy cardiac conduction defects and pathology.
|
22892953 |
2012 |
|
Congenital Myotonic Dystrophy
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These data identify MBNL1 as a potential regulator of emotional state with decreased MBNL1 levels underlying the motivational deficits observed in cDM1.
|
20360842 |
2010 |
|
Depressed mood
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In those individuals who did not need an assistive device for walking, lower limb muscle strength was associated with Rey Auditory-Verbal Learning Test [EXP(B): 1.35, 95% CI: 1.07-1.69], time spent in light physical activity was associated with QoL-AD test [EXP(B): 1.13, 95% CI: 1.00-1.02], and the number of steps walked per day was negatively associated with the risk of depression according to the Goldberg Depression Scale [EXP(B): 1.27, 95% CI: 1.000-1.004].
|
29580209 |
2018 |
|
Depressive disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
In those individuals who did not need an assistive device for walking, lower limb muscle strength was associated with Rey Auditory-Verbal Learning Test [EXP(B): 1.35, 95% CI: 1.07-1.69], time spent in light physical activity was associated with QoL-AD test [EXP(B): 1.13, 95% CI: 1.00-1.02], and the number of steps walked per day was negatively associated with the risk of depression according to the Goldberg Depression Scale [EXP(B): 1.27, 95% CI: 1.000-1.004].
|
29580209 |
2018 |
|
Diabetes Mellitus
|
0.010 |
AlteredExpression
|
group |
BEFREE |
These results suggest that sequestration of MBNL1 into the CUG repeat expansion of DMPK mRNA could cause the exclusion of SERCA1 exon 22, and the expression of this aberrant splicing form of SERCA1 could affect the regulation of Ca(2+) concentration of sarcoplasmic reticulum in DM patients.
|
17728322 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
|
Dystrophia myotonica 2
|
0.050 |
Biomarker
|
disease |
BEFREE |
Our data seem indicate that the presence of ribonuclear inclusions and MBNL1 nuclear foci are involved in alteration of alternative splicing but do not impair DM2 myogenic differentiation.
|
19345584 |
2009 |
|
Dystrophia myotonica 2
|
0.050 |
Biomarker
|
disease |
BEFREE |
The results of our immunofluorescence study indicate that, among patients examined, MBNL1 nuclear sequestration in protein foci is a molecular pathology marker of DM1 and DM2 patients where ribonuclear inclusions of transcripts with expanded CUG/CCUG repeats are also present.
|
16920640 |
2007 |
|
Dystrophia myotonica 2
|
0.050 |
Biomarker
|
disease |
BEFREE |
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2.
|
22520280 |
2012 |
|
Dystrophia myotonica 2
|
0.050 |
Biomarker
|
disease |
BEFREE |
Importantly, the ligands are the first to show the ability to disrupt the MBNL1-r(CCUG)n foci in DM2 model cell culture and exhibit low cytotoxicity.
|
24938413 |
2014 |
|
Dystrophia myotonica 2
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Therefore, we analyzed MTMR1 expression in correlation with CUG-binding protein1 (CUG-BP1) and muscleblind-like1 protein (MBNL1) steady-state levels and with morphological features in muscle tissues from DM1 and myotonic dystrophy type 2 (DM2) patients.
|
20685272 |
2010 |
|
Fatigue
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The results showed that under a 190 N axial load, the EXP-T0 group survived the full 5 million cycles, the EXP-T1 group failed at 3.7 million cycles on average and the EXP-T2 groups failed at 1.0 million cycles on average, while the fatigue strength of both the EXP-T1 and EXP-T2 groups was 170 N. The constructs failed through fracture of the pedicle screw.
|
31675364 |
2019 |