Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism.
We find enrichment in the Her2 subtype and ductal carcinoma among those observations exhibiting greater cluster correspondence across expression and CNA data.
The multivariate analysis demonstrated PPP3CA expression (<i>P</i> = 0.009) and vascular invasion (<i>P</i> = 0.012) were statistically significant independent risk factors of CCA patients.
We find enrichment in the Her2 subtype and ductal carcinoma among those observations exhibiting greater cluster correspondence across expression and CNA data.
Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism.
Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism.
Higher scores of CNA (suggestive of more needs) were associated with a major burden in caregiving and were related to a more severe behavioral and psychological profile of patients with dementia.
The Abbey pain scale, Doloplus-2, Pain Assessment in Advanced Dementia scale, Pain Assessment Checklist for Seniors with Limited Ability to Communicate, Checklist of Nonverbal Pain Indicators, Pain Assessment for the Dementing Elderly rating tool and the Clinical Utility of the CNAPain Assessment Tool are used in elderly patients with cognitive impairment.
The Abbey pain scale, Doloplus-2, Pain Assessment in Advanced Dementia scale, Pain Assessment Checklist for Seniors with Limited Ability to Communicate, Checklist of Nonverbal Pain Indicators, Pain Assessment for the Dementing Elderly rating tool and the Clinical Utility of the CNA Pain Assessment Tool are used in elderly patients with cognitive impairment.
Higher scores of CNA (suggestive of more needs) were associated with a major burden in caregiving and were related to a more severe behavioral and psychological profile of patients with dementia.
CONCLUSIONS In prostate cancer, miR-99a-3p expression was associated with the Wnt and VEGF signaling pathways, which might inhibit the expression of PPP3CA or HYOU1.
CNA gene sets presented define an entry to a gene-directed and pathway-related functional understanding of ongoing copy number alterations within and between individual ccRCC tumours leading to CNA genes of prognostic and predictive value.
By pooling genetic findings across multiple studies, we have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo mutation in PPP3CA.
Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy.
All data are made publically available upon publication.By combining mutation profiles with CNA and gene expression profiles, we generated an overall profile of the alterations in the major CRC-related signaling pathways.
Subsequent informatic analysis consisted of comparison of these 52 CnA proteins to another proteomic dataset of heart failure, three available independent microarray datasets, and correlation of their expression with the human plasma and urine proteome.
Subsequent informatic analysis consisted of comparison of these 52 CnA proteins to another proteomic dataset of heart failure, three available independent microarray datasets, and correlation of their expression with the human plasma and urine proteome.