Leveraging big data analytics in healthcare enhancement: trends, challenges and opportunities
Clinical decisions are more promising and evidence-based, hence, big data analytics to
assist clinical decision-making has been expressed for a variety of clinical fields. Due to the …
assist clinical decision-making has been expressed for a variety of clinical fields. Due to the …
Loss of extreme long-range enhancers in human neural crest drives a craniofacial disorder
Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene
result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a …
result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a …
[HTML][HTML] HSF1 drives a transcriptional program distinct from heat shock to support highly malignant human cancers
Summary Heat-Shock Factor 1 (HSF1), master regulator of the heat-shock response,
facilitates malignant transformation, cancer cell survival, and proliferation in model systems …
facilitates malignant transformation, cancer cell survival, and proliferation in model systems …
Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder
Neurodevelopmental and neuropsychiatric disorders result from complex interactions
between critical genetic factors and as-yet-unknown environmental components. To gain …
between critical genetic factors and as-yet-unknown environmental components. To gain …
[HTML][HTML] ELABELA is an endogenous growth factor that sustains hESC self-renewal via the PI3K/AKT pathway
ELABELA (ELA) is a peptide hormone required for heart development that signals via the
Apelin Receptor (APLNR, APJ). ELA is also abundantly secreted by human embryonic stem …
Apelin Receptor (APLNR, APJ). ELA is also abundantly secreted by human embryonic stem …
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13. 2
A combined genome-wide association and linkage study was used to identify loci causing
variation in cystic fibrosis lung disease severity. We identified a significant association (P …
variation in cystic fibrosis lung disease severity. We identified a significant association (P …
Big data analytics in bioinformatics: A machine learning perspective
Bioinformatics research is characterized by voluminous and incremental datasets and
complex data analytics methods. The machine learning methods used in bioinformatics are …
complex data analytics methods. The machine learning methods used in bioinformatics are …
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
MR Knowles, MW Leigh, LE Ostrowski, L Huang… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD …
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD …
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
MR Knowles, LE Ostrowski, NT Loges, T Hurd… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD …
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD …
Lack of GAS2L2 causes PCD by impairing cilia orientation and mucociliary clearance
XM Bustamante-Marin, WN Yin, PR Sears… - The American Journal of …, 2019 - cell.com
Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function
leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent …
leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent …