Novel CNKSR2 Splice Variant Shown to Skip Exon 16 in Boy with Epileptic Encephalopathy
A novel de novo CNKSR2 intronic variant was shown by minigene assays to cause exon 16 skipping, supporting its reclassification ...
Tag: BMC Medical Genomics
Multi-omics review maps molecular pathways tied to recurrent implantation failure
A systematic review of post-2017 multi-omics studies identifies three recurring molecular themes in recurrent implantation failure but concludes no single ...
MicroRNA miR-3663-3p emerges as diagnostic marker and driver of kidney disease vascular calcification
A new study finds miR-3663-3p is upregulated in chronic kidney disease patients with vascular calcification and promotes calcification in a ...
FOXO1 Emerges as Candidate Regulator and Biomarker in Hip Dysplasia
A study links the transcription factor FOXO1 to chondrocyte proliferation, apoptosis and disease severity in developmental dysplasia of the hip.
Patients weigh promise and peril of gene therapies for inherited heart disease
A qualitative study of 21 adults with familial cardiomyopathy finds that perceived disease severity, family history and safety uncertainties shape ...
Blood biomarkers track gum disease and gingival microcirculation in type 2 diabetes
A retrospective study of 305 patients with type 2 diabetes found that elevated serum sTWEAK, PAI-1, and galectin-3 were independently ...
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