Transcriptome-wide analysis of PGC-1α–binding RNAs identifies genes linked to glucagon metabolic action | PNAS
The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer... | Oncotarget
Strategy for exon 51-skipping in Duchenne muscular dystrophy. Exon... | Download Scientific Diagram
Structural Basis of Huntingtin Fibril Polymorphism Revealed by Cryogenic Electron Microscopy of Exon 1 HTT Fibrils | Journal of the American Chemical Society
A coding mutation within the first exon of the human MD-2 gene results in decreased lipopolysaccharide-induced signaling | Genes & Immunity
JPM | Free Full-Text | Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation
IJMS | Free Full-Text | Tau Exon 10 Inclusion by PrPC through Downregulating GSK3β Activity
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JPM | Free Full-Text | Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection - ScienceDirect
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α | Nature Communications
Distinct promoter regions of the oxytocin receptor gene are hypomethylated in Prader-Willi syndrome and in Prader-Willi syndrome associated psychosis | Translational Psychiatry
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage
Structural and regulatory diversity shape HLA-C protein expression levels | Nature Communications
Defining the genetic and evolutionary architecture of alternative splicing in response to infection | Nature Communications
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage | PLOS ONE
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The calcitonin gene is expressed in salmon gills.
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage
