Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance | Science
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α | Nature Communications
Strategy for exon 51-skipping in Duchenne muscular dystrophy. Exon... | Download Scientific Diagram
The Nt17 Domain and its Helical Conformation Regulate the Aggregation, Cellular Properties and Neurotoxicity of Mutant Huntingtin Exon 1 - ScienceDirect
Defects in spliceosomal machinery: a new pathway of leukaemogenesis - Maciejewski - 2012 - British Journal of Haematology - Wiley Online Library
Defects in spliceosomal machinery: a new pathway of leukaemogenesis - Maciejewski - 2012 - British Journal of Haematology - Wiley Online Library
Analysis of the effect of the two variants on exon 8 splicing. (A)... | Download Scientific Diagram
Cancer type classification using plasma cell-free RNAs derived from human and microbes | eLife
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
Full-length transcriptomic analysis in murine and human heart reveals diversity of PGC-1α promoters and isoforms regulated distinctly in myocardial ischemia and obesity | BMC Biology | Full Text
Structural Basis of Huntingtin Fibril Polymorphism Revealed by Cryogenic Electron Microscopy of Exon 1 HTT Fibrils | Journal of the American Chemical Society
IJMS | Free Full-Text | Tau Exon 10 Inclusion by PrPC through Downregulating GSK3β Activity
Genes | Free Full-Text | Analysing miRNA-Target Gene Networks in Inflammatory Bowel Disease and Other Complex Diseases Using Transcriptomic Data
Distinct promoter regions of the oxytocin receptor gene are hypomethylated in Prader-Willi syndrome and in Prader-Willi syndrome associated psychosis | Translational Psychiatry
JPM | Free Full-Text | Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation
A coding mutation within the first exon of the human MD-2 gene results in decreased lipopolysaccharide-induced signaling | Genes & Immunity
