subject area of
- A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Journal Articles
- A spliceosomal intron in Giardia lamblia Journal Articles
- A validated heart-specific model for splice-disrupting variants in childhood heart disease. Journal Articles
- Abundance of sarcoplasmic reticulum calcium pump isoforms in stomach and cardiac muscles Journal Articles
- Antisense phosphorothioate oligonucleotides: selective killing of the intracellular parasite Leishmania amazonensis. Journal Articles
- Calcium pump isoforms: Diversity, selectivity and plasticity Journal Articles
- Clinical and biological implications of driver mutations in myelodysplastic syndromes Journal Articles
- Cloning, characterization, and functional studies of a human 40-kDa catecholamine-regulated protein: implications in central nervous system disorders Journal Articles
- Distinct distribution of specific members of protein 4.1 gene family in the mouse nephron Journal Articles
- Distribution of snRNPs, splicing factor SC-35 and actin in interphase nuclei: immunocytochemical evidence for differential distribution during changes in functional states Journal Articles
- Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia Journal Articles
- Expression of cyclic-nucleotide-sensitive and -insensitive isoforms of the plasma membrane Ca2+ pump in smooth muscle and other tissues Journal Articles
- Genome-wide CRISPR-Cas9 Interrogation of Splicing Networks Reveals a Mechanism for Recognition of Autism-Misregulated Neuronal Microexons Journal Articles
- Insertion of a Retrotransposon inMbpDisrupts mRNA Splicing and Myelination in a New Mutant Rat Journal Articles
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Journal Articles
- Intestinal epithelial CD23 mediates enhanced antigen transport in allergy: evidence for novel splice forms Journal Articles
- Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained Journal Articles
- Maternal Nicotine Exposure Leads to Impaired Disulfide Bond Formation and Augmented Endoplasmic Reticulum Stress in the Rat Placenta Journal Articles
- Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy Journal Articles
- Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease Journal Articles
- Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation Journal Articles
- Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Journal Articles
- Sarco/endoplasmic reticulum Ca2+-pump isoform SERCA3a is more resistant to superoxide damage than SERCA2b. Journal Articles
- Similar Selective Factors Affect Both between-Gene and between-Exon Divergence in Drosophila Journal Articles
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Journal Articles
- Spontaneous and induced variability of allergens in commodity crops: Ara h 2 in peanut as a case study Journal Articles
- Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis Journal Articles
- The mutant p53‐ID4 complex controls VEGFA isoforms by recruiting lncRNA MALAT1 Journal Articles
- α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T) Journal Articles