Loss of Function Mutation
Subject Areas on Research
- Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model.
- BRD4 Prevents R-Loop Formation and Transcription-Replication Conflicts by Ensuring Efficient Transcription Elongation.
- Bacterial Growth Inhibition Screen (BGIS) identifies a loss-of-function mutant of the DEK oncogene, indicating DNA modulating activities of DEK in chromatin.
- Bacterial Growth Inhibition Screen (BGIS): harnessing recombinant protein toxicity for rapid and unbiased interrogation of protein function.
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
- Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
- CD36 initiates the secretory phenotype during the establishment of cellular senescence.
- CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
- CYP2C19 status and risk of major adverse cardiovascular events in peripheral artery disease: Insights from the EUCLID Trial.
- Causal Genetic Variants in Stillbirth.
- Common human ANK2 variant confers in vivo arrhythmia phenotypes.
- De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
- De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
- Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
- Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
- Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
- Hot Spot Mutagenesis Improves the Functional Expression of Unique Mammalian Odorant Receptors.
- Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
- Mice heterozygous for a null mutation of CPE show reduced expression of carboxypeptidase e mRNA and enzyme activity but normal physiology, behavior, and levels of neuropeptides.
- Motor axonopathies in a mouse model of Duchenne muscular dystrophy.
- Mutant allele quantification reveals a genetic basis for TP53 mutation-driven castration resistance in prostate cancer cells.
- PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.
- PORCN inhibition synergizes with PI3K/mTOR inhibition in Wnt-addicted cancers.
- Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
- RD26 mediates crosstalk between drought and brassinosteroid signalling pathways.
- Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors.
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
- Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types.
- The nuclear receptor RORα protects against angiotensin II-induced cardiac hypertrophy and heart failure.
- ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.