Cis-regulatory and long noncoding RNA alterations in breast cancer - current insights, biomarker utility, and the critical need for functional validation.
Sign Up to like & getrecommendations! Published in 2025 at "Molecular oncology"
DOI: 10.1002/1878-0261.70157
Abstract: Breast cancer's global prevalence underscores a critical need for novel biomarkers to guide treatment and improve patient outcomes. Biomarker discovery historically focused on mutations in protein coding regions, comprising merely 1% of the genome. However,… read more here.
Keywords: critical need; functional validation; cancer; breast cancer ... See more keywords
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24160
Abstract: Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six… read more here.
Keywords: variants uncertain; functional validation; uncertain significance; fdxr deficiency ... See more keywords
Functional validation of CYP304A1 associated with haedoxan A detoxification in Aedes albopictus by RNAi and transgenic Drosophila.
Sign Up to like & getrecommendations! Published in 2022 at "Pest management science"
DOI: 10.1002/ps.7213
Abstract: BACKGROUND Insect cytochrome P450 monooxygenases play important roles in the detoxification metabolism of endogenous and exogenous compounds. Haedoxan A (HA) from Phryma leptostachya L. is a highly efficient natural pesticide used to control houseflies and… read more here.
Keywords: detoxification; cyp304a1; expression; validation cyp304a1 ... See more keywords
Functional validation of epitope-tagged ATF5 knock-in mice generated by improved genome editing of oviductal nucleic acid delivery (i-GONAD).
Sign Up to like & getrecommendations! Published in 2021 at "Cell and tissue research"
DOI: 10.1007/s00441-021-03450-7
Abstract: Activating transcription factor 5 (ATF5) is a stress-responsive transcription factor that belongs to the cAMP response element-binding protein (CREB)/ATF family, and is essential for the differentiation and survival of sensory neurons in murine olfactory organs.… read more here.
Keywords: protein; genome editing; knock mice; functional validation ... See more keywords
Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.
Sign Up to like & getrecommendations! Published in 2017 at "Cell stem cell"
DOI: 10.1016/j.stem.2017.01.010
Abstract: Genome-wide association studies (GWAS) have highlighted a large number of genetic variants with potential disease association, but functional analysis remains a challenge. Here we describe an approach to functionally validate identified variants through differentiation of induced… read more here.
Keywords: functional validation; disease; validation gwas; pluripotent stem ... See more keywords
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-10652-z
Abstract: COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber… read more here.
Keywords: novel; coach syndrome; functional validation; mks3 ... See more keywords
Identification and functional validation of super-enhancers in Arabidopsis thaliana
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2215328119
Abstract: Significance Super-enhancers (SEs) are exceptionally large enhancers and play prominent roles in cell type identity and function in mammalian species. We identified a set of 749 putative SEs in the model plant Arabidopsis thaliana. We… read more here.
Keywords: identification functional; super enhancers; validation super; functional validation ... See more keywords
Identification and functional validation of kynureninases from oral bacteria
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Oral Microbiology"
DOI: 10.1080/20002297.2025.2561213
Abstract: Abstract Background The kynurenine (KYN) pathway produces key metabolites for immunoregulation and neuromodulation in humans, but its presence and activity in the oral microbiome are unclear. This study investigates the functionality of the key kynureninase… read more here.
Keywords: functional validation; identification functional; oral bacteria; validation kynureninases ... See more keywords
Description and functional validation of human enteroendocrine cell sensors
Sign Up to like & getrecommendations! Published in 2024 at "Science"
DOI: 10.1126/science.adl1460
Abstract: Enteroendocrine cells (EECs) are gut epithelial cells that respond to intestinal contents by secreting hormones, including the incretins glucagon-like peptide 1 (GLP-1) and gastric inhibitory protein (GIP), which regulate multiple physiological processes. Hormone release is… read more here.
Keywords: description functional; functional validation; human enteroendocrine; cell ... See more keywords
Abstract 2812: Prognostic implications of gastric cancer-specific tsRNA subtypes and functional validation
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-2812
Abstract: Gastric cancer is a global malignant disease of the digestive tract. The marked heterogeneity of gastric cancer leads to prognostic and therapeutic challenges. tRNA-derived fragments (tsRNAs), a novel class of small non-coding RNAs closely associated… read more here.
Keywords: functional validation; cancer; cancer specific; gastric cancer ... See more keywords
Corrigendum: Cloning and functional validation of early inducible Magnaporthe oryzae responsive CYP76M7 promoter from rice
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2018.00939
Abstract: [This corrects the article on p. 371 in vol. 6, PMID: 26052337.]. read more here.
Keywords: validation early; functional validation; corrigendum cloning; cloning functional ... See more keywords