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 Here, we identified seven unpublished patients with FDXR deficiency belonging to six… read more here.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
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
Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13020279
Abstract: The advancement of human genomics has revolutionized our understanding of the genetic architecture of many skeletal diseases, including osteoporosis. However, interpreting results from human association studies remains a challenge, since index variants often reside in… read more here.
Keywords: validation osteoporosis; osteoporosis genetic; osteoporosis; biology ... See more keywords