Search Results - "Chen, Anlu"
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Multiplex base editing to convert TAG into TAA codons in the human genome
Published in Nature communications (02-08-2022)“…Whole-genome recoding has been shown to enable nonstandard amino acids, biocontainment and viral resistance in bacteria. Here we take the first steps to extend…”
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Journal Article -
2
Widespread epistasis regulates glucose homeostasis and gene expression
Published in PLoS genetics (29-09-2017)“…The relative contributions of additive versus non-additive interactions in the regulation of complex traits remains controversial. This may be in part because…”
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Journal Article -
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A Novel Mapping Strategy Utilizing Mouse Chromosome Substitution Strains Identifies Multiple Epistatic Interactions That Regulate Complex Traits
Published in G3 : genes - genomes - genetics (01-12-2020)“…The genetic contribution of additive non-additive (epistatic) effects in the regulation of complex traits is unclear. While genome-wide association studies…”
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4
Abstract P455: Epistatic Regulation of Hematological-related Traits and Gene Expression in Mice Reveals Additional Heritability Missed by Standard GWAS-type Analyses
Published in Circulation (New York, N.Y.) (03-03-2020)“…Abstract only The genetic contribution of additive versus non-additive (epistasis) effects in the regulation of hematologic and other complex traits is…”
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5
Multiplex base editing to convert $\mathrm{TAG}$ into $\mathrm{TAA}$ codons in the human genome
Published in Nature communications (02-08-2022)“…Whole-genome recoding has been shown to enable nonstandard amino acids, biocontainment and viral resistance in bacteria. Here we take the first steps to extend…”
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Journal Article -
6
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
Published in The journal of clinical endocrinology and metabolism (01-10-2019)“…Abstract Background Somatic mutations in the ubiquitin-specific peptidase 8 (USP8) gene are common in corticotropinomas of children with Cushing disease (CD)…”
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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation
Published in Science (American Association for the Advancement of Science) (10-12-2021)“…Cytokinetic membrane abscission is a spatially and temporally regulated process that requires ESCRT (endosomal sorting complexes required for…”
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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Published in Human molecular genetics (01-06-2018)“…Abstract Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been…”
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Published in PLoS genetics (29-04-2019)“…PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the…”
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10
Applying Forward Genetic Approaches to Rare Mendelian Disorders and Complex Traits
Published 01-01-2018“…Forward genetics utilizes unbiased genetic approaches to locate causal genetic variants of heritable traits. Classic forward genetics approaches were…”
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Dissertation