Παρασκευή 1 Νοεμβρίου 2019


Which Recurrent Selection Scheme To Improve Mixtures of Crop Species? Theoretical Expectations
In a context of increasing environmental challenges, there is an emerging demand for plant cultivars that are adapted to cultivation in species mixture. It is thus pressing to look for the optimization of selection schemes to grow species mixtures, and especially recurrent selection schemes which are at the core of the improvement of many plant species. We considered the case of two populations from different species to be improved by recurrent selection for their performances in mixture. We set...
G3: .Genes, Genomes, Genetics Mission - Online First Articles
00:47
Heparan Sulfate Structure Affects Autophagy, Lifespan, Responses to Oxidative Stress, and Cell Degeneration inDrosophila parkin Mutants
Autophagy is a catabolic process that provides cells with energy and molecular building blocks during nutritional stress. Autophagy also removes misfolded proteins and damaged organelles, a critical mechanism for cellular repair. Earlier work demonstrated that heparan sulfate proteoglycans, an abundant class of carbohydrate-modified proteins found on cell surfaces and in the extracellular matrix, suppress basal levels of autophagy in several cell types during development inDrosophila melanogaster....
G3: .Genes, Genomes, Genetics Mission - Online First Articles
00:47
Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Abstract Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located...
American Journal of Medical Genetics Part A
Thu Oct 31, 2019 11:46
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
Abstract Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females. Here, we report the first set of monozygotic twin females with PDC deficiency, caused by a novel, de novo heterozygous missense mutation in exon 11 of PDHA1 (NM_000284.3: c.1100A>T). Both twins...
Latest Results for Human Genetics
Thu Oct 31, 2019 02:00

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