An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants.

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger domain (POGZ) variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ pathogenic variants. This study is based on a French collaboration through the AnDDI-Rares network, and includes 19 patients from 18 families with POGZ pathogenic variants.

Increasing crop heterogeneity enhances multitrophic diversity across agricultural regions.

Agricultural landscape homogenization has detrimental effects on biodiversity and key ecosystem services. Increasing agricultural landscape heterogeneity by increasing seminatural cover can help to mitigate biodiversity loss. However, the amount of seminatural cover is generally low and difficult to increase in many intensively managed agricultural landscapes.

Protected areas and their surrounding territory: socioecological systems in the context of ecological solidarity.

The concept of ecological solidarity (ES) is a major feature of the 2006 law reforming national park policy in France. In the context of biodiversity conservation, the objectives of this study are to outline the historical development of ES, provide a working definition, and present a method for its implementation that combines environmental pragmatism and adaptive management. First, we highlight how ES provides a focus on the interdependencies among humans and nonhuman components of the socioecological system.

Ab initio study of the enantio-selective magnetic-field-induced second harmonic generation in chiral molecules.

We present a systematic ab initio study of enantio-selective magnetic-field-induced second harmonic generation (MFISHG) on a set of chiral systems ((l)-alanine, (l)-arginine and (l)-cysteine; 3,4-dehydro-(l)-proline; (S)-α-phellandrene; (R,S)- and (S,S)-cystine disulphide; N-(4-nitrophenyl)-(S)-prolinol, N-(4-(2-nitrovinyl)-phenyl)-(S)-prolinol, N-(4-tricyanovinyl-phenyl)-(S)-prolinol, (R)-BINOL, (S)-BINAM and 6-(M)-helicene). The needed electronic frequency dependent cubic response calculations are performed within a density functional theory (DFT) approach. A study of the dependence of the property on the choice of electron correlation, on one-electron basis set extension and on the choice of magnetic gauge origin is carried out on a prototype system (twisted oxygen peroxide).