6 research outputs found
Analysis of events with b-jets and a pair of leptons of the same charge in pp collisions at âs=8 TeV with the ATLAS detector
An analysis is presented of events containing jets including at least one b-tagged jet, sizeable missing transverse momentum, and at least two leptons including a pair of the same electric charge, with the scalar sum of the jet and lepton transverse momenta being large. A data sample with an integrated luminosity of 20.3 fbâ1 of pp collisions at âs=8 TeV recorded by the ATLAS detector at the Large Hadron Collider is used. Standard Model processes rarely produce these final states, but there are several models of physics beyond the Standard Model that predict an enhanced rate of production of such events; the ones considered here are production of vector-like quarks, enhanced four-top-quark production, pair production of chiral bâČ-quarks, and production of two positively charged top quarks. Eleven signal regions are defined; subsets of these regions are combined when searching for each class of models. In the three signal regions primarily sensitive to positively charged top quark pair production, the data yield is consistent with the background expectation. There are more data events than expected from background in the set of eight signal regions defined for searching for vector-like quarks and chiral bâČ-quarks, but the significance of the discrepancy is less than two standard deviations. The discrepancy reaches 2.5 standard deviations in the set of five signal regions defined for searching for four-top-quark production. The results are used to set 95% CL limits on various models
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this recordData availability: All data are available upon request. The sequence variants in WNK3 (NM_004656.3) reported in the paper have been deposited in ClinVar database. Their respective accession numbers (SCV002107163 to SCV002107168) are indicated in Tables 1 and S1.Purpose
WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.
Method
We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID).
Results
We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p.Pro204Arg, p.Leu300Ser, p.Glu607Val) in WNK3 in 14 male individuals from 6 unrelated families. Affected individuals had identifier with variable presence of epilepsy and structural brain defects. WNK3 variants cosegregated with the disease in 3 different families with multiple affected individuals. This included 1 large family previously diagnosed with X-linked Prieto syndrome. WNK3 pathogenic missense variants localize to the catalytic domain and impede the inhibitory phosphorylation of the neuronal-specific chloride cotransporter KCC2 at threonine 1007, a site critically regulated during the development of synaptic inhibition.
Conclusion
Pathogenic WNK3 variants cause a rare form of human X-linked identifier with variable epilepsy and structural brain abnormalities and implicate impaired phospho-regulation of KCC2 as a pathogenic mechanism.Estonian Research CouncilNational Natural Science Foundation of ChinaRoyal SocietySouth Carolina Department of Disabilities and Special Needs (SCDDSN)National Institute of Neurological Disorders and Stroke (NINDS
Fungalâbased bioherbicides for weed control: a myth or a reality?
International audienceThe use of bioherbicides containing fungal active ingredients or natural fungal molecules is one of the possible solutions to reduce the use of chemical products. This paper focuses on studies of bioherbicides, including both living fungi and natural fungal molecules, published in the last 45 years, and their associated weed targets; current problems in the development of bioherbicides are also discussed. Bibliometric methods based on the Web of Science database were used to analyse relevant articles published between 1973 and 2018. Overall analysis suggested that interest in bioherbicides extends over the preceding thirty years, when many potential microorganisms and natural fungal molecules were proposed. Furthermore, analysis of about 229 articles indicated an encouraging exploitable potential, although there is a real gap between the number of experimental studies and the small number of products currently on the market. A dozen fungalâbased bioherbicides are on the market in the United States and Canada, while countries, such as China and South Africa, have one, and none is available in Europe. The active ingredients in these bioherbicides are living fungi, but no fungal moleculeâbased product is thus far on the market. Reasons for this gap include production hurdles, formulation process, ecological fitness, duration of herbicidal effects, and costly and timeâconsuming registration procedures. However, it is clear that analysis of fungusâplant interactions provides a promising source of bioherbicides that may be applied to appropriate cropping systems for environmentâfriendly, sustainable weed control
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Purpose:
WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.
Method:
We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID).
Results:
We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p.Pro204Arg, p.Leu300Ser, p.Glu607Val) in WNK3 in 14 male individuals from 6 unrelated families. Affected individuals had ID with variable presence of epilepsy and structural brain defects. WNK3 variants cosegregated with the disease in 3 different families with multiple affected individuals. This included 1 large family previously diagnosed with X-linked Prieto syndrome. WNK3 pathogenic missense variants localize to the catalytic domain and impede the inhibitory phosphorylation of the neuronal-specific chloride cotransporter KCC2 at threonine 1007, a site critically regulated during the development of synaptic inhibition.
Conclusion:
Pathogenic WNK3 variants cause a rare form of human X-linked ID with variable epilepsy and structural brain abnormalities and implicate impaired phospho-regulation of KCC2 as a pathogenic mechanism