Does regulation of redox status of plant leaves under salinity conditions involve ABA-non responsive SnRK2 kinases

2014

Performance of HPGe detectors in high magnetic field

2006

A new generation of high-resolution hypernuclear gamma$-spectroscopy experiments with high-purity germanium detectors (HPGe) are presently designed at the FINUDA spectrometer at DAPhiNE, the Frascati phi-factory, and at PANDA, the antiproton proton hadron spectrometer at the future FAIR facility. Both, the FINUDA and PANDA spectrometers are built around the target region covering a large solid angle. To maximise the detection efficiency the HPGe detectors have to be located near the target, and therefore they have to be operated in strong magnetic fields B ~ 1 T. The performance of HPGe detectors in such an environment has not been well investigated so far. In the present work VEGA and EURO…

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

2015

Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequen…

TCTN3 Mutations Cause Mohr-Majewski Syndrome

2012

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…

Resolution, efficiency and stability of HPGe detector operating in a magnetic field at various gamma-ray energies

2008

Abstract The use of High Purity Germanium detectors (HPGe) has been planned in some future experiments of hadronic physics. The crystals will be located close to large spectrometers where the magnetic fringing field will not be negligible and their performances might change. Moreover high precision is required in these experiments. The contribution of magnetic field presence and long term measurements is unique. In this paper the results of systematic measurements of the resolution, stability and efficiency of a crystal operating inside a magnetic field of 0.8 T, using radioactive sources in the energy range from 0.08 to 1.33 MeV, are reported. The measurements have been repeated during sev…

CiliaCarta: An integrated and validated compendium of ciliary genes

2019

The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse…

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.

2015

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe the first whole genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource for investigation and interventions into the processes that are critical for the ciliary system. In total, we identified 83 candidate ciliogenesis and ciliopathy genes, including 15 components of the ubiquitin-proteasome system. The validated hits also include 12 encoding G-protein-coupled receptors, and three encoding pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. Com…

ABA-independent SnRK2 kinases are involved in plant response to salinity

2013

Un poster a été présenté lors de cet événement SPE IPM CT non renseigné car non soutenu par INRA; International audience; Sucrose non-fermenting 1-Related Protein Kinases type 2 family (known as SnRK2) are important group of kina- ses present in all tested plant species. It is known that all SnRK2 (excluding SnRK2.9) are activated in response to salinity and hyperosmolarity in Arabidopsis thaliana protoplasts after short time of treatment. In plants, they are in- volved in the early responses to drought and salinity. Recently published data indicate that SnRK2.4 plays important role in the maintenance of root system architecture during salt stress and in response to cadmium treatment. It wa…