Gross properties of exotic nuclei investigated at storage rings and ion traps

Properties of exotic nuclei like atomic masses, decay modes, and half-lives can be ideally investigated in storage rings and ion traps. Some experiments can be carried out under conditions which prevail in hot stellar plasmas. The experimental potential of storage and cooling of exotic nuclei is illustrated with recent experimental results and an outlook to future experiments is presented

Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome

Background: Development of the kidney is initiated when the ureteric bud (UB) branches from the Wolffian duct and invades the overlying metanephric mesenchyme (MM) triggering the mesenchymal/epithelial interactions that are the basis of organ formation. Multiple signaling pathways must be integrated to ensure proper timing and location of the ureteric bud formation. Methods and Principal Findings: We have used gene targeting to create an Lrp4 null mouse line. The mutation results in early embryonic lethality with a subpenetrant phenotype of kidney agenesis. Ureteric budding is delayed with a failure to stimulate the metanephric mesenchyme in a timely manner, resulting in failure of cellular differentiation and resulting absence of kidney formation in the mouse as well as comparable malformations in humans with Cenani-Lenz syndrome. Conclusion: Lrp4 is a multi-functional receptor implicated in the regulation of several molecular pathways, including Wnt and Bmp signaling. Lrp4 2/2 mice show a delay in ureteric bud formation that results in unilateral or bilateral kidney agenesis. These data indicate that Lrp4 is a critical regulator of UB branching and lack of Lrp4 results in congenital kidne

A linear radiofrequency ion trap for accumulation, bunching, and emittance improvement of radioactive ion beams

An ion beam cooler and buncher has been developed for the manipulation of radioactive ion beams. The gas-filled linear radiofrequency ion trap system is installed at the Penning trap mass spectrometer ISOLTRAP at ISOLDE/CERN. Its purpose is to accumulate the 60-keV continuous ISOLDE ion beam with high efficiency and to convert it into low-energy low-emittance ion pulses. The efficiency was found to exceed 10% in agreement with simulations. A more than 10-fold reduction of the ISOLDE beam emittance can be achieved. The system has been used successfully for first on-line experiments. Its principle, setup and performance will be discussed

Isospin Dependence in the Odd-Even Staggering of Nuclear Binding Energies

The FRS-ESR facility at GSI provides unique conditions for precision measurements of large areas on the nuclear mass surface in a single experiment. Values for masses of 604 neutron-deficient nuclides (30<=Z<=92) were obtained with a typical uncertainty of 30 microunits. The masses of 114 nuclides were determined for the first time. The odd-even staggering (OES) of nuclear masses was systematically investigated for isotopic chains between the proton shell closures at Z=50 and Z=82. The results were compared with predictions of modern nuclear models. The comparison revealed that the measured trend of OES is not reproduced by the theories fitted to masses only. The spectral pairing gaps extracted from models adjusted to both masses, and density related observables of nuclei agree better with the experimental data.Comment: Physics Review Letters 95 (2005) 042501 http://link.aps.org/abstract/PRL/v95/e04250

Present and Future Experiments with Stored Exotic Nuclei at Relativistic Energies

Recent progress is presented from experiments on masses and lifetimes of bare and few-electron exotic nuclei at GSI.Comment: Proceedings of International Conference on "Frontiers in Nuclear Structure, Astrophysics and Reactions", Kos, Greece, September 12-17, 200

TOF-Brho Mass Measurements of Very Exotic Nuclides for Astrophysical Calculations at the NSCL

Atomic masses play a crucial role in many nuclear astrophysics calculations. The lack of experimental values for relevant exotic nuclides triggered a rapid development of new mass measurement devices around the world. The Time-of-Flight (TOF) mass measurements offer a complementary technique to the most precise one, Penning trap measurements, the latter being limited by the rate and half-lives of the ions of interest. The NSCL facility provides a well-suited infrastructure for TOF mass measurements of very exotic nuclei. At this facility, we have recently implemented a TOF-Brho technique and performed mass measurements of neutron-rich nuclides in the Fe region, important for r-process calculations and for calculations of processes occurring in the crust of accreting neutron stars.Comment: 8 pages, 4 figures, submitted to Journal of Physics G, proceedings of Nuclear Physics in Astrophysics II

First Direct Mass Measurements of Nuclides around Z=100 with a Multireflection Time-of-Flight Mass Spectrograph

The masses of 246Es, 251Fm, and the transfermium nuclei 249−252Md and 254No, produced by hot- and cold-fusion reactions, in the vicinity of the deformed N=152 neutron shell closure, have been directly measured using a multireflection time-of-flight mass spectrograph. The masses of 246Es and 249,250,252Md were measured for the first time. Using the masses of 249,250Md as anchor points for α decay chains, the masses of heavier nuclei, up to 261Bh and 266Mt, were determined. These new masses were compared with theoretical global mass models and demonstrated to be in good agreement with macroscopic-microscopic models in this region. The empirical shell gap parameter δ2n derived from three isotopic masses was updated with the new masses and corroborates the existence of the deformed N=152 neutron shell closure for Md and Lr

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD

Slowing down of relativistic few-electron heavy ions

Abstract Experimental data on energy loss and energy-loss straggling of fully ionized relativistic heavy ions agree well with the theory of Lindhard and Sùrensen (LS). However, when heavy ions penetrate matter with many¯uctuating ionic charge states the theoretical description is more complicate and less accurate. A novel exploratory step to contribute to a better understanding of the slowing down of heavy ions has been done with the present experiment in an energy region where the atomic interaction is still dominated by bare and few-electron projectiles. In the energy range of 100±1000 MeV/u we measured with the high-resolution magnetic spectrometer FRS the stopping powers, the energyloss straggling and the charge-state distributions of 197 Au, 208 Pb and 209 Bi projectiles in charge-state equilibrium interacting with solids ranging from beryllium to lead targets. Additionally, charge exchange cross-sections have been measured to support a better analysis and interpretation of the energy-loss data. The experimental results on stopping power and energy-loss straggling clearly demonstrate the contribution of ions in dierent charge states. A novel application of the slowing down of relativistic exotic heavy ions is presented.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. Using exome sequencing, we identified homozygous truncating variants in FILIP1 in all patients. FILIP1 is a regulator of filamin homeostasis required for the initiation of cortical cell migration in the developing neocortex and essential for the differentiation process of cross-striated muscle cells during myogenesis. In summary, our data indicate that bi-allelic truncating variants in FILIP1 are causative of a novel autosomal recessive disorder and expand the spectrum of genetic factors causative of arthrogryposis multiplex congenita