Further genetic heterogeneity for autosomal dominant human sutural cataracts

A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active CRYG genes have been sequenced. A single base-pair change in the CRYGA gene has been shown, leading to a premature stop codon. This was not observed in 170 control individuals. However, it did not segregate with the disease phenotype. This is the first truncating mutation in an active CRYG gene without a dominant phenotype. As the CRYGA mutation did not explain the cataract, several other candidate loci (CCV, GJA8, CRYBB2, BFSP2, MIP, GJA8, central pouch-like, CRYBA1) were investigated by micro-satellite markers and linkage analysis, but they were excluded based on the combination of haplotype analysis and two-point linkage analysis. The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified

Proton Threshold States in the 22Na(p,gamma)23Mg Reaction and Astrophysical Implications

Proton threshold states in 23Mg are important for the astrophysically relevant proton capture reaction 22Na(p,gamma)23Mg. In the indirect determination of the resonance strength of the lowest states, which were not accessible by direct methods, some of the spin-parity assignments remained experimentally uncertain. We have investigated these states with Shell Model, Coulomb displacement, and Thomas-Ehrman shift calculations. From the comparison of calculated and observed properties we relate the lowest relevant resonance state at E=7643 keV to an excited 3/2+ state in accordance with a recent experimental determination by Jenkins et al.. From this we deduce significantly improved values for the 22Na(p,gamma)23Mg reaction rate at stellar temperatures below T_9=0.1K.Comment: 8 pages, 4 figures, 6 table

0+ states and collective bands in 228Th studied by the (p,t) reaction

The excitation spectra in the deformed nucleus 228Th have been studied by means of the (p,t)-reaction, using the Q3D spectrograph facility at the Munich Tandem accelerator. The angular distributions of tritons were measured for about 110 excitations seen in the triton spectra up to 2.5 MeV. Firm 0+ assignments are made for 17 excited states by comparison of experimental angular distributions with the calculated ones using the CHUCK3 code. Assignments up to spin 6+ are made for other states. Sequences of states are selected which can be treated as rotational bands and as multiplets of excitations. Moments of inertia have been derived from these sequences, whose values may be considered as evidence of the two-phonon nature of most 0+ excitations. Experimental data are compared with interacting boson model and quasiparticle-phonon model calculations and with experimental data for 229Pa.Comment: 21 pages, 14 figure

Refinement of the crystal structure of diholmium trinickel hexaboride, Ho2Ni3B6

B6Ho2Ni3, orthorhombic, Cmmm (No. 65), a = 7.6865(9) Å, b = 8.6679(9) Å, c = 3.4742(4) Å, V = 231.5 Å3, Z = 2, Rgt(F) = 0.021, wRref(F2) = 0.048, T= 300 K

Refinement of the crystal structure of holmium nickel borocarbide, HoNiBC

BCHoNi, tetragonal, P4/nmm (No. 129), a =3.5621(5) Å, c = 7.556(2) Å, V = 95.9 Å3, Z = 2, Rgt(F) = 0.030, wRref(F2) = 0.076, T= 300 K

Crystal structure of tetraholmium nickel tetradecaboride, Ho4NiB14

B14Ho4Ni, tetragonal, P4/mnc (No. 128), a = 7.2097(8) Å, c = 7.4587(9) Å, V = 387.7 Å3, Z = 2, Rgt(F) = 0.049, wRref(F2) = 0.087, T = 300 K

Refinement of the crystal structure of holmium tetranickel boride, HoNi4B

BHoNi4, hexagonal, P6/mmm (No. 191), a = 4.9696(4) Å, c = 6.9419(5) Å, V= 148.5 Å3, Z= 2, ρm = 9.13(1) g·cm-3, R(P) = 0.072, wR(P) = 0.099, R(I) = 0.065, T= 300 K