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

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

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

Electron-Phonon Coupling Origin of the resistivity in YNi_{2}B_{2}C Single Crystals

Resistivity measurements from 4.2 K up to 300 K were made on YNi_{2}B_{2}C single crystals with Tc=15.5 K. The resulting rho(T) curve shows a perfect Bloch-Grueneisen (BG) behavior, with a very small residual resistivity which indicates the low impurity content and the high cristallographic quality of the samples. The value lambda_{tr}=0.53 for the transport electron-phonon coupling constant was obtained by using the high-temperature constant value of d(rho)/dT and the plasma frequency reported in literature. The BG expression for the phononic part of the resistivity rho_{ph}(T) was then used to fit the data in the whole temperature range, by approximating alpha^{2}_{tr}F(Omega) with the experimental phonon spectral density G(Omega) multiplied by a two-step weighting function to be determined by the fit. The resulting fitting curve perfectly agrees with the experimental points. We also solved the real-axis Eliashberg equations in both s- and d-wave symmetries under the approximation alpha^{2}F(Omega)= alpha^{2}_{tr}F(Omega). We found that the value of lambda_{tr} here determined in single-band approximation is quite compatible with Tc and the gap Delta experimentally observed. Finally, we calculated the normalized tunneling conductance, whose comparison with break-junction tunnel data gives indication of the possible s-wave symmetry for the order parameter in YNi_{2}B_{2}C.Comment: 6 pages, 5 figures. Proceedings of SATT10 Conference, to be published in Int. J. Mod. Phys.

New supersymmetric quartet of nuclei in the A=190 mass region

We present evidence for a new supersymmetric quartet in the A=190 region of the nuclear mass table. New experimental information on transfer and neutron capture reactions to the odd-odd nucleaus 194 Ir strongly suggests the existence of a new supersymmetric quartet, consisting of the 192,193 Os and 193,194 Ir nuclei. We make explicit predictions for the odd-neutron nucleus 193 Os, and suggest that its spectroscopic properties be measured in dedicated experiments.Comment: 5 pages, 4 figures, updated figures and revised text, Physical Review C, Rapid Communication, in pres

The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function

The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is ubiquitously expressed in both the central nervous system and in the periphery. CHRNA7 is genetically linked to multiple disorders with cognitive deficits, including schizophrenia, bipolar disorder, ADHD, epilepsy, Alzheimer's disease, and Rett syndrome. The regulation of CHRNA7 is complex; more than a dozen mechanisms are known, one of which is a partial duplication of the parent gene. Exons 5–10 of CHRNA7 on chromosome 15 were duplicated and inserted 1.6 Mb upstream of CHRNA7, interrupting an earlier partial duplication of two other genes. The chimeric CHRFAM7A gene product, dupα7, assembles with α7 subunits, resulting in a dominant negative regulation of function. The duplication is human specific, occurring neither in primates nor in rodents. The duplicated α7 sequence in exons 5–10 of CHRFAM7A is almost identical to CHRNA7, and thus is not completely queried in high throughput genetic studies (GWAS). Further, pre-clinical animal models of the α7nAChR utilized in drug development research do not have CHRFAM7A (dupα7) and cannot fully model human drug responses. The wide expression of CHRNA7, its multiple functions and modes of regulation present challenges for study of this gene in disease