Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

Primer sequences utilized in BS/oxBS pyrosequencing and cloning-based sequencing. (XLSX 9.68 kb

Neutrino mass matrix suppression by Abelian charges with see-saw mechanism

We have investigated a neutrino mass matrix model without supersymmetry including three see-saw right-handed neutrinos around order $10^{12}$ GeV masses, aiming at a picture with all small numbers explained as being due to approximately conserved gauge charges. The prediction of the solar neutrino mixing angle is given by $\sin^22\theta_{\odot}= 3 {+3\atop -2}\times10^{-2}$; in fact, the solar mixing angle is, apart from detailed order unity corrections, equal to the Cabibbo angle. Furthermore the ratio of the solar neutrino mass square difference to that for the atmospheric neutrino oscillation is predicted to $6 {+11\atop -4}\times10^{-4}$ and is given by the same Cabibbo angle related parameter $\xi$ as $6 \xi^4$.Comment: 20 pages, 1 figure, uses Latex2

Increased amyloidogenic processing of transgenic human APP in X11-like deficient mouse brain

<p>Abstract</p> <p>Background</p> <p>X11-family proteins, including X11, X11-like (X11L) and X11-like 2 (X11L2), bind to the cytoplasmic domain of amyloid β-protein precursor (APP) and regulate APP metabolism. Both X11 and X11L are expressed specifically in brain, while X11L2 is expressed ubiquitously. X11L is predominantly expressed in excitatory neurons, in contrast to X11, which is strongly expressed in inhibitory neurons. <it>In vivo </it>gene-knockout studies targeting X11, X11L, or both, and studies of X11 or X11L transgenic mice have reported that X11-family proteins suppress the amyloidogenic processing of endogenous mouse APP and ectopic human APP with one exception: knockout of X11, X11L or X11L2 has been found to suppress amyloidogenic metabolism in transgenic mice overexpressing the human Swedish mutant APP (APPswe) and the mutant human PS1, which lacks exon 9 (PS1dE9). Therefore, the data on X11-family protein function in transgenic human APP metabolism <it>in vivo </it>are inconsistent.</p> <p>Results</p> <p>To confirm the interaction of X11L with human APP ectopically expressed in mouse brain, we examined the amyloidogenic metabolism of human APP in two lines of human APP transgenic mice generated to also lack X11L. In agreement with previous reports from our lab and others, we found that the amyloidogenic metabolism of human APP increased in the absence of X11L.</p> <p>Conclusion</p> <p>X11L appears to aid in the suppression of amyloidogenic processing of human APP in brain <it>in vivo</it>, as has been demonstrated by previous studies using several human APP transgenic lines with various genetic backgrounds. X11L appears to regulate human APP in a manner similar to that seen in endogenous mouse APP metabolism.</p

Atmospheric and Solar Neutrinos from Single Right-Handed Neutrino Dominance and U(1) Family Symmetry

We argue that in order to provide a natural explanation of both neutrino mass hierarchies and large neutrino mixing angles, as required by the atmospheric neutrino data, a single right-handed neutrino must give the dominant contribution to the 23 block of the light effective neutrino matrix, and illustrate this mechanism in the framework of models with U(1) family symmetries. Sub-dominant contributions from other right-handed neutrinos are required to give small mass splittings appropriate to the small angle MSW solution to the solar neutrino problem. We give general conditions for achieving this in the framework of U(1) family symmetry models containing arbitrary numbers of right-handed neutrinos, and show how the resulting neutrino mass hierarchies and mixing angles may be expanded in terms of the Wolfenstein parameter.Comment: 30 latex pages. Final version to appear in Nucl.Phys.

See-Saw Realization of the Texture Zeros in the Neutrino Mass Matrix

We study the see-saw realization of seven textures of the neutrino mass matrix, which were presented by Frampton, Glashow and Marfatia. Two of them B_1 and B_2 are not realized in the see-saw mechanism without fine-tuning of parameters. We present some specific textures of the Dirac neutrino mass matrix and the right-handed Majorana neutrino one. In order to test these textures, we discuss the effect on the branching ratio of mu --> e gamma. We also study the U(1)_X times U(1)_{X'} flavor symmetry, in which U(1)_X is anomalous and U(1)_{X'} is non-anomolous, to reproduce texture zeros. We present examples of U(1) charges for two textures A_1 and A_2$.Comment: Latex file, 15 pages, the sign of charge is revise

New Constraints on Neutrino Oscillations in Vacuum as a Possible Solution of the Solar Neutrino Problem

Two-neutrino oscillations in vacuum are studied as a possible solution of the solar neutrino problem. New constraints on the parameter sn2, characterizing the mixing of the electron neutrino with another active or sterile neutrino, as well as on the mass--squared difference, dm2, of their massive neutrino components, are derived using the latest results from the four solar neutrino experiments. Oscillations into a sterile neutrino are ruled out at 99 % C.L. by the observed mean event rates even if one includes the uncertainties of the standard solar model predictions in the analysis.Comment: 10 pages + 3 figures attached as postscript files, IFP-480-UNC and Ref. SISSA 177/93/EP (Updated Version which takes into account the latest GALLEX results from 30 runs

MPGN Type 3 Associated with Pemphigus Herpetiformis Mimicking PGNMID and Dermatitis Herpetiformis

A 45-year-old man suffering from dermal blistering disease with proteinuria and hematuria underwent renal biopsy. The renal biopsy specimen suggested proliferative glomerulonephritis with monoclonal IgG deposits under routine light, immunofluorescence and electron microscopy. The staining for IgG subclasses (IgG1 and IgG2) and κ/λ light chain indicated secondary immune complex type MPGN type 3. The patient had been diagnosed as having dermatitis herpetiformis (DH), a phenotype of gluten hypersensitivity prior to the appearance of the renal abnormality. Although common autoantibodies might be related to the pathogenesis of disorders in the skin and kidney, DH is mainly driven by IgA autoantibody, while MPGN is induced by IgG immune complexes. IgA was not observed in the glomeruli by immunofluorescence. Neither the examination for DH specific autoantibodies nor HLA-DQB1 genotype supported the diagnosis of DH. Reassessment of the skin biopsy record revealed that the blister was localized in the epidermis, suggesting pemphigus herpetiformis by IgG class anti-epidermal autoantibody, which also affected the renal disorder

Planetary period magnetic field oscillations in Saturn's magnetosphere: Postequinox abrupt nonmonotonic transitions to northern system dominance

[1] We examine the “planetary period” magnetic field oscillations observed in the “core” region of Saturn's magnetosphere (dipole L ≤ 12), on 56 near‐equatorial Cassini periapsis passes that took place between vernal equinox in August 2009 and November 2012. Previous studies have shown that these consist of the sum of two oscillations related to the northern and southern polar regions having differing amplitudes and periods that had reached near‐equal amplitudes and near‐converged periods ~10.68 h in the interval to ~1 year after equinox. The present analysis shows that an interval of strongly differing behavior then began ~1.5 years after equinox, in which abrupt changes in properties took place at ~6‐ to 8‐month intervals, with three clear transitions occurring in February 2011, August 2011, and April 2012, respectively. These are characterized by large simultaneous changes in the amplitudes of the two systems, together with small changes in period about otherwise near‐constant values of ~10.63 h for the northern system and ~10.69 h for the southern (thus, not reversed postequinox) and on occasion jumps in phase. The first transition produced a resumption of strong southern system dominance unexpected under northern spring conditions, while the second introduced comparably strong northern system dominance for the first time in these data. The third resulted in suppression of all core oscillations followed by re‐emergence of both systems on a time scale of ~85 days, with the northern system remaining dominant but not as strongly as before. This behavior poses interesting questions for presently proposed theoretical scenarios

Neutrinos: A Glimpse Beyond the Standard Model

After a review of the early history of neutrinos and their detection, we analyze the different types of models that extend the standard model to massive neutrinos. We emphasize the generic nature of maximal mixing between muon and tau neutrinos, given simple assumptions based on grand unification.Comment: Latex, 11 pages. Invited Talk at Neutrino-98, Takayama, Japan, June 1998, to appear in Proceedings. Uses article.st

Deviation of Neutrino Mixing from Bi-maximal

We have studied how observables of the neutrino mixing matrix can link up with the ones in the quark sector. The deviation from the bi-maximal flavor mixing is parameterized using a 3 x 3 unitary matrix. The neutrino mixings are investigated supposing this unitary matrix to be hierarchical like the quark mixing matrix. We obtain the remarkable prediction |U_{e3}| >= 0.03 from the experimentally allowed range tan^2 theta_{sol} = 0.24 ~ 0.89. The CP violation in neutrino oscillations is expected to be very small.Comment: Some references are adde