Abstract
LMX1B
haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in ...mice,
Lmx1b
has been shown to play crucial roles in the development of the limb, kidney and eye. Although one functional allele of
Lmx1b
appears adequate for development,
Lmx1b
null mice display ventral-ventral distal limbs with abnormal kidney, eye and cerebellar development, more disruptive, but fully concordant with NPS. In
Lmx1b
functional knockouts (KOs),
Lmx1b
transcription in the limb is decreased nearly 6-fold, indicating autoregulation. Herein, we report on two conserved
L
mx1b
-
a
ssociated
cis
-
r
egulatory
m
odules (
LARM1
and
LARM2)
that are bound by Lmx1b, amplify
Lmx1b
expression with unique spatial modularity in the limb, and are necessary for Lmx1b-mediated limb dorsalization. These enhancers, being conserved across vertebrates (including coelacanth, but not other fish species), and required for normal locomotion, provide a unique opportunity to study the role of dorsalization in the fin to limb transition. We also report on two NPS patient families with normal
LMX1B
coding sequence, but with loss-of-function variations in the
LARM1/2
region, stressing the role of regulatory modules in disease pathogenesis.
The CUORE experiment, a ton-scale cryogenic bolometer array, recently began operation at the Laboratori Nazionali del Gran Sasso in Italy. The array represents a significant advancement in this ...technology, and in this work we apply it for the first time to a high-sensitivity search for a lepton-number-violating process: ^{130}Te neutrinoless double-beta decay. Examining a total TeO_{2} exposure of 86.3 kg yr, characterized by an effective energy resolution of (7.7±0.5) keV FWHM and a background in the region of interest of (0.014±0.002) counts/(keV kg yr), we find no evidence for neutrinoless double-beta decay. Including systematic uncertainties, we place a lower limit on the decay half-life of T_{1/2}^{0ν}(^{130}Te)>1.3×10^{25} yr (90% C.L.); the median statistical sensitivity of this search is 7.0×10^{24} yr. Combining this result with those of two earlier experiments, Cuoricino and CUORE-0, we find T_{1/2}^{0ν}(^{130}Te)>1.5×10^{25} yr (90% C.L.), which is the most stringent limit to date on this decay. Interpreting this result as a limit on the effective Majorana neutrino mass, we find m_{ββ}<(110-520) meV, where the range reflects the nuclear matrix element estimates employed.
The possibility that neutrinos may be their own antiparticles, unique among the known fundamental particles, arises from the symmetric theory of fermions proposed by Ettore Majorana in 1937
. Given ...the profound consequences of such Majorana neutrinos, among which is a potential explanation for the matter-antimatter asymmetry of the universe via leptogenesis
, the Majorana nature of neutrinos commands intense experimental scrutiny globally; one of the primary experimental probes is neutrinoless double beta (0νββ) decay. Here we show results from the search for 0νββ decay of
Te, using the latest advanced cryogenic calorimeters with the CUORE experiment
. CUORE, operating just 10 millikelvin above absolute zero, has pushed the state of the art on three frontiers: the sheer mass held at such ultralow temperatures, operational longevity, and the low levels of ionizing radiation emanating from the cryogenic infrastructure. We find no evidence for 0νββ decay and set a lower bound of the process half-life as 2.2 × 10
years at a 90 per cent credibility interval. We discuss potential applications of the advances made with CUORE to other fields such as direct dark matter, neutrino and nuclear physics searches and large-scale quantum computing, which can benefit from sustained operation of large payloads in a low-radioactivity, ultralow-temperature cryogenic environment.
Some authors have hypothesized that caloric restriction (CR) could determine a reduction in the onset of some types of cancer and in their progression. The aim of the study is to compare the efficacy ...of CR combined with neoadjuvant chemotherapy versus a standard diet combined with neo-CT in women with breast cancer (BC).
81 patients were enrolled, 22 in the CR group and 59 in the control group. CR scheme was designed as follow: caloric intake reduced by 50% of total energy expenditure in the 48h before and in the neo-CT day; by 30% the following days until T2 (6 months).
The analysis at T2 are showing that in the CR group 72,2% had a complete response to the treatment while in the control group the 28,8% had a complete response. The results highlight a positive effect of the CR on the response to the therapy (OR=4.12 95%CI from 1.29 to 13.11).
The results obtained show that CR, monitored by a nutritionist and a trained dietitian, could represent an effective and inexpensive method in strengthening the cytotoxicity of standard neo-CT, both in terms of size reduction and malignancy reduction in BC, leading to a better clinical outcome.
The projected background for the CUORE experiment Alduino, C.; Avignone, F. T.; Azzolini, O. ...
The European physical journal. C, Particles and fields,
08/2017, Letnik:
77, Številka:
8
Journal Article
Recenzirano
Odprti dostop
The Cryogenic Underground Observatory for Rare Events (CUORE) is designed to search for neutrinoless double beta decay of
130
Te with an array of 988 TeO
2
bolometers operating at temperatures ...around 10 mK. The experiment is currently being commissioned in Hall A of Laboratori Nazionali del Gran Sasso, Italy. The goal of CUORE is to reach a 90% C.L. exclusion sensitivity on the
130
Te decay half-life of 9
×
10
25
years after 5 years of data taking. The main issue to be addressed to accomplish this aim is the rate of background events in the region of interest, which must not be higher than 10
-
2
counts/keV/kg/year. We developed a detailed Monte Carlo simulation, based on results from a campaign of material screening, radioassays, and bolometric measurements, to evaluate the expected background. This was used over the years to guide the construction strategies of the experiment and we use it here to project a background model for CUORE. In this paper we report the results of our study and our expectations for the background rate in the energy region where the peak signature of neutrinoless double beta decay of
130
Te is expected.
The realization and characterization of a high quality factor resonator composed of two hollow-dielectric cylinders with its pseudo-TM030 mode resonating at 10.9 GHz frequency is discussed. The ...quality factor was measured at the temperatures 300 K and 4 K obtaining Q300K=(150,000±2,000) and Q4K=(720,000±10,000)respectively, the latter corresponding to a gain of one order of magnitude with respect to a traditional copper cylindrical-cavity with the corresponding TM010 mode resonating at the same frequency. The implications to dark-matter axion-searches with cavity experiments are discussed showing that the gain in quality factor is not spoiled by a reduced geometrical coupling C030 of the cavity mode to the axion field. This reduction effect is estimated to be at most 20%. Numerical simulations show that frequency tuning of several hundreds MHz is feasible.
We report on the measurement of the two-neutrino double-beta decay half-life of Formula omittedTe with the CUORE-0 detector. From an exposure of 33.4 kg year of TeO Formula omitted, the half-life is ...determined to be Formula omitted = 8.2 ± 0.2 (stat.) ± 0.6 (syst.) Formula omitted 10 Formula omitted year. This result is obtained after a detailed reconstruction of the sources responsible for the CUORE-0 counting rate, with a specific study of those contributing to the Formula omittedTe neutrinoless double-beta decay region of interest.
Neutrinoless double-beta (0 ν β β ) decay is a hypothesized lepton-number-violating process that offers the only known means of asserting the possible Majorana nature of neutrino mass. The Cryogenic ...Underground Observatory for Rare Events (CUORE) is an upcoming experiment designed to search for 0 ν β β decay of 130Te using an array of 988 TeO2 crystal bolometers operated at 10 mK. The detector will contain 206 kg of 130Te and have an average energy resolution of 5 keV; the projected 0 ν β β decay half-life sensitivity after five years of livetime is 1.6 × 1026 y at 1 σ (9.5 × 1025 y at the 90% confidence level), which corresponds to an upper limit on the effective Majorana mass in the range 40–100 meV (50–130 meV). In this paper, we review the experimental techniques used in CUORE as well as its current status and anticipated physics reach.
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