143 research outputs found
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY DSD patient that presented at birth with ambiguous genitalia. Histological analysis of the surgically removed gonads showed bilateral undifferentiated gonadal tissue and immature testis, both containing malignant germ cells. We screened genomic DNA from this patient for deletions and duplications using an Illumina whole-genome SNP microarray. This analysis revealed a heterozygous deletion within the WWOX gene on chromosome 16, removing exons 6-8. Analysis of parental DNA showed that the deletion was inherited from the mother. cDNA analysis confirmed that the deletion maintained the reading frame, with exon 5 being spliced directly onto exon 9. This deletion is the first description of a germline rearrangement affecting the coding sequence of WWOX in humans. Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development
Poliomyelitis surveillance report number 18, May 20, 1955
Dr. Edwin Lennette, Virus Laboratory, California Department of Public Health, reports isolation of type 1 virus from the stool of case PSU No. Cal-21. He also reports isolation of type 1 virus from the stool of a third \uc2\ub0th contact of non-paralytic case PSU No. Cal-14. Isolations from 2 other contacts of this case were previously reported.Dr. Werner Henle, Children\ue2\u20ac\u2122s Hospital, Philadelphia, reports isolation of type 1 poliomyelitis virus from Case PSU No. Pa-2. This is the first isolation from a case receiving Wyeth Vaccine. This case had first paralysis at the same site as inoculation.One new case was accepted today from West Virginia. This seven-year-old female developed bulbar signs 26 days after inoculation with Lilly Vaccine. Vaccinated cases total 79 at 12:00 noon 5-20-55 (Table l)
Strange particle production in proton-proton collisions at TeV with ALICE at the LHC
The production of mesons containing strange quarks (K, ) and both
singly and doubly strange baryons (, Anti-, and
+Anti-) are measured at central rapidity in pp collisions at
= 0.9 TeV with the ALICE experiment at the LHC. The results are
obtained from the analysis of about 250 k minimum bias events recorded in 2009.
Measurements of yields (dN/dy) and transverse momentum spectra at central
rapidities for inelastic pp collisions are presented. For mesons, we report
yields () of 0.184 0.002 stat. 0.006 syst. for K and
0.021 0.004 stat. 0.003 syst. for . For baryons, we find
= 0.048 0.001 stat. 0.004 syst. for , 0.047
0.002 stat. 0.005 syst. for Anti- and 0.0101 0.0020 stat.
0.0009 syst. for +Anti-. The results are also compared with
predictions for identified particle spectra from QCD-inspired models and
provide a baseline for comparisons with both future pp measurements at higher
energies and heavy-ion collisions.Comment: 33 pages, 21 captioned figures, 10 tables, authors from page 28,
published version, figures at
http://aliceinfo.cern.ch/ArtSubmission/node/387
Two-pion Bose-Einstein correlations in central Pb-Pb collisions at = 2.76 TeV
The first measurement of two-pion Bose-Einstein correlations in central Pb-Pb
collisions at TeV at the Large Hadron Collider is
presented. We observe a growing trend with energy now not only for the
longitudinal and the outward but also for the sideward pion source radius. The
pion homogeneity volume and the decoupling time are significantly larger than
those measured at RHIC.Comment: 17 pages, 5 captioned figures, 1 table, authors from page 12,
published version, figures at
http://aliceinfo.cern.ch/ArtSubmission/node/388
Suppression of charged particle production at large transverse momentum in central Pb-Pb collisions at TeV
Inclusive transverse momentum spectra of primary charged particles in Pb-Pb
collisions at = 2.76 TeV have been measured by the ALICE
Collaboration at the LHC. The data are presented for central and peripheral
collisions, corresponding to 0-5% and 70-80% of the hadronic Pb-Pb cross
section. The measured charged particle spectra in and GeV/ are compared to the expectation in pp collisions at the same
, scaled by the number of underlying nucleon-nucleon
collisions. The comparison is expressed in terms of the nuclear modification
factor . The result indicates only weak medium effects ( 0.7) in peripheral collisions. In central collisions,
reaches a minimum of about 0.14 at -7GeV/ and increases
significantly at larger . The measured suppression of high- particles is stronger than that observed at lower collision energies,
indicating that a very dense medium is formed in central Pb-Pb collisions at
the LHC.Comment: 15 pages, 5 captioned figures, 3 tables, authors from page 10,
published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/98
Particle-yield modification in jet-like azimuthal di-hadron correlations in Pb-Pb collisions at = 2.76 TeV
The yield of charged particles associated with high- trigger
particles ( GeV/) is measured with the ALICE detector in
Pb-Pb collisions at = 2.76 TeV relative to proton-proton
collisions at the same energy. The conditional per-trigger yields are extracted
from the narrow jet-like correlation peaks in azimuthal di-hadron correlations.
In the 5% most central collisions, we observe that the yield of associated
charged particles with transverse momenta GeV/ on the
away-side drops to about 60% of that observed in pp collisions, while on the
near-side a moderate enhancement of 20-30% is found.Comment: 15 pages, 2 captioned figures, 1 table, authors from page 10,
published version, figures at
http://aliceinfo.cern.ch/ArtSubmission/node/350
WW domain interactions regulate the Hippo tumor suppressor pathway
The Hippo kinase pathway is emerging as a conserved signaling pathway that is essential for organ growth and tumorigenesis in Drosophila and mammalians. Although the signaling of the core kinases is relatively well understood, less is known about the upstream inputs, downstream outputs and regulation of the whole cascade. Enrichment of the Hippo pathway components with WW domains and their cognate proline-rich interacting motifs provides a versatile platform for further understanding the mechanisms that regulate organ growth and tumorigenesis. Here, we review recently discovered mechanisms of WW domain-mediated interactions that contribute to the regulation of the Hippo signaling pathway in tumorigenesis. We further discuss new insights and future directions on the emerging role of such regulation
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