934 research outputs found

    A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.

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    Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G>A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G>R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T>G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves

    Extracting the Proton ubar content from pp->Direct Photon plus Jet Cross Sections

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    An analysis procedure is proposed to measure the antiquark distributions in the proton over the region 0.01 < x < 0.1. The procedure involves the measurement of high p_t asymmetric direct photon and jet final states in pp interactions. This measurement can be made at the RHIC collider running in pp mode at an energy of sqrt(s)=500 GeV/c. This analysis identifies a region of phase space where the contribution from quark-antiquark annihilation uncharacteristically approaches the magnitude of the contribution from the leading process, quark-gluon Compton scattering. The forward-backward angular asymmetry in the parton center of mass is sensitive to the antiquark content of the proton and the ubar parton density function can be extracted.Comment: 21 pages, 7 figure

    Measurement of quasi-elastic 12C(p,2p) scattering at high momentum transfer

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    We measured the high-momentum quasi-elastic 12C(p,2p) reaction (at center of mass angle near 90 degrees) for 6 and 7.5 GeV/c incident protons. The three-momentum components of both final state protons were measured and the missing energy and momentum of the target proton in the nucleus were determined. The validity of the quasi-elastic picture was verified up to Fermi momenta of about 450 MeV/c, where it might be questionable. Transverse and longitudinal Fermi momentum distributions of the target proton were measured and compared to independent particle models which do not reproduce the large momentum tails. We also observed that the transverse Fermi distribution gets wider as the longitudinal component increases in the beam direction, in contrast to a simple Fermi gas model.Comment: 4 pages including 3 figure

    Sum Rule Description of Color Transparency

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    The assumption that a small point-like configuration does not interact with nucleons leads to a new set of sum rules that are interpreted as models of the baryon-nucleon interaction. These models are rendered semi-realistic by requiring consistency with data for cross section fluctuations in proton-proton diffractive collisions.Comment: 22 pages + 3 postscript figures attache

    Spin Structure of the Pion in a Light-Cone Representation

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    The spin structure of the pion is discussed by transforming the wave function for the pion in the naive quark model into a light-cone representation. It is shown that there are higher helicity (λ1+λ2=±1\lambda_{1}+\lambda_{2}=\pm1) states in the full light-cone wave function for the pion besides the ordinary helicity (λ1+λ2=0\lambda_{1}+\lambda_{2}=0) component wave functions as a consequence from the Melosh rotation relating spin states in light-front dynamics and those in instant-form dynamics. Some low energy properties of the pion, such as the electromagnetic form factor, the charged mean square radius, and the weak decay constant, could be interrelated in this representation with reasonable parameters.Comment: 15 Latex pages, 2 figures upon reques
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