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784T Identification of protein sub-networks implicated
in autism spectrum disorders.
C. Correia, Y. Diekmann,
J. B. Pereira-Leal, A. M. Vicente, Autism Genome Project
Consortium.
785T TAS2R38 variation and its impact on bitter and
thermal tasting in humans.
A. B. Bering, G. Pickering, P.
Liang.
786T Genetic regulation of ABC transporter expression
in human liver and kidney.
A. Chhibber, S. W. Yee, C.
Wen, R. J. Eclov, H. Fukushima, K. M. Giacomini, D. L.
Kroetz.
787T Identification of putative causal genes for IBD in
the 1q32 region: From genetics to biological
mechanism.
G. David, M. Budarf, G. Charron, S. Foisy, A.
Gardet, R. J. W. Heath, R. J. Xavier, J. D. Rioux.
788T Mutations in
ZBTB24
are associated with
immunodeficiency, centromeric instability and facial
anomalies (ICF) syndrome type 2.
J. Wang, J. C. de
Greef, J. Balog, J. T. den Dunnen, R. R. Frants, K. R.
Straasheijm, C. Aytekin, M. van der Burg, L. Duprez, A.
Ferster, A. R. Gennery, G. Gimelli, I. Reisli, C. Schuetz, A.
Schulz, D. F. C. M. Smeets, Y. Sznajer, C. Wijmenga, M.
C. van Eggermond, M. M. van Ostaijen-ten Dam, A. C.
Lankester, M. J. D. van Tol, P. J. van den Elsen, C. M.
Weemaes, S. M. van der Maarel.
789T The asthma susceptibility gene,
DENND1B
regulates TNF
α
signaling.
M. E. March, P. M. A. Sleiman,
C. Hou, J. Bradfield, C. E. Kim, E. C. Frackelton, J. T.
Glessner, H. Hakonarson.
790T Functional characterization of the role that
components of the retrograde transport machinery
play in early HIV events.
S. Liu, M. Dominska, D.
Dykxhoorn.
791T
Mycobacterium leprae
-dependent antigen
presentation in primary human macrophages with
PARK2
gene mutations.
R. H. M. Sindeaux, V. S.
Sotomaior, D. E. Costa, A. C. Senegaglia, M. T. Mira.
792T Delineating causal variation and the regulatory
landscape at
TNFSF4
in systemic autoimmunity.
H.
Manku, R. Torres, C. Langefeld, S. Guerra, T. Malik, G.
Gilkeson, J. Edberg, R. Kimberley, S. Nath, B. Tsao, R.
Festenstein, T. Vyse, LLAS2, SLEGEN.
793T The protection roles of phosphorylated heat
shock protein 27 in human cells harboring MERRF
A8344G DNA mutation.
M. Hsieh, H. F. Chen, C. Y. Chen,
Y. S. Ma, Y. H. Wei.
794T Advances in understanding the molecular
mechanism of Goldberg-Shprintzen syndrome.
L.
Drévillon, A. Megarbane, D. Gaillard, P. Benit, C. Matar, A.
Briand-Suleau, J. Ghoumid, M. Nasser, V. Bodereau, M.
Conti, M. Doco-Fenzy, P. Rustin, M. Goossens, I. Giurgea.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
795T Genetic and functional characterization of the
RNF114 psoriasis susceptibility gene implicates
dysregulation of innate antiviral responses in diseas
pathogenesis.
F. Capon, A. Onoufriadis, S. Kanneganti,
D. Burden, J. N. Barker, M. J. Bijlmakers, R. C. Trembat
796T Secretion-defective genetic variants of decoy
receptor 3 in pediatric-onset Crohn’s disease.
C. J.
Cardinale, S. Panossian, F. Wang, E. C. Frackelton, C.
Kim, F. D. Mentch, R. M. Chiavacci, K. Kachelries, R.
Pandey, S. F. A. Grant, R. N. Baldassano, H. Hakonarso
797T The role of pyrin on cell migaration and the eff
of colchicine in the process.
A. Cetinkaya, E. Taskiran
Y. Akkaya, B. Peynircioglu, M. Alikasifoglu, E. Yilmaz.
798T The effect of colchicine on LPS-induced MEFV
gene expression.
E. Yilmaz, E. Taskiran, A. Cetinkaya,
Akkaya, B. Peynircioglu.
799T Alternative splicing of MBNL2 transcripts upon
C2C12 differentiation.
M. Fardaei, N. Farajzadeh.
Genomics
800T Disease alleles in the general population: HGM
DM variants in the 1000 Genomes Pilot samples.
Y.
Xue, Y. Chen, N. Huang, E. V. Ball, M. Mort, A. D. Philli
P. D. Stenson, D. N. Copper, C. Tyler-Smith, 1000
Genomes Project.
801T Genome-wide gene expression profiling of
monozygotic twins discordant for autism spectrum
disorder.
E. L. Meaburn, C. Wong, J. Mill, A. Ronald, T.
Price, L. C. Schalkwyk, R. Plomin.
802T The genetics of idiopathic membranous
nephropathy elucidated by GWAS.
H. Stanescu, M.
Arcos-Burgos, A. Medlar, A. Kottgen, D. Bockenhauer,
H. Powis, J. M. Hofstra, P. Brenchley, J. Feehally, A. J.
Rees, H. Debiec, J. F. M. Wetzels, P. Ronco, P. W.
Mathieson, R. Kleta.
803T Whole genome gene expression profile of
omental adipose tissue in obese type 2 diabetic
African Americans.
A. P. Doumatey, H. Xu, A. Adeyem
A. Elkahloun, H. Huang, C. N. Rotimi.
804T Adiponectin Q gene harbors risk variants for
susceptibility traits of metabolic syndrome.
S. Majid,
Al-Najai, E. Andres, S. Elhawari, M. Vigilla, D. Gueco, P.
Muiya, M. Al-shahid, N. Dzimiri.
805T Surprisingly low frequency of deep heteroplas
in human mitochondrial DNA; however, old people
tend to have more heteroplasmies but at lower level
in blood.
S. Sommer, C. Buzin, R. Boles, C. Boysen, W
Scaringe.