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771W Involvement of genes encoding epigenetic
regulators in genomic imbalance pathogenic for
intellectual disability.
F. R. Zahir, T. Tucker, S. Adam, D.
Chai, A. D. Delaney, P. Eydoux, M. Griffiths, S. L. Langlois,
J. L. Michaud, E. Tsang, J. M. Friedman.
772W Epigenetic induction of fetal hemoglobin in
CD133+ stem cells in vitro.
D. Ali, M. Ahmadvand, M.
Mahmoodinia Maymand, M. Soleimani, S. Abroun, S.
kaviani, M. Noruzinia.
Gene Structure and Gene Product
Function
773W Investigation of exon 1 in FRDA gene in suspect
Friedreich ataxia patients.
M. Naseroleslami, K. Parivar,
S. Sanjarian, M. Houshmand.
774W Alternative splicing associated with unclassified
variants in CFTR exon 3: Implications for CFTR-related
disorders.
A. Aissat, A. de Becdelièvre, L. Golmard, C.
Costa, A. Chaoui, N. Martin, B. Costes, M. Goossens, E.
Girodon, P. Fanen, A. Hinzpeter.
775W Identification and tissue distribution of
alternative splice variants in the ATP-binding cassette
transporter ABCA2.
R. M. Grimholt, C. Stormo, M. K.
Kringen, J. P. Berg, A. P. Piehler.
776W Pharmacological inhibition of JNK/ERK MAP
kinase pathways attenuates mutant DFNA5-induced
apoptosis.
K. Op de Beeck, A. Schepers, N. Cools, V. F. I.
Van Tendeloo, G. Van Camp.
777W Quantification of chitinase transcripts in mouse
tissues.
M. Ohno, K. Tsuda, M. Sakaguchi, Y. Sugahara,
F. Oyama.
778W Regulation of gene expression of mammalian
chitinases.
F. Oyama, M. Ohno, K. Tsuda, M. Sakaguchi,
Y. Sugahara.
779W Expression of mouse chitinase in
Escherichia
coli
and characterization of its properties.
A.
Kashimura, K. Ishikawa, K. Sekine, Y. Kida, M. Sakaguchi,
Y. Sugahara, F. Oyama.
780W Novel mutations in CYP21A2 gene and their
influence on the enzyme activity and protein structure.
A. L. G. Lusa, F. C. Soardi, G. Guerra-Junior, S. H. V.
Lemos-Marini, M. P. de-Mello.
781W New features for the new SIFT website (http://
sift-dna.org).
P. Ng, J. Hu, N. L. Sim, G. Schneider.
782W Functional study of peptidylarginine deiminase
type 4 as genetic risk factor for RA.
A. Suzuki, Y. Kochi,
H. Shoda, K. Fujio, M. Yamanaka, E. Kanno, T. Sawada,
R. Yamada, K. Yamamoto.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
783W Models of
ε
-sarcoglycan knockdown and their
implications for the pathology of myoclonus dystoni
A. Given, D. E. Bulman, D. A. Grimes.
784W Functional characterization of the 2p15-16
microdeletion.
C. Harvard, R. Colnaghi, D. Alcantara,
Hutter, C. Dunham, P. Pavlidis, J. Pan, R. Wildin, M.
Nowaczyk, B. Maranda, C. Tyson, M. Hrynchak, S.
Martell, Y. Qiao, J. Eichmeyer, J. J. A. Holden, M. E. S.
Lewis, M. O’Driscoll, E. Rajcan-Separovic.
785W Neuronal differentiation effect of huntingtin
associate protein 1.
A. Li, H. Yang, S. H. Li, X. J. Li.
786W Sub-cellular localization of Y-Box protein 1
regulates proliferation, invasion, and increased
mesenchymal phenotype in astrocytomas.
X. Liu, D.
Faury, C. Sollier, B. Meehan, N. Gerges, Z. Dong, P.
Siegel, A. Korshunov, S. Pfister, J. Rak, N. Jabado.
787W Functional analysis of a SNP in TSLP associat
with asthma.
L. Akhabir, A. J. Sandford.
788W DYX1C1 affects cell migration by regulating
neuronal migration genes and by interacting with
cytoskeleton proteins.
K. Tammimies, M. Vitezic, H.
Matsson, S. Le Guyader, T. Burglin, T. Ohman, S.
Stromblad, C. O. Daub, T. A. Nyman, J. Kere, I. Tapia-
Paez.
789W NNK metabolism by CBR1 and HSD11B1.
A. H
J. Engle, N. Fredericksen, C. Gallagher, G. Chen, P.
Lazarus, J. Muscat.
790W Identification of novel fatty acid desaturase 1
isoforms: Localization and differential expression in
tissues and mammalian cells.
W. J. Park, K. S. D.
Kothapalli, H. T. Reardon, P. Lawrence, J. T. Brenna.
791W In vitro and in vivo functional analysis of
ARHGAP31 Mutations, in Adams Oliver syndrome.
D
Dafou, L. Southgate, R. D. Machado, K. M. Snape, M.
Primeau, D. M. Ruddy, P. A. Branney, M. Fisher, G. J. L
M. A. Simpson, Y. He, T. Y. Bradshaw, B. Blaumeiser, W
S. Winship, W. Reardon, E. R. Maher, D. R. FitzPatrick,
Wuyts, M. Zenker, N. Lamarche-Vane, R. C. Trembath.
792W The retinoic acid-induced one gene (
RAI1
) is a
positive regulator of
CLOCK
and an essential
component of the circadian feedback loop of
transcription.
S. R. Williams, D. Zies, S. H. Elsea.
793W Evaluation of maternal and fetal effects of
polymorphisms involved in the folate metabolism on
Down syndrome.
J. M. Biselli, F. A. Poletta, B. L.
Zampieri, C. C. Mendes, F. B. Machado, A. F. A. Silva,
Medina-Acosta, J. S. Lopez-Camelo, E. E. Castilla, E.
Goloni-Bertollo, E. C. Pavarino.
794W A novel BBSome interacting protein is an ADP
ATP translocase, SLC25A31.
X. Chamling, S. Seo, V.
Sheffield.