Page 233 - ASHG 2012 Annual Meeting Program Guide

222
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2688
F Novel p.Leu795Pro
INSR
mutation with
decreased autophosphorylation in a patient with
Donohue syndrome.
T. Hovnik, K. Trebusˇ ak Podkrajsˇ ek,
J. Kovacˇ, N. Bratanicˇ, T. Battelino.
2689
W Post-transcriptional regulation of DMD by its
3’
UTR.
A. Larsen, M. Howard.
2690
T
NPHP10
(
SDCCAG8
)
interacts with components
of the multi-aminoacyl-tRNA synthetase complex.
K.
Weihbrecht, M. Humbert, V. Sheffield, S. Seo.
2691
F Effect of the mutations Gly250Val and Leu451Val
on the expression of the gene
HEXA
:
Disease causing
or pseudo-mutations.
L. Peleg, R. Svirski, Y. Lerental, M.
Karpati, A. J. Simon.
2692
W Identification and biochemical characterization
of a novel mutation in
DDX11
causing Warsaw
breakage syndrome.
J.-M. Capo-Chichi, S. Bhati, J.
A. Sommers, T. Yammine, E. Chouery, L. Patry, G. A.
Rouleau, M.-E. Samuels, F. F. Hamdan, J. L. Michaud, R.
M. Brosh, Jr., A. Megarbane, Z. Kibar.
2693
T Development of a cell-based reporter assay for
the analysis of regulatory interactions between FGF23/
KLOTHO/FGFR1, small inhibitors, and downstream
targets.
S. Diener, B. Lorenz-Depiereux, T. M. Strom.
2694
F The most activating calcium-sensing receptor
mutation is located in the sixth transmembrane domain
and can be corrected with chemical treatments.
A.-S.
Lia-Baldini, A. Nizou, C. Magdelaine, F. Sturtz, B. Funalot,
A. Liendhard.
2695
W Dysregulated pathways in Cornelia de Lange
syndrome cells mutated in core cohesin genes.
A. Musio, L. Mannini, A. Gimigliano, l. Bianchi, M. A.
Deardorff, F. Cucco, I. D. Krantz, L. Bini.
2696
T Conformations of slipped-DNA junctions
determine correct or mutagenic repair of CAG/
CTG repeats.
M. M. Slean, K. Reddy, B. Wu, K. Nichol
Edamura, M. Kekis, F. Nelissen, R. Aspers, M. Tessari, O.
D. Scharer, S. S. Wijmenga, C. E. Pearson.
2697
F High incidence of
SMAD3
mutations in thoracic
aortic aneurysm and/or dissection patients.
H.
Morisaki, I. Yamanaka, A. Yoshida, R. Sultana, H. Tanaka,
Y. Iba, H. Sasaki, H. Matsuda, K. Minatoya, T. Kosho, N.
Okamoto, A. Kawame, T. Morisaki.
2698
W Clinical exome sequencing leads to the
diagnosis of Timothy syndrome in a patient with
prolonged QT, dysmorphic features, seizures, and
intellectual disability.
W. Zeng, K. D. Gonzalez, X. Li, H.
M. Lu, H. Lu, E. M. Miller, S. Ware, J. J. Wei.
2699
T Mutations in calmodulin cause ventricular
tachycardia and sudden cardiac death.
M. Nyegaard,
M. T. Overgaard, M. T. Søndergaard, M. Vranas, E. R. Behr,
L. L. Hildebrandt, J. Lund, P. L. Hedley, A. J. Camm, G.
Wettrell, I. Fosdal, M. Christiansen, A. D. Børglum.
2674
W A glial origin for periventricular nodular
heterotopia caused by impaired expression of
Filamin-A.
A. Carabalona, S. Beguin, E. Pallesi-
Pocachard, E. Buhler, C. Pellegrino, K. Arnaud, P. Hubert,
M. Ouahla, J.-P. Siffroi, S. Khantane, I. Coupry, C. Goizet,
A. Bernabe-Gelot, A. Represa, C. Cardoso.
2675
T Mining phenotype and disease models from the
mouse genome informatics resource.
J. T. Eppig, S. M.
Bello, H. Dene, A. Anagnostopoulos, H. Onda, R. Babiuk,
M. N. Knowlton, M. Tomczuk, C. L. Smith.
2676
F Molecular genetics and modeling of a novel
BBS5
mutation.
M. H. Al-Hamed, C. V. Lennep, F. Al-
Fadhly, R. J. Simms, B. F. Meyer, J. A. Sayer.
2677
W Limb differences in muscle dystrophy and gene
expression in a murine model of MDC1A suggest possible
targets for therapy.
J. S. Benjamin, R. Marx, R. D. Cohn.
2678
T
FREM1
deficiency causes a syndromic form of
congenital diaphragmatic hernia in humans and mice.
T. F. Beck, O. Shchelochkov, Z. Yu, B. Kim, H. Zaveri, B.
Lee, D. W. Stockton, M. Justice, D. A. Scott.
2679
F Characterization of visual impairment in a Wfs1
mouse model of Wolfram syndrome.
C. Delettre, D.
Bonnet-Wersinger, Y. Tanizawa, G. Lenaers, C. Hamel.
2680
W Gene therapy for X-linked retinitis pigmentosa in
a knockout mouse model of
RP2
.
S. Mookherjee, L. Li, A.
K. Ghosh, N. Khan, P. Colosi, H. Khanna, A. Swaroop.
2681
T Altered splicing of BIN1 muscle-specific
exon in human and Great Danes with progressive
centronuclear myopathies.
J. Bohm, N. Vasli, M. Maurer,
B. S. Cowling, W. Kress, G. D. Shelton, U. Schara, J.
Anderson, R. Herrmann, J. Weis, L. Tiret, J. Laporte.
2682
F Upregulation of androgen-binding protein is
associated with testicular phenotype in
Smarcal1
del/del
mice.
A. Baradaran-Heravi, C. F. Boerkoel.
2683
W A mouse model of
mut
methylmalonic acidemia.
J. S. Sénac, V. H. Aswani, J. R. Sysol, I. Manoli, C. P. Venditti.
2684
T Allelic heterogeneity contributes to variable
ocular dysgenesis caused by
Col4a1
and
Col4a2
mutations in mice.
M. Mao, D. S. Kuo, C. Labelle-
Dumais, M. Jeanne, J. Favor, D. B. Gould.
2685
F Tmprss3 loss of function impairs cochlear inner
hair cell BK channel properties.
B. Delprat, L. Molina, L.
Fasquelle, R. Nouvian, N. Salvetat, H. Scott, M. Guipponi,
F. Molina, J. L. Puel.
2686
W Interaction with p97/VCP alters the intracellular
itinerary of the copper-transporting ATPase, ATP7A.
L.
Yi, S. G. Kaler.
2687
T JNK phosphorylation is responsible for the
greater osteogenic potential of periosteum derived
fibroblasts harboring the FGFR2 S252W mutation
(
Apert syndrome).
R. Atique, E. Yeh, H. Matsushita, N.
Alonso, M. R. Passos-Bueno.