Page 243 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2893
F
MYBPC1
mutations impair skeletal muscle
function in zebrafish models of arth ogryposis.
D. M.
Alvarado, K. Ha, J. G. Buchan, K. McCall, A. Vydyanath,
P. K. Luther, M. I. Goldsmith, M. B. Dobbs, C. A. Gurnett.
2894
W Scaling up: Integrating high throughput mouse
phenotyping data with additional genomic resources
for gene discovery.
C. L. Smith, H. Dene, R. Balderelli,
S. Gianatto, K. Forthover, J. Kadin, J. Richardson, J. T.
Eppig, Mouse Genome Informatics Staff.
2895
T Translational modeling of calpain-5
vitreoretinopathy mechanisms in mice.
K. J. Wert, J. M.
Skeie, S. H. Tsang, V. B. Mahajan.
2896
F A primary cell culture model to study
an inherited macular degeneration, DHDR/ML.
R. Fernandez-Godino, D. Garland, E. Pierce.
2897
W Inactivation of the
miR-183/96/182
cluster
gene results in syndromic retinal degeneration.
S. Xu,
S. Lumayag, C. E. Haldin, N. J. Corbett, K. J. Wahlin,
C. Cowan, S. Turturro, P. E. Larsen, P. D. Witmer, D. Valle,
D. J. Zack, D. A. Nicholson.
2898
T The
Dhtkd1
Tyr486* knock-in mouse model
recapitulates some phenotypes of Charcot-Marie-
Tooth disease type 2Q.
M. Gu, W. Guo, C. Luan, Z. Yu,
Y. Chen, S. Dang, Y. Kuang, Z. Wang.
2899
F Comprehensive characterization of a zebrafis
model for pseudoxanthoma elasticum reveals a role for
the abcc6 transporter in cardiovascular development.
M.
J. Hosen, O. Vanakker, A. Willaert, P. Coucke, A. De Paepe.
2900
W Impaired viability of muscle precursor cells
in muscular dystrophy with glycosylation defects
and amelioration of its severe phenotype by limited
gene expression.
K. Kobayashi, M. Kanagawa, C. C. Yu,
C. Ito, S. I. Fukada, T. Chiyo, T. Okada, S. Takeda, T. Toda.
2901
T Mutations in Sonic hedgehog signaling pathway
predispose to fatty liver.
A. F. Martinez, R. J. Lipinski, M.
Guillen-Sacoto, S. K. Hong, J. L. Everson, K. K. Sulik, N.
S. Trivedi, A. G. Elkahloun, B. D. Solomon, M. Muenke.
2902
F Imaging disease states using mouse models.
S.
Rockwood, M. Osborne, M. Lessard, M. Sasner.
2903
W The cDNA expression pattern in the brain of
Long-Evans Cinnamon rat, the animal model of Wilson
disease.
G. Kim, B. Lee, J. Kim, J. Kim, S. Heo, M. Kang,
J. Choi, H. Yoo.
2904
T Dube3a expression levels affect axonal
propagation and resting potential in fly models of
Angelman syndrome and duplication 15q autism.
L.
Reiter, C. Valdez, R. Scroggs.
2905
F Dysregulation of inflammatory pathways in a
familial hemiplegic migraine 1 mouse model after the
induction of cortical spreading depression.
E. Eising,
B. de Vries, R. Shyti, L. S. Vijfhuizen, L. A. M. Broos, N. A.
Datson, E. A. Tolner, P. A. C. ‘t Hoen, M. D. Ferrari, A. M. J.
M. van den Maagdenberg.
2882
T Transcriptional profiling analyses of RNA
in uncultured amniotic fluid using GeneChip®
PrimeView™ Human Gene Expression Array.
D. Cha,
S. H. Sung, S. R. Sung, M. Chin, J. Park, S. Kang, K.
Kang, S. Lyu.
2883
W Recurrent enlarged nuchal translucency:
Prenatal presentation of a familial 15q26.2qter
deletion syndrome.
R. Reiss, D. Ahern, M. Sandstrom,
L. Wilkins-Haug.
2884
T Gene expression differences between
preeclamptic and healthy placentas — An RNA
sequencing study.
T. Kaartokallio, A. Cervera, S.
Hautaniemi, J. Kere, H. Laivuori.
Molecular Basis of Mendelian
Disorders
2885
W Towards a mouse model of thrombocytopenia
with absent radius syndrome.
V. L. Horner, A. Dodd, A.
Long, C. L. Martin, T. Caspary.
2886
T A single mutant
HTT
allele is sufficient t
elicit early alterations to the brain in a knock-
in mouse model of Huntington’s disease.
M.
Kovalenko, A. J. Milnerwood, S. Tappan, J. St.Claire,
J. R. Guide, R. C. Switzer III, L. A. Raymond, J.-M.
Lee, V. C. Wheeler.
2887
F From chromosomal translocation to functional
analysis, identification of
ATG4C
in cleft palate
malformation.
L. J. Rochard, T. Hyos, M. Talkowski,
J. Gusella, C. Morton, E. C. Liao.
2888
W
Trim37
-
deficient mice ecapitulate several
features of the multi-organ disorder Mulibrey nanism.
K. M. Kettunen, R. Karikoski, R. H. Hämäläinen, T.-T.
Toivonen, H. Jalanko, A.-E. Lehesjoki.
2889
T An in vivo mouse model to study the
phosphorylation of FMRP.
M. Santoro, S. T. Warren.
2890
F A systematic genome-wide knockout generation
and analysis of zebrafish p otein-coding gene
function.
C. M. Dooley, E. M. Busch-Nentwich, R. N.
W. Kettleborough, C. Scahill, I. Sealy, R. J. White, J. C.
Collins, N. Wali, C. Herd, R. Gibbons, S. Carruthers, A.
Hall, R. C. Clark, Z. Pusztai, M. Niemi, F. van Eeden,
J. C. Barrett, D. L. Stemple.
2891
W Accessing mouse model data for human
disease research.
J. T. Eppig, S. M. Bello, H. Dene,
A. Anagnostospoulos, H. Onda, R. Babiuk, M. N.
Knowlton, M. Tomczuk, C. L. Smith.
2892
T Reducing variability in variation data using
a common genotype-phenotype model.
N. L.
Washington, M. Brush, A. Bandrowski, C. Borromeo,
K. Eilbeck, J. Espino, J. Grethe, A. Gupta, H. Hochheiser,
S. Hoffmann, S. E. Lewis, L. Lui, M. Martone,
C. J. Mungall, P. Robinson, D. Smedley, C. Torniai,
N. Vasilevsky, M. A. Haendel.