Page 187 - ASHG 2012 Annual Meeting Program Guide

176
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
with gene expression across human tissues.
C.
Giambartolomei, H.-J. Westra, M. Kivimaki, M. Kumari, E.
Schadt, L. Franke, A. Hingorani, V. Plagnol.
1622
T Silencing of Atp2b1 increases blood pressure
through vasoconstriction.
B. Oh, Y.-B. Shin, S.-M. Ji,
S.-Y. Park, H.-J. Lee, K.-W. Hong, J.-E. Lim, M. Lim, Y.-H.
Lee.
1623
T Metabolic imprints of genetically elevated body
mass index in young adults.
P. Würtz, A. J. Kangas, P.
Soininen, O. Raitakari, T. Lehtimäki, M. R. Järvelin, M. Ala-
Korpela, S. Ripatti.
1624
T Mendelian randomization studies do not support
a causal effect of plasma lipids on insulin sensitivity.
T.
Fall, W. Xie, K. Hao, J. Ärnlöv, F. Abbasi, E. E. Schadt, G.
Boran, T. Hansen, D. Greenawalt, J. J. Nolan, O. Pedersen,
H. Häring, E. Ferrannini, A.-C. Syvänen, T. Quertermous,
U. Smith, T. L. Assimes, M. Laakso, M. Walker, J. W.
Knowles, M. N. Weedon, E. Ingelsson, T. M. Frayling on
behalf of GENESIS Consortium.
1625
T Dissecting the genetic architecture of coronary
artery disease by genome engineering.
D. J. Segal, M.
S. Bhakta, K. ThevaDas, C. Sun, N. M. Grace, J. A. Nolta,
A. A. Knowlton, D. M. Rocke.
1626
T Application of Mendelian randomization on
ascorbic acid and hypertension in
.
11,000
participants
from 4 independent studies.
K. H. Wade, N. J. Timpson,
N. G. Forouhi, M.-J. Brion, R. M. Harbord, D. G. Cook, P.
Johnson, A. McConnachie, R. W. Morris, S. Rodriguez,
Z. Ye, S. Ebrahim, S. Padmanabhan, G. Watt, K. R.
Bruckdorfer, N. J. Wareham, P. H. Whincup, S. Chanock,
N. Sattar, D. A. Lawlor, G. Davey Smith.
1627
T Identification of a regulatory variant that binds
C/EBP
b
at the
GALNT2
human high-density lipoprotein
cholesterol locus.
T. S. Roman, M. P. Fogarty, S.
Vadlamudi, A. F. Marvelle, K. J. Gaulton, A. J. Gonzalez, Y.
Li, K. L. Mohlke.
1628
T Maternally transmitted coronary heart disease is
associated with the mitochondrial tRNAThr 15927G
.
A
mutation.
M. X. Guan.
1629
T Mitochondrial haplogroups and genomic
ancestry showed association with heart failure in
Brazilians.
C. Fridman, M. M. S. G. Cardena, A. K.
Ribeiro-dos-Santos, S. E. Santos, J. E. Krieger, A. C.
Pereira.
1630
T RNAi-based functional profiling of loci from
blood lipid genome-wide association studies.
H. Runz,
P. Blattmann, C. Schuberth, R. Pepperkok.
1631
T A fine mapping of the genetic variation
influencing the ratio of alternatively spliced
CD40
transcripts and conferring susceptibility to Kawasaki
disease.
Y. Onouchi, K. Ozaki, M. Terai, H. Hamada, H.
Suzuki, T. Suenaga, Y. Suzuki, K. Yasukawa, R. Ebata,
T. Saji, Y. Kemmotsu, K. Ouchi, F. Kishi, T. Yoshikawa, T.
Nagai, K. Hamamoto, Y. Sato, K. Sasago, A. Takahashi, M.
Kubo, T. Tsunoda, A. Hata, Y. Nakamura, T. Tanaka.
M. Boehnke, D. Crawford, T. Assimes, K. North, K. L.
Mohlke.
1609
T Identification of a major genetic modifier in
mouse models of TGF
b
vasculopathies.
J. Calderon, H.
Dietz.
1610
T Upregulation of Twist1 expression during acute
myocardial infarction.
J. B. Nevado.
1611
T Venous malformation-causing TIE2-mutations
lead to AKT-mediated downregulation of PDGFB.
M.
Uebelhoer, M. Nätynki, J. Kangas, J. Soblet, A. Mendola,
C. Godfraind, L. M. Boon, L. Eklund, N. Limaye, M.
Vikkula.
1612
T Islet1 is a direct transcriptional target of the
homeodomain transcription factor Shox2 in the
sinoatrial node of the developing heart.
G. A. Rappold,
I. M. Berger, A. Glaser, C. Bacon, L. Li, K. U. Schneider, N.
Gretz, H. Steinbeisser, W. Rottbauer, S. Just, S. Hoffmann.
1613
T Analysis of sub-category for 141 cases of
congenital heat disease that have been surgically
corrected during neonatal period.
Q.-Y. Cao, J.-Z. Zhu,
N. Zhong.
1614
T Analysis of cardiomyopathy using whole
genome sequencing.
E. M. McNally, J. R. Golbus,
L. L. Pesce, D. Wolfgeher, L. Dellefave-Castillo, M. J.
Puckelwartz.
1615
T The association between
NOS3
gene variations
and Brugada syndrome.
S. Mehrtashfar, A. Ebrahimi, M.
Moghadam, A. S. Khatir.
1616
T Targeted sequence capture and 454 sequencing
of 23 cardiomyopathy genes: Implementation into
diagnostics.
O. Mook, M. Haagmans, R. Lekanne dit
Deprez, F. Baas, M. Jakobs, N. Hofman, I. Christiaans, M.
Mannens.
1617
T Targeted next-generation sequencing of
thoracic aortic aneurysmal genes.
L. Van Laer, D.
Proost, G. Vandeweyer, J. Saenen, B. Paelinck, C. Vrints,
B. Loeys.
1618
T The use of next-generation sequencing in
clinical diagnostics of familial hypercholesterolaemia.
J. Vandrovcova, E. Thomas, S. Atanur, P. Norsworthy,
C. Neuwirth, Y. Tan, L. Game, A. Soutar, T. J. Aitman,
Generation Scotland.
1619
T Targeted next-generation sequencing as a
diagnostic test in patients with cardiomyopathies.
Y. J.
Vos, B. Sikkema-Raddatz, L. F. Johansson, E. N. de Boer,
L. G. Boven, K. Y. van Spaendonck-Zwarts, M. P. van den
Berg, J. P. van Tintelen, J. D. H. Jongbloed, R. J. Sinke.
1620
T Population sampling and in vitro modeling of a
25
bp deletion in
MYBPC3
associated with hypertrophic
cardiomyopathy.
A. B. Chowdry, M. A. Mandegar, G. M.
Benton, B. T. Naughton, B. R. Conklin.
1621
T Co-localization of lipid biomarker associations