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Friday, October 14
4:15
PM
–6:15
PM
Concurrent Platform Session C (51-60)
SESSION 53 – Molecular Basis III: Ciliopathies
Room 517D, Level 5, Convention Center
Moderators:
Tania Attie-Bitach, Hosp. Necker-Enfants
Malades, Paris, France; Nicholas Katsanis, Duke Univ.,
USA
179
/4:15
Hippocampal dysgenesis occurs
frequently in Bardet-Biedl patients independently
from the BBS genotype.
H. Dollfus, V. Bennouna-
Greene, S. Kremer, A. Danion, V. Marion, J.-L.
Dietemann, C. Stoetzel.
180
/4:30
Exome capture reveals mutations in
CEP164
causing a retinal-renal ciliopathy with a
possible role in DNA damage response signaling.
M. Chaki, R. Airik, A. K. Ghosh, E. A. Otto, W. Zhou, T.
W. Hurd, C. Antignac, S. Saunier, R. K. Koenekoop, R.
Chen, F. Hildebrandt.
181
/4:45
Exome sequencing and cis-regulatory
mapping identify mutations in
MAK
, a gene
encoding a regulator of ciliary length, as a cause of
retinitis pigmentosa.
A. den Hollander, A. M.
Siemiatkowska, D. Yücel, C. A. Myers, R. W. J. Collin,
M. N. Zonneveld, A. Beryozkin, E. Banin, C. B. Hoyng,
L. I. van den Born, R. Bose, W. Shen, D. Sharon, F. P.
M. Cremers, B. J. Klevering, R. Köksal Özgül, J. C.
Corbo, the European Retinal Disease Consortium.
182
/5:00
Exome sequencing and analysis of
induced pluripotent stem cells identify the cilia-
related gene
MAK
as a cause of retinitis
pigmentosa.
B. A. Tucker, T. E. Scheetz, R. F. Mullins,
A. P. DeLuca, J. M. Hoffmann, R. M. Johnston, S. G.
Jacobson, V. C. Sheffield, E. M. Stone.
183
/5:15
The mutational load of the intraflagellar
transport complex in ciliopathies.
E. E. Davis, D. S.
Parker, J. R. Willer, C. Golzio, I.-C. Tsai, J. Hartley, K.
Szymanska, A. C. Young, P. Cruz, P. Cherukuri, B.
Maskeri, N. F. Hansen, J. C. Mullikin, R. W. Blakesley,
G. G. Bouffard, D. M. Muzny, D. A. Wheeler, R. A.
Lewis, C. Bergmann, E. A. Otto, S. Saunier, P. J.
Scambler, P. L. Beales, E. R. Maher, T. Attié-Bitach, C.
A. Johnson, F. Hildebrandt, R. A. Gibbs, E. D. Green,
N. Katsanis.
184
/5:30
Genetic interactions revealed by mouse
models of
CEP290
ciliopathies.
A. Swaroop, R.
Rachel, A. Hackett, H. May-Simera, L. Dong, T.
Friedman, M. Kelley.
185
/5:45
The centrosomal protein ninl functions in
ciliogenesis and acts upstream of
mkks/bbs6
in
establishing planar cell polarity in zebrafish
development.
H. Kremer, E. van Wijk, N. A. Zaghloul,
R. Bachmann, F. F. J. Kersten, J. M. Gerdes, D. A.
Mans, T. A. Peters, H. H. Arts, E. Davis, C. C. Leitch,
H. May-Simera, P. L. Beales, D. Doherty, C. B. Moens,
N. Katsanis, R. Roepman.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
186
/6:00
Identification of the genetic basis of
heterotaxy-spectrum congenital heart defects.
J.
Cowan, M. Tariq, A. Cast, J. Lander, J. A. Towbin, B
Mohapatra, J. W. Belmont, C. Shaw, T. Smolarek, S.
Lalani, S. M. Ware.