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Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19)
SESSION 17 – Molecular Basis I: Skin and
Inflammatory Disorders
Room 710A, Level 7, Convention Center
Moderators:
Gail Herman, Nationwide Children’s
Hosp., USA; Cisca Wijmenga, Univ. Groningen,
Netherlands
59
/4:15
Rare de novo and common variations
implicate
CARD14
as psoriasis susceptibility locus
2.
C. T. Jordan, E. D. O. Roberson, L. Cao, K. C.
Pierson, C. F. Yang, C. Ryan, R. P. Nair, Y. Liu, K. C.
Duffin, Y. Chen, B. Feng, W. L. Hwu, P. E. Stuart, G.
Hayashi, J. Y. Wu, C. R. Pullinger, J. P. Kane, C. Wise,
L. Peddle, V. Chandran, P. Rahman, D. Gladman, G. G.
Krueger, J. T. Elder, W. Liao, Y. T. Chen, R. Goldbach-
Mansky, M. A. Lowes, A. Menter, A. M. Bowcock.
60
/4:30
Clinical transcriptome sequencing and
analysis of a patient with spiny follicular
hyperkeratoses of unknown etiology.
K. V. Fuentes
Fajardo, C. E. Mason, M. Huizing, M. Nehrebecky, M.
Turner, P. Zumbo, F. Gill, C. F. Boerkoel, A. R.
Cullinane, W. A. Gahl.
61
/4:45
Exome sequencing identifies rare recessive
IL1F5
variants in generalised pustular psoriasis.
A.
Onoufriadis, M. A. Simpson, A. E. Pink, C. H. Smith, J.
Knight, S. L. Spain, A. D. Burden, F. Capon, R. C.
Trembath, J. N. Barker.
62
/5:00
Genomic deletions in phospholipase C
γ
2
define a new syndrome of cold urticaria, antibody
deficiency and susceptibility to both autoimmunity
and infection.
M. J. Ombrello, E. F. Remmers, G. Sun,
A. Freeman, H. Komarow, I. Aksentijevich, S. Datta, P.
Torabi-Parizi, N. Subramanian, N. Romberg, T. D.
Bunney, R. W. Baxendale, H. S. Kim, J. Ho, D. C.
Douek, C. Gandhi, A. A. Wanderer, H. Lee, S. Nelson,
K. V. Shianna, E. T. Cirulli, D. B. Goldstein, E. Long, S.
Moir, E. Meffre, S. Holland, M. Katan, H. Hoffman, J.
D. Milner, D. L. Kastner.
63
/5:15
IL-36 receptor antagonist deficiency causes
auto-inflammation and generalized pustular
psoriasis.
A. Smahi, P. Guigue, S. Marrakchi, B. R.
Renshaw, A. Puel, X. Y. Pei, S. Fraitag, J. Zribi, E. Bal,
C. Cluzeau, M. Chrabieh, J. E. Towne, J. P.
Douangpanya, C. Pons, S. Mansour, V. Serre, H.
Makni, N. Mahfoudh, F. Fakhfaf, C. Bodemer, J.
Feingold, S. Hadj-Rabia, M. Favre, E. Genin, M.
Sahbatou, H. Turki, J. L. Casanova, J. E. Sims, H.
Bachelez, A. Munnich.
64
/5:30
Mutations underlying exfoliative ichthyosis
reveal a key role for the protease inhibitor cystatin
A in keratinocyte adhesion.
H. C. Hennies, D. C.
Blaydon, D. Nitoiu, K. M. Eckl, R. Cabral, P. Bland, A.
Zvulunov, D. P. Kelsell.
65
/5:45
Ablation of
TNF
or
TNFR1
rescues the skin
phenotypes of heterozygous female mutant mice.
Y. Gu, D. L. Nelson.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
66
/6:00
A mutation in
KEAP1
causes familial
multinodular goiter.
R. Teshiba, T. Tajiri, K. Sumito
K. Masumoto, T. Taguchi, K. Yamamoto.